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Neonatal Seizures

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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
#1
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
#2
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
#3
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...
August 12, 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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/28796992/abnormal-interhemispheric-synchrony-in-neonatal-hypoxic-ischemic-encephalopathy-a-retrospective-pilot-study
#8
Elise Leroy-Terquem, Anne Isabelle Vermersch, Pauline Dean, Ziad Assaf, Nathalie Boddaert, Alexandre Lapillonne, Jean-François Magny
BACKGROUND: Abnormal interhemispheric synchrony has been described in many clinical compromises in brain function, but its prognostic value in neonatal hypoxic-ischemic encephalopathy (HIE) is unknown. OBJECTIVES: The study aimed at describing the frequency of abnormal interhemispheric synchrony in infants with HIE and to explore its prognostic value. The main outcome was survival without major disabilities. METHODS: We performed a single-center retrospective cohort study and enrolled 40 neonates with HIE who underwent hypothermia...
August 11, 2017: Neonatology
https://www.readbyqxmd.com/read/28794088/ventilator-respiratory-graphic-diagnosis-of-hiccupping-in-non-ketotic-hyperglycinaemia
#9
Eliana Panayiotou, Kelly Spike, Colin Morley, Gusztav Belteki
A neonate presented with early encephalopathy deteriorated and was intubated and ventilated. Ventilator data were monitored and recorded at 100 Hz for 24 hours.The infant had many sudden deep inspirations during this time which were initially thought to be seizures. These were characterised by short, rapid, large inspirations when the airway pressure was reduced well below the positive end expiratory pressure level. Analysis of the ventilator data showed that these were hiccupping episodes misinterpreted by the ventilator as spontaneous breaths and triggering ventilator inflations...
August 9, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28791347/dysregulation-of-zinc-lipid-metabolism%C3%A2-associated-genes-in-the-rat-hippocampus-and-cerebral-cortex-in-early-adulthood-following-recurrent-neonatal-seizures
#10
Zhen-Hong Li, Li-Li Li, Mei-Fang Jin, Xu-Qin Chen, Qi Sun, Hong Ni
Although it has been established that recurrent or prolonged clinical seizures during infancy may cause lifelong brain damage, the underlying molecular mechanism is still not well elucidated. The present study, to the best of our knowledge, is the first to investigate the expression of twenty zinc (Zn)/lipid metabolism‑associated genes in the hippocampus and cerebral cortex of rats following recurrent neonatal seizures. In the current study, 6‑day‑old Sprague‑Dawley rats were randomly divided into control (CONT) and recurrent neonatal seizure (RS) groups...
August 3, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28770451/pharmacotherapy-for-seizures-in-neonates-with-hypoxic-ischemic-encephalopathy
#11
REVIEW
Elissa Yozawitz, Arthur Stacey, Ronit M Pressler
Seizures are common in neonates with moderate and severe hypoxic ischemic encephalopathy (HIE) and are associated with worse outcomes, independent of HIE severity. In contrast to adults and older children, no new drugs have been licensed for treatment of neonatal seizures over the last 50 years, because of a lack of controlled clinical trials. Hence, many antiseizure medications licensed in older children and adults are used off-label for neonatal seizure, which is associated with potential risks of adverse effects during a period when the brain is particularly vulnerable...
August 2, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28768552/a-mild-form-of-adenylosuccinate-lyase-deficiency-in-absence-of-typical-brain-mri-features-diagnosed-by-whole-exome-sequencing
#12
Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli
BACKGROUND: Adenylosuccinate lyase (ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The most severe form is characterized by neonatal encephalopathy, absence of spontaneous movement, respiratory failure, intractable seizures, and early death within the first weeks of life...
August 2, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28756349/interrater-agreement-in-visual-scoring-of-neonatal-seizures-based-on-majority-voting-on-a-web-based-system-the-neoguard-eeg-database
#13
Anneleen Dereymaeker, Amir H Ansari, Katrien Jansen, Perumpillichira J Cherian, Jan Vervisch, Paul Govaert, Leen De Wispelaere, Charlotte Dielman, Vladimir Matic, Alexander Caicedo Dorado, Maarten De Vos, Sabine Van Huffel, Gunnar Naulaers
OBJECTIVE: To assess interrater agreement based on majority voting in visual scoring of neonatal seizures. METHODS: An online platform was designed based on a multicentre seizure EEG-database. Consensus decision based on 'majority voting' and interrater agreement was estimated using Fleiss' Kappa. The influences of different factors on agreement were determined. RESULTS: 1919 Events extracted from 280h EEG of 71 neonates were reviewed by 4 raters...
July 12, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28753091/neuroendoscopic-surgery-in-children-does-age-at-intervention-influence-safety-and-efficacy-a-single-center-experience
#14
Amy L Bowes, Josh King-Robson, William J Dawes, Greg James, Kristian Aquilina
OBJECTIVE The aim of this study was to review the safety of pediatric intraventricular endoscopy across separate age groups and to determine whether intraventricular endoscopy is associated with an increased risk of complications or reduced efficacy in infants younger than 1 year. METHODS In this retrospective cohort study, 286 pediatric patients younger than 17 years underwent intraventricular endoscopy at Great Ormond Street Hospital between December 2005 and December 2014. The primary diagnosis, procedure, and complications were recorded...
