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https://www.readbyqxmd.com/read/28343008/electroclinical-features-of-epilepsy-in-patients-with-invdup-15
#1
REVIEW
Alberto Verrotti, Fiammetta Sertorio, Sara Matricardi, Pietro Ferrara, Pasquale Striano
PURPOSE: InvDup(15) syndrome is one of the most common chromosomal abnormalities associated with epilepsy. Here we review the seizure types described in InvDup(15) patients and the main electroclinical, therapeutic, and prognostic aspects of the syndrome. METHODS: A literature search of PubMed, MEDLINE, and EMBASE was performed to identify papers examining InvDup(15) syndrome and epilepsy. RESULTS: About 65% of the InvDup(15) patients described in the literature had multiple seizure types with a predominance (40...
March 9, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28336681/accuracy-and-reliability-of-stroke-diagnosis-in-the-pediatric-emergency-department
#2
Mark T Mackay, Adriana Yock-Corrales, Leonid Churilov, Paul Monagle, Geoffrey A Donnan, Franz E Babl
BACKGROUND AND PURPOSE: Access to acute stroke interventions in the emergency department (ED) relies on correct clinical diagnosis. Our aims were to determine the accuracy and reliability of pediatric ED physician diagnosis of childhood stroke and other conditions presenting with brain attack symptoms. METHODS: Prospective study of consecutive children aged 1 month to 18 years presenting to the ED from June 2009 to December 2010 with focal neurological deficits...
March 23, 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28334793/compound-heterozygous-mutations-in-the-gene-pigp-are-associated-with-early-infantile-epileptic-encephalopathy
#3
Devon L Johnstone, Thi Tuyet-Mai Nguyen, Yoshiko Murakami, Kristin D Kernohan, Martine Tétreault, Claire Goldsmith, Asif Doja, Justin D Wagner, Lijia Huang, Taila Hartley, Anik St-Denis, Françoise le Deist, Jacek Majewski, Dennis E Bulman, Taroh Kinoshita, David A Dyment, Kym M Boycott, Philippe M Campeau
There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutations in the GPI anchor biosynthesis and remodeling pathway cause a number of developmental disorders. This group of conditions has been termed inherited GPI deficiencies (IGDs), a subgroup of congenital disorders of glycosylation; they present with variable phenotypes, often including seizures, hypotonia and intellectual disability...
March 7, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28332798/discontinuation-of-antiepileptic-drugs-in-seizure-free-patients-when-and-how
#4
Morten I Lossius, Kristin Å Alfstad, Kari M Aaberg, Karl O Nakken
In seizure-free patients with epilepsy, the question of whether, and if so when, it is acceptable to withdraw treatment may be difficult to answer. A thorough risk-benefit assessment should be undertaken with the patient and next of kin, during which the consequences of a relapse must be weighed against the disadvantages of continued administration of the drug. As a main rule, adult patients should have been seizure-free for at least two years before discontinuation is considered. In children with epilepsy with a known good prognosis, discontinuation may be considered even earlier...
March 2017: Tidsskrift for Den Norske Lægeforening: Tidsskrift for Praktisk Medicin, Ny Række
https://www.readbyqxmd.com/read/28332711/long-term-white-matter-tract-reorganization-following-prolonged-febrile-seizures
#5
Suresh S Pujar, Kiran K Seunarine, Marina M Martinos, Brian G R Neville, Rod C Scott, Richard F M Chin, Chris A Clark
OBJECTIVE: Diffusion magnetic resonance imaging (MRI) studies have demonstrated acute white matter changes following prolonged febrile seizures (PFS), but their longer-term evolution is unknown. We investigated a population-based cohort to determine white matter diffusion properties 8 years after PFS. METHODS: We used diffusion tensor imaging (DTI) and applied Tract-Based Spatial Statistics for voxel-wise comparison of white matter microstructure between 26 children with PFS and 27 age-matched healthy controls...
March 23, 2017: Epilepsia
https://www.readbyqxmd.com/read/28328534/clinical-presentation-and-treatment-response-to-diazoxide-in-two-siblings-with-congenital-hyperinsulinism-as-a-result-of-a-novel-compound-heterozygous-abcc8-missense-mutation
#6
Sonya Galcheva, Violeta Iotova, Sian Ellard, Sarah E Flanagan, Irina Halvadzhiyan, Chayka Petrova, Khalid Hussain
BACKGROUND: Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the underlying genetic etiology. We present two siblings with hyperinsulinaemic hypoglycaemia (HH) and marked clinical heterogeneity caused by compound heterozygosity for the same two novel ABCC8 mutations. CASE PRESENTATION: The index patient is a 3-year-old boy with hypoglycaemic episodes presenting on the first day of life. HH was diagnosed and treatment with intravenous glucose and diazoxide was initiated...
March 22, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28328233/long-term-neurodevelopmental-outcome-of-neonates-with-hypernatremic-dehydration
#7
Hassan Boskabadi, Javad Akhondian, Maliheh Afarideh, Gholamali Maamouri, Sepideh Bagheri, Seyyed Mostafa Parizadeh, Majid Ghayour Mobarhan, Shabnam Mohammadi, Gordon A A Frens
BACKGROUND: Neonatal hypernatremic dehydration