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Pediatric encephalopathy

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https://www.readbyqxmd.com/read/28619060/incidence-disease-onset-and-short-term-outcome-in-urea-cycle-disorders-cross-border-surveillance-in-germany-austria-and-switzerland
#1
Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F Hoffmann, Beate Heinrich, Florian Gleich, Sven F Garbade
BACKGROUND: Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death. The study aims to provide epidemiologic data and to describe the disease manifestation and short-term outcome. METHOD: Cross-border surveillance of newly diagnosed patients with UCDs - below 16 years of age - was performed from July 2012 to June 2015 in Germany and Austria and from January 2012 to December 2015 in Switzerland...
June 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28605011/use-of-the-ketogenic-diet-to-manage-refractory-epilepsy-in-cdkl5-disorder-experience-of-100-patients
#2
Zhan Lim, Kingsley Wong, Heather E Olson, Ann M Bergin, Jenny Downs, Helen Leonard
OBJECTIVE: Pathogenic variants involving the CDKL5 gene result in a severe epileptic encephalopathy, often later presenting with features similar to Rett syndrome. Cardinal features of epilepsy in the CDKL5 disorder include early onset at a median age of 6 weeks and poor response to antiepileptic drugs. The ketogenic diet (KD) was first introduced in the 1920s as a treatment option for refractory epilepsy in children. This study investigated use of the KD in the CDKL5 disorder and its influences on seizures...
June 12, 2017: Epilepsia
https://www.readbyqxmd.com/read/28596990/magnetic-resonance-imaging-of-cerebral-malaria-patients-reveals-distinct-pathogenetic-processes-in-different-parts-of-the-brain
#3
Sanjib Mohanty, Laura A Benjamin, Megharay Majhi, Premanand Panda, Sam Kampondeni, Praveen K Sahu, Akshaya Mohanty, Kishore C Mahanta, Rajyabardhan Pattnaik, Rashmi R Mohanty, Sonia Joshi, Anita Mohanty, Ian W Turnbull, Arjen M Dondorp, Terrie E Taylor, Samuel C Wassmer
The mechanisms underlying the rapidly reversible brain swelling described in patients with cerebral malaria (CM) are unknown. Using a 1.5-Tesla (T) magnetic resonance imaging (MRI) scanner, we undertook an observational study in Rourkela, India, of 11 Indian patients hospitalized with CM and increased brain volume. Among the 11 cases, there were 5 adults and 6 children. All patients had reduced consciousness and various degrees of cortical swelling at baseline. The latter was predominately posterior in distribution...
May 2017: MSphere
https://www.readbyqxmd.com/read/28565819/genetic-basis-of-pediatric-epilepsy-syndromes
#4
Dongli Zhang, Xiaoming Liu, Xingqiang Deng
Childhood epilepsy affects ~0.5-1% in the general population worldwide. Early-onset epileptic encephalopathies are considered to be severe neurological disorders, which lead to impaired motor, cognitive, and sensory development due to recurrence of seizures. Many of the observed epilepsy phenotypes are associated with specific chromosomal imbalances and thus display gene dosage effects, and also specific mutations of a variety of genes ranging from ion channels to transcription factors. High throughput sequencing technologies and whole exome sequencing have led to the recognition of several new candidate genes with a possible role in the pathogenesis of epileptic encephalopathies...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28561815/effects-of-therapeutic-hypothermia-on-white-matter-injury-from-murine-neonatal-hypoxia-ischemia
#5
Elliot Koo, R Ann Sheldon, Byong Sop Lee, Zinaida S Vexler, Donna M Ferriero
BackgroundTherapeutic hypothermia (TH) is the standard of care for neonates with hypoxic-ischemic encephalopathy, but it is not fully protective in the clinical setting. Hypoxia-ischemia (HI) may cause white matter injury (WMI), leading to neurological and cognitive dysfunction.MethodsP9 mice were subjected to HI as previously described. Pups underwent 3.5 h of systemic hypothermia or normothermia. Cresyl violet and Perl's iron staining for histopathological scoring of brain sections was completed blindly on all brains...
