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Febrile Seizure

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https://www.readbyqxmd.com/read/29149888/correction-to-analysis-of-plasma-multiplex-cytokines-and-increased-level-of-il-10-and-il-1ra-cytokines-in-febrile-seizures
#1
Kyungmin Kim, Byung Ok Kwak, Aram Kwon, Jongseok Ha, Soo-Jin Kim, Sun Whan Bae, Jae Sung Son, Soo-Nyung Kim, Ran Lee
After publication of the article [1], it has been brought to our attention that several of the authors' names were formatted incorrectly in the original version of the article. The corrections are listed below -"Byungok Kwak" should be "Byung Ok Kwak"Soojin Kim" should be "Soo-Jin Kim"Sunwhan Bae" should be "Sun Whan Bae"Jaesung Son" should be "Jae Sung Son"Soonyung Kim" should be "Soo-Nyung Kim"The original version of the article has now been revised.
November 17, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/29146655/qualitative-evaluation-of-a-deferred-consent-process-in-paediatric-emergency-research-a-predict-study
#2
Jeremy Furyk, Kristin McBain-Rigg, Kerrianne Watt, Theophilus I Emeto, Richard C Franklin, Donna Franklin, Andreas Schibler, Stuart R Dalziel, Franz E Babl, Catherine Wilson, Natalie Phillips, Robin Ray
BACKGROUND: A challenge of conducting research in critically ill children is that the therapeutic window for the intervention may be too short to seek informed consent prior to enrolment. In specific circumstances, most international ethical guidelines allow for children to be enrolled in research with informed consent obtained later, termed deferred consent (DC) or retrospective consent. There is a paucity of data on the attitudes of parents to this method of enrolment in paediatric emergency research...
November 15, 2017: BMJ Open
https://www.readbyqxmd.com/read/29141311/-study-on-mosaicism-of-scn1a-gene-mutation-in-parents-of-children-with-dravet-syndrome
#3
A J Liu, X X Yang, X J Xu, Q X Wu, X J Tian, X L Yang, X R Wu, L P Wei, Y H Zhang
Objective: To investigate the clinical phenotypes and the mutant allele proportion of parents with SCN1A gene mutation mosaicism of Dravet syndrome (DS) children, thus to provide guidance for family reproduction and prenatal diagnosis. Method: The clinical data and peripheral blood DNA samples of DS patients with a SCN1A gene mutation proved by Sanger sequencing were collected prospectively from February 2005 to November 2016 in Department of Pediatrics, Peking University First Hospital. The same mutation was searched in parents and other available relatives...
November 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29129156/a-case-of-kcnq2-associated-movement-disorder-triggered-by-fever
#4
Radhika Dhamija, Howard P Goodkin, Russell Bailey, Chelsea Chambers, J Nicholas Brenton
The differential diagnosis of fever-induced movement disorders in childhood is broad. Whole exome sequencing has yielded new insights into those cases with a suspected genetic basis. We report the case of an 8-year-old boy with a history of neonatal seizures who presented with near-continuous hyperkinetic movements of his limbs during a febrile illness. Initial diagnostic testing did not explain his abnormalities; however, given the suspicion for a channelopathy, whole exome sequencing was performed and it demonstrated a de novo pathogenic heterozygous variant in KCNQ2...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29127859/the-risk-of-subsequent-epilepsy-in-children-with-febrile-seizure-after-5-years-of-age
#5
Pinar Gencpinar, Hamdi Yavuz, Öznur Bozkurt, Şenay Haspolat, Özgür Duman
PURPOSE: Despite their age-dependent definition, febrile seizures (FS) may be observed in people of almost any age. The risk of developing unprovoked seizures after an FS is well defined. However, there are limited data about FS starting or persisting after 5 years of age. In the present study, we evaluated patients who developed FS after 5 years of age. METHOD: Between 2010 and 2014, we prospectively enrolled all patients with FS. We collected demographic and clinical features, radiologic images, electroencephalograms (EEGs), and results of psychomotor development tests and treatment data of the patients...