July 28, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28752061/lethal-neonatal-rigidity-and-multifocal-seizure-syndrome-with-a-new-mutation-in-brat1
#15
Yalcin Celik, Cetin Okuyaz, Ali Ertug Arslankoylu, Serdar Ceylaner
Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal (RMFSL) (OMIM# 614498) is a rare and recently characterized epileptic encephalopathy that is related to variants in the BRAT1 gene (Breast Cancer 1-associated ataxia telangiectasia mutated activation-1 protein). In this report, an RMFSL case, who died in the 10th month of the life, with rigidity, drug-resistant myoclonic seizures in the face and extremities, with, significant motor delays is presented. The exon sequence was determined and a new homozygous variant (C...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28747093/prochlorperazine-increases-kcc2-function-and-reduces-spasticity-after-spinal-cord-injury
#16
Sylvie Liabeuf, Laetitia Stuhl-Gourmand, Florian Gackière, Renzo Mancuso, Irene Sanchez-Brualla, Philippe Marino, Frédéric Brocard, Laurent Vinay
In mature neurons, low intracellular chloride level required for inhibition is maintained by the potassium-chloride co-transporter KCC2. Impairment of Cl- extrusion following KCC2 dysfunction has been involved in many CNS disorders such as seizures, neuropathic pain or spasticity after a spinal cord injury (SCI). This makes KCC2 an appealing drug target for restoring Cl-homeostasis and inhibition in pathological conditions. In the present study, we screen the Prestwick Chemical Library® and identify conventional antipsychotics phenothiazine derivatives as enhancers of KCC2 activity...
July 26, 2017: Journal of Neurotrauma
https://www.readbyqxmd.com/read/28742508/clinical-characterization-of-a-novel-calcium-sensing-receptor-genetic-alteration-in-a-greek-patient-with-autosomal-dominant-hypocalcemia-type-1
#17
Anna Papadopoulou, Evangelia Gole, Katerina Melachroinou, Theoni Trangas, Evaggelia Bountouvi, Anastasios Papadimitriou
OBJECTIVE: Autosomal dominant hypocalcemia (ADH) is a rare familial or sporadic syndrome associated with activating mutations in the calcium sensing receptor (CaSR) gene. The aim of this study was to assess the functional significance of a novel CaSR mutation and, moreover, to present the clinical characteristics and the bone mineral density (BMD) progression from early childhood to late puberty in a patient with ADH. DESIGN: Genetic analysis of the CaSR gene was performed in a patient who presented in the neonatal period with hypocalcemic seizures and biochemical features of ADH...
April 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28741228/craniocerebral-birth-injuries-in-term-newborn-infants-a-retrospective-series
#18
Pieter Nachtergaele, Frank Van Calenbergh, Lieven Lagae
OBJECTIVE: In an attempt to further define the spectrum of cranial birth injuries, we analyzed 21 consecutive cranial birth injuries in term neonates presenting to the neurosurgical department of our institution over the period 1994-2015. METHODS: We performed a retrospective chart review from the medical records of the University Hospitals of the KU Leuven, from 1994 to 2015. We included 21 infants of 36-week gestational age or older with a diagnosis of cranial birth injury...
July 24, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28733343/profile-of-neonatal-epilepsies-characteristics-of-a-prospective-us-cohort
#19
Renée A Shellhaas, Courtney J Wusthoff, Tammy N Tsuchida, Hannah C Glass, Catherine J Chu, Shavonne L Massey, Janet S Soul, Natrujee Wiwattanadittakun, Nicholas S Abend, Maria Roberta Cilio
OBJECTIVE: Although individual neonatal epilepsy syndromes are rare, as a group they represent a sizable subgroup of neonatal seizure etiologies. We evaluated the profile of neonatal epilepsies in a prospective cohort of newborns with seizures. METHODS: Consecutive newborns with seizures were enrolled in the Neonatal Seizure Registry (an association of 7 US children's hospitals). Treatment and diagnostic testing were at the clinicians' discretion. Neonates with seizures related to epileptic encephalopathies (without structural brain abnormalities), brain malformations, or benign familial epilepsies were included in this analysis...
July 21, 2017: Neurology
https://www.readbyqxmd.com/read/28729328/comparative-safety-of-antiepileptic-drugs-for-neurological-development-in-children-exposed-during-pregnancy-and-breast-feeding-a-systematic-review-and-network-meta-analysis
#20
Areti Angeliki Veroniki, Patricia Rios, Elise Cogo, Sharon E Straus, Yaron Finkelstein, Ryan Kealey, Emily Reynen, Charlene Soobiah, Kednapa Thavorn, Brian Hutton, Brenda R Hemmelgarn, Fatemeh Yazdi, Jennifer D'Souza, Heather MacDonald, Andrea C Tricco
OBJECTIVES: Compare the safety of antiepileptic drugs (AEDs) on neurodevelopment of infants/children exposed in utero or during breast feeding. DESIGN AND SETTING: Systematic review and Bayesian random-effects network meta-analysis (NMA). MEDLINE, EMBASE and the Cochrane Central Register of Controlled Trials were searched until 27 April 2017. Screening, data abstraction and quality appraisal were completed in duplicate by independent reviewers. PARTICIPANTS: 29 cohort studies including 5100 infants/children...
July 20, 2017: BMJ Open
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