May 31, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28558955/seizures-in-preterm-neonates-a-multicenter-observational-cohort-study
#6
Hannah C Glass, Renée A Shellhaas, Tammy N Tsuchida, Taeun Chang, Courtney J Wusthoff, Catherine J Chu, M Roberta Cilio, Sonia L Bonifacio, Shavonne L Massey, Nicholas S Abend, Janet S Soul
BACKGROUND: The purpose of this study was to characterize seizures among preterm neonates enrolled in the Neonatal Seizure Registry, a prospective cohort of consecutive neonates with seizures at seven pediatric centers that follow the American Clinical Neurophysiology Society's neonatal electroencephalography monitoring guideline. STUDY DESIGN: Of 611 enrolled neonates with seizures, 92 (15%) were born preterm. Seizure characteristics were evaluated by gestational age at birth for extremely preterm (<28 weeks, N = 18), very preterm (28 to <32 weeks, N = 18), and moderate to late preterm (32 to <37 weeks, N = 56) and compared with term neonates...
July 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28555455/-vagus-nerve-stimulation-treatment-of-158-pediatric-patients-with-a-long-term-follow-up
#7
S Flesler, G Reyes, S Fortini, B Ramos, R Cersosimo, M Bartuluchi, R Caraballo
AIM: To describe a series of patients with drug resistant epilepsy treated with vagus nerve stimulation in a national pediatric hospital, evaluating efficacy, safety and tolerability. PATIENTS AND METHODS: A retrospective analysis of 158 pediatric patients with epilepsy resistant to pharmacological and non pharmacological treatment including surgery that were treated with vagus nerve stimulation between 2001-2015. Patients with progressive encephalopathies, and congenital heart disease were excluded...
June 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28533163/grin2b-gain-of-function-mutations-are-sensitive-to-radiprodil-a-negative-allosteric-modulator-of-glun2b-containing-nmda-receptors
#8
Brice Mullier, Christian Wolff, Zara Amanda Sands, Philippe Ghisdal, Pierandrea Muglia, Rafal Marian Kaminski, Véronique Marie André
De novo gain of function mutations in GRIN2B encoding the GluN2B subunit of the N-methyl-d-aspartate (NMDA) receptor have been linked with epileptic encephalopathies, including infantile spasms. We investigated the effects of radiprodil, a selective GluN2B negative allosteric modulator and other non-selective NMDA receptor inhibitors on glutamate currents mediated by NMDA receptors containing mutated GluN2B subunits. The experiments were performed in Xenopus oocytes co-injected with the following human mRNAs: GRIN1/GRIN2B, GRIN1/GRIN2B-R540H, GRIN1/GRIN2B-N615I and GRIN1/GRIN2B-V618G...
May 19, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28503704/use-of-eeg-in-critically-ill-children-and-neonates-in-the-united-states-of-america
#9
Marina Gaínza-Lein, Iván Sánchez Fernández, Tobias Loddenkemper
The objective of the study was to estimate the proportion of patients who receive an electroencephalogram (EEG) among five common indications for EEG monitoring in the intensive care unit: traumatic brain injury (TBI), extracorporeal membrane oxygenation (ECMO), cardiac arrest, cardiac surgery and hypoxic-ischemic encephalopathy (HIE). We performed a retrospective cross-sectional descriptive study utilizing the Kids' Inpatient Database (KID) for the years 2010-2012. The KID is the largest pediatric inpatient database in the USA and it is based on discharge reports created by hospitals for billing purposes...
June 2017: Journal of Neurology
https://www.readbyqxmd.com/read/28483998/hypoxia-treatment-reverses-neurodegenerative-disease-in-a-mouse-model-of-leigh-syndrome
#10
Michele Ferrari, Isha H Jain, Olga Goldberger, Emanuele Rezoagli, Robrecht Thoonen, Kai-Hung Chen, David E Sosnovik, Marielle Scherrer-Crosbie, Vamsi K Mootha, Warren M Zapol
The most common pediatric mitochondrial disease is Leigh syndrome, an episodic, subacute neurodegeneration that can lead to death within the first few years of life, for which there are no proven general therapies. Mice lacking the complex I subunit, Ndufs4, develop a fatal progressive encephalopathy resembling Leigh syndrome and die at ≈60 d of age. We previously reported that continuously breathing normobaric 11% O2 from an early age prevents neurological disease and dramatically improves survival in these mice...