November 6, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29127615/fungal-and-parasitic-cns-infections
#6
Pratibha Singhi, Arushi Gahlot Saini
Central nervous system fungal infections can be broadly divided into those that infect a healthy host such as Cryptococcus, Coccidioides, Histoplasma, Blastomyces, Sporothrix spp., and those that cause opportunistic infections in an immunocompromised host such as Candida, Aspergillus, Zygomycetes, Trichosporon spp. The clinical manifestations of central nervous system fungal infections commonly seen in children in clinical practice include a chronic meningitis or meningoencephalitis syndrome, brain abscess, rhino-cerebral syndrome and rarely, a fungal ventriculitis...
November 11, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29127224/clinical-prediction-rule-for-neurological-sequelae-due-to-acute-encephalopathy-a-medical-community-based-validation-study-in-harima-japan
#7
Kaori Sasaki, Hiroaki Nagase, Azusa Maruyama, Kyoko Fujita, Masahiro Nishiyama, Tsukasa Tanaka, Sadayuki Nukina, Toru Takumi, Kanae Takenaka, Yoshinobu Oyazato, Atsushi Nishiyama, Tomoko Kawata, Keisuke Saeki, Yuichi Takami, Eriko Satake-Inoue, Kazumoto Iijima, Ichiro Morioka, Yoshiyuki Uetani
OBJECTIVES: This study aimed to verify the screening performance of our clinical prediction rule for neurological sequelae due to acute encephalopathy (NSAE-CPR), which previously identified the following three variables as predictive of poor outcomes: (1) refractory status epilepticus; (2) consciousness disturbance and/or hemiplegia at 6 hours from onset and (3) aspartate aminotransferase >90 IU/L within 6 hours of onset. DESIGN: Medical community-based multicentre retrospective cohort study...
November 9, 2017: BMJ Open
https://www.readbyqxmd.com/read/29120117/is-apolipoprotein-e-%C3%AE%C2%B52-associated-with-delayed-onset-of-non-lesional-temporal-lobe-epilepsy
#8
Davor Sporiš, Silvio Bašić, Jadranka Sertić, Darija Mahović Lakušić, Tomislav Babić
The aim of the study was to evaluate the possible association between Apo E polymorphisms and age at seizure onset in patients with non-lesional temporal lobe epilepsy. Eighty patients with non-lesional temporal lobe epilepsy with or without bilateral tonic-clonic propagation were analyzed. Age at seizure onset was defined as age at the first unequivocal seizure (excluding febrile convulsions). ApoE alleles were determined by a procedure where genome DNA was amplified by chain reaction along with polymerase, using the LightCycler kit (Roche) for ApoE mutations on codons 112 and 158...
March 2017: Acta Clinica Croatica
https://www.readbyqxmd.com/read/29119032/cytomegalovirus-associated-duodenal-ulcer-and-duodenitis-in-a-malnourished-pediatric-patient
#9
Rachel Bernard, Ghanim Aljomah, Emily Klepper, Elizabeth McDonough
Cytomegalovirus (CMV) duodenitis is a rare occurrence, especially in pediatric patients. A thirteen-month-old female presented to the Emergency Department for a febrile seizure. She was incidentally admitted for severe malnutrition with an initial workup remarkable for only a slight elevation in her ALT at 48. The patient was found to have an oral aversion requiring nasogastric tube feeds for adequate caloric intake. She continued to fail to gain weight and underwent an EGD that demonstrated a duodenal ulcer...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29118287/-mouse-model-of-febrile-seizures
#10
Yuka Kasahara, Yuji Ikegaya, Ryuta Koyama
No abstract text is available yet for this article.
2017: Nihon Yakurigaku Zasshi. Folia Pharmacologica Japonica
https://www.readbyqxmd.com/read/29103423/autoimmune-epilepsies
#11
Anusha K Yeshokumar, Carlos A Pardo
Autoimmune epilepsies describe clinical syndromes wherein the immune system is suspected to be involved in the pathogenesis of seizures or as a mechanism for neuronal injury following seizures. These diseases typically affect otherwise healthy children and are characterized by explosive onset of focal seizures, encephalopathy, cognitive deterioration, or other focal neurological deficits, or all of these. Traditional neurological diagnostics lack sensitivity and specificity in the diagnosis of autoimmune epilepsies, and results must be considered in the clinical context...