May 23, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28481070/-negative-pressure-system-in-the-treatment-of-enterocutaneous-fistulas-in-the-pediatric-population
#11
V Núñez Cerezo, M I Romo Muñoz, M V Amesty Morello, A Vilanova Sánchez, M Dore Reyes, M Gómez Cervantes, A M Andrés Moreno, E Martínez-Ojinaga Nodal, L Martínez Martínez, M López Santamaría
AIM OF THE STUDY: The management of children with enterocutaneous fistulas (EF) along with large abdominal wall defects secondary to multiple surgical interventions can be difficult and sometimes lead to intestinal failure (IF). The aim of this study is to present the results of negative pressure systems and their properties (edema reduction angiogenesis promotion and granulation tissue formation) in children with enterocutaneous fistulas (EF) and their prognosis. MATERIALS AND METHODS: A retrospective analysis of children with refractory, high output EF treated with NPS between 2008-2014...
October 10, 2016: Cirugía Pediátrica: Organo Oficial de la Sociedad Española de Cirugía Pediátrica
https://www.readbyqxmd.com/read/28474592/exploration-of-association-between-litchi-consumption-and-seasonal-acute-encephalopathy-syndrome-pediatric-infectious-disease-specialist-s-viewpoint
#12
https://www.readbyqxmd.com/read/28434268/ubiquitin-c-terminal-hydrolase-l1-uch-l1-as-a-therapeutic-and-diagnostic-target-in-neurodegeneration-neurotrauma-and-neuro-injuries
#13
REVIEW
Kevin K Wang, Zhihui Yang, George Sarkis, Isabel Torres, Vijaya Raghavan
Since its discovery as a major CNS-abundant protein 25 years ago, Ubiquitin C-terminal hydrolase-L1 (UCH-L1) has emerged as an important enzyme in regulating brain protein metabolism, by coupling to the proteasome pathway of protein degradation. Areas covered: UCH-L1 is implicated in both familial and sporadic Parkinson disease and other chronic neurodegenerative diseases. Also, UCH-L1 has been recently emerging as a biofluid-based biomarker for various forms of acute neurotrauma and CNS injury. Expert opinion: The loss of UCH-L1 activity coupled with the gain of proteinopathy function are linked to neurodegeneration such as Parkinsonism and Alzheimer's disease...
June 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28430674/continuous-eeg-in-pediatric-critical-care-yield-and-efficiency-of-seizure-detection
#14
Arnold J Sansevere, Elizabeth D Duncan, Mark H Libenson, Tobias Loddenkemper, Phillip L Pearl, Robert C Tasker
PURPOSE: Our goal was to define the duration of continuous EEG (cEEG) monitoring needed to adequately capture electrographic seizures and EEG status epilepticus in the pediatric intensive care unit using clinical and background EEG features. METHODS: Retrospective study of patients aged 1 month to 21 years admitted to a tertiary pediatric intensive care unit and undergoing cEEG (>3 hours). Clinical data collected included admission diagnosis, EEG background features, and time variables including time to first seizure after initiation of cEEG...
April 20, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28426698/extensive-alterations-of-blood-metabolites-in-pediatric-cerebral-malaria
#15
Sanchit Gupta, Karl Seydel, Miguel A Miranda-Roman, Catherine M Feintuch, Alex Saidi, Ryung S Kim, Gretchen L Birbeck, Terrie Taylor, Johanna P Daily
Cerebral malaria (CM) presents as an encephalopathy and is due to infection with Plasmodium falciparum. Patients are comatose, often with fever, recurrent seizures and this condition is associated with a high mortality rate. The etiology of the coma and seizures are poorly understood. Circulating small molecules and lipids have bioactive functions and alterations in their concentrations have been implicated in seizure disorders and other forms of encephalopathy. We carried out a comprehensive analysis of blood metabolites during CM to explore a biochemical basis of this encephalopathy...
2017: PloS One
https://www.readbyqxmd.com/read/28420900/intracranial-pressure-monitoring-for-pediatric-acute-encephalopathy
#16
Nobuyuki Nosaka, Kohei Tsukahara, Emily Knaup, Toshihiko Yabuuchi, Tomonobu Kikkawa, Yosuke Fujii, Masato Yashiro, Takao Yasuhara, Ayumi Okada, Toyomu Ugawa, Atsunori Nakao, Hirokazu Tsukahara, Isao Date
Newly published clinical practice guidelines recommend intracranial pressure (ICP) monitoring in critical care for the management of pediatric acute encephalopathy (pAE), but the utility of ICP monitoring for pAE has been poorly studied. We recently performed direct ICP monitoring for two patients. We observed that although the direct ICP monitoring had clinical benefits with less body weight gain and no vasopressor use in both cases, this monitoring technique is still invasive. Future studies should determine the utility of non-invasive ICP monitoring systems in pAE to further improve the quality of intensive-care management...
April 2017: Acta Medica Okayama
https://www.readbyqxmd.com/read/28413125/transient-dysautonomia-in-an-acute-phase-of-encephalopathy-with-biphasic-seizures-and-late-reduced-diffusion
#17
Yuko Ichimiya, Noriyuki Kaku, Yasunari Sakai, Fumiya Yamashita, Wakato Matsuoka, Mamoru Muraoka, Satoshi Akamine, Soichi Mizuguchi, Michiko Torio, Yoshitomo Motomura, Yuichiro Hirata, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Hidetoshi Takada, Yoshihiko Maehara, Shouichi Ohga
Paroxysmal sympathetic hyperactivity (PSH) is a dysautonomic condition that is associated with various types of acquired brain injuries. Traumatic brain lesions have been documented as the leading cause of PSH. However, detailed clinical features of pediatric PSH caused by intrinsic brain lesions remain to be elusive. We present a 3-year-old boy, who had been diagnosed as having cerebral palsy, developmental delay and epilepsy after perinatal hypoxia-induced brain injury. He developed status epilepticus with fever on the third day of respiratory infection...
April 13, 2017: Brain & Development
https://www.readbyqxmd.com/read/28411097/-acute-liver-failure-related-to-inherited-metabolic-diseases-in-young-children
#18
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto
INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. OBJECTIVE: To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children. MATERIAL AND METHODS: Retrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology...
April 11, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28376079/pattern-of-brain-injury-and-depressed-heart-rate-variability-in-newborns-with-hypoxic-ischemic-encephalopathy
#19
Marina Metzler, Rathinaswamy Govindan, Tareq Al-Shargabi, Gilbert Vezina, Nickie Andescavage, Yunfei Wang, Adre du Plessis, An N Massaro
BackgroundDecreased heart rate variability (HRV) is a measure of autonomic dysfunction and brain injury in newborns with hypoxic ischemic encephalopathy (HIE). This study aimed to characterize the relationship between HRV and brain injury pattern using magnetic resonance imaging (MRI) in newborns with HIE undergoing therapeutic hypothermia.MethodsHRV metrics were quantified in the time domain (αS, αL, and root mean square at short (RMSS) and long (RMSL) timescales) and frequency domain (relative low-(LF) and high-frequency (HF) power) over 24-27 h of life...
May 3, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28372869/a-pediatric-case-of-reversible-cerebral-vasoconstriction-syndrome-with-similar-radiographic%C3%A2-findings-to-posterior-reversible-encephalopathy-syndrome
#20
Tomoya Kamide, Taishi Tsutsui, Kouichi Misaki, Hiroki Sano, Masanao Mohri, Naoyuki Uchiyama, Mitsutoshi Nakada
BACKGROUND: Reversible cerebral vasoconstriction syndrome occurs predominantly in middle-aged women. Only nine pediatric cases of this syndrome have been reported. PATIENT DESCRIPTION: We present a ten-year-old boy with reversible cerebral vasoconstriction syndrome with radiographic findings similar to those of posterior reversible encephalopathy syndrome (PRES). He presented with a thunderclap headache without a neurological deficit. Brain magnetic resonance angiography (MRA) revealed multifocal narrowing of the cerebral arteries, whereas magnetic resonance imaging (MRI) with diffusion-weighted imaging and fluid-attenuated inversion recovery demonstrated hyperintense lesions in the occipital lobes and the left cerebellum...
February 20, 2017: Pediatric Neurology
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