August 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29103422/novel-inflammatory-neuropathology-in-immature-brain-1-fetal-tuberous-sclerosis-2-febrile-seizures-3-%C3%AE-b-crystallin-and-4-role-of-astrocytes
#12
Harvey B Sarnat, Morris H Scantlebury
Though the term "inflammation" is traditionally defined as proliferation or infiltration of lymphatic cells of the lymphatic immune system and macrophages or as immunoreactive proteins including cytokines, interleukins and major histocompatibility complexes, recently recognized reactions to tissue injury also are inflammation, often occurring in the central nervous system in conditions where they previously were not anticipated and where they may play a role in both pathogenesis and repair. We highlight 4 such novel inflammatory conditions revealed by neuropathologic studies: (1) inflammatory markers and cells in the brain of human fetuses with tuberous sclerosis complex and perhaps other disorders of the mechanistic target of rapamycin genetic or metabolic pathway, (2) inflammatory markers in the brain related to febrile seizures of infancy and early childhood, (3) heat-shock protein upregulation in glial cells and neurons at sites of chronic epileptic foci, and (4) the emerging role of astrocytes in the presence of and participation in inflammation...
August 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/29101845/motor-cortex-excitability-in-seizure-free-stx1b-mutation-carriers-with-a-history-of-epilepsy-and-febrile-seizures
#13
Maria-Ioanna Stefanou, Debora Desideri, Justus Marquetand, Paolo Belardinelli, Christoph Zrenner, Holger Lerche, Ulf Ziemann
OBJECTIVE: Mutations in STX1B encoding the presynaptic protein syntaxin-1B are associated with febrile seizures with or without epilepsy. It is unclear to what extent these mutations are linked to abnormalities of cortical glutamatergic or GABAergic neurotransmission. We explored this question using single- and paired-pulse transcranial magnetic stimulation (TMS) excitability markers. METHODS: We studied nine currently asymptomatic adult STX1B mutation carriers with history of epilepsy and febrile seizures, who had been seizure-free for at least eight years without antiepileptic drug treatment, and ten healthy age-matched controls...
October 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29096665/genotype-phenotype-correlations-and-expansion-of-the-molecular-spectrum-of-ap4m1-related-hereditary-spastic-paraplegia
#14
Conceição Bettencourt, Vincenzo Salpietro, Stephanie Efthymiou, Viorica Chelban, Deborah Hughes, Alan M Pittman, Monica Federoff, Thomas Bourinaris, Martha Spilioti, Georgia Deretzi, Triantafyllia Kalantzakou, Henry Houlden, Andrew B Singleton, Georgia Xiromerisiou
BACKGROUND: Autosomal recessive hereditary spastic paraplegia (HSP) due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. METHODS: We investigated a Greek HSP family using whole exome sequencing (WES). RESULTS: A novel AP4M1A frameshift insertion, and a very rare missense variant were identified in all three affected siblings in the compound heterozygous state (p.V174fs and p.C319R); the unaffected parents were carriers of only one variant...
November 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29067083/the-long-term-prognosis-of-epilepsy-patients-with-medically-treated-over-a-period-of-eight-years-in-turkey
#15
Pelin Duman, Asuman Orhan Varoglu, Esra Kurum
OBJECTIVE: The aim of this study was to investigate the effect of demographic and clinical characteristics on temporal changes in seizure control and frequency in medically treated epilepsy patients to guide treatment modalities. METHODS: We retrospectively analyzed the association between clinical and demographic characteristics and seizure frequency in 1329 epilepsy patients who were followed up at an outpatient clinic for one to eight years, 2008-2015.. RESULTS: Younger age at first seizure (p = 0...
July 2017: Pakistan Journal of Medical Sciences Quarterly
https://www.readbyqxmd.com/read/29056424/implementing-near-real-time-vaccine-safety-surveillance-using-the-clinical-practice-research-datalink-cprd
#16
Andreia Leite, Sara L Thomas, Nick J Andrews
INTRODUCTION: Near real-time vaccine safety surveillance (NRTVSS) using electronic health records is increasingly used to rapidly detect vaccine safety signals. NRTVSS has not been fully implemented in the UK. We assessed the feasibility of implementing this surveillance using the UK Clinical Practice Research Datalink (CPRD). METHODS: We selected seasonal influenza vaccine/Guillain-Barré Syndrome (GBS) as an example of a rare outcome and measles-mumps-rubella (MMR) vaccine/febrile seizures as a positive control...
October 19, 2017: Vaccine
https://www.readbyqxmd.com/read/29056422/the-effect-of-antipyretics-on-immune-response-and-fever-following-receipt-of-inactivated-influenza-vaccine-in-young-children
#17
Emmanuel B Walter, Christoph P Hornik, Lisa Grohskopf, Charles E McGee, Christopher A Todd, Oidda I Museru, Lynn Harrington, Karen R Broder
BACKGROUND: Antipyretics reduce fever following childhood vaccinations; after inactivated influenza vaccine (IIV) they might ameliorate fever and thereby decrease febrile seizure risk, but also possibly blunt the immune response. We assessed the effect of antipyretics on immune responses and fever following IIV in children ages 6 through 47 months. METHODS: Over the course of three seasons, one hundred forty-two children, receiving either a single or the first of 2 recommended doses of IIV, were randomized to receive either oral acetaminophen suspension (n = 59) or placebo (n = 59) (double-blinded) or ibuprofen (n = 24) (open-label) immediately following IIV and every 4-8 h thereafter for 24 h...
October 19, 2017: Vaccine
https://www.readbyqxmd.com/read/29056244/grin2a-mutations-in-epilepsy-aphasia-spectrum-disorders
#18
Xiaoling Yang, Ping Qian, Xiaojing Xu, Xiaoyan Liu, Xiru Wu, Yuehua Zhang, Zhixian Yang
OBJECTIVE: Epilepsy-aphasia spectrum (EAS) are a group of epilepsy syndromes denoting an association between epilepsy, speech disorders and the EEG signature of centrotemporal spikes. Mutations in the GRIN2A gene, encoding the NMDA glutamate receptor α2 subunit were reported in focal epilepsy with speech disorder. We aimed to explore the role of GRIN2A mutations in patients with centrotemporal spikes related epileptic syndromes in a Chinese cohort. METHODS: Patients with Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike-and-wave during sleep (ECSWS), atypical benign partial epilepsy (ABPE), and benign epilepsy with centrotemporal spikes (BECTS) were recruited...
October 19, 2017: Brain & Development
https://www.readbyqxmd.com/read/29047147/case-control-pharmacogenetic-study-of-hcn1-hcn2-variants-and-genetic-generalized-epilepsies
#19
Shu-Zhi Wu, Hua Ye, Xiao-Guo Yang, Zhi-Li Lu, Qiang Qu, Jian Qu
Epilepsy is a common complex neurological disorder, and some forms are resistant to drug treatment. The HCN1/HCN2 genes encode hyperpolarization-activated cyclic nucleotide-gated channels, which play important roles in the electrophysiology of neurons. We investigated the association between HCN1/HCN2 variants and drug resistance or the risk of genetic generalized epilepsies (GGEs). We used matrix-assisted laser desorption/ionization time-of-flight mass spectrometry to assess nine variants of HCN1/HCN2 in 284 healthy participants and 483 GGEs (279 drug-responsive, 204 drug-resistant)...
October 19, 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/29042874/serum-neuron-specific-enolase-is-increased-in-pediatric-acute-encephalitis-syndrome
#20
Dian Pratamastuti, Prastiya Indra Gunawan, Darto Saharso
PURPOSE: This study aimed to investigate whether serum neuron-specific enolase (NSE) was expressed in acute encephalitis syndrome (AES) that causes neuronal damage in children. METHODS: This prospective observational study was conducted in the pediatric neurology ward of Soetomo Hospital. Cases of AES with ages ranging from 1 month to 12 years were included. Cases that were categorized as simple and complex febrile seizures constituted the non-AES group. Blood was collected for the measurement of NSE within 24 hours of hemodynamic stabilization...
September 2017: Korean Journal of Pediatrics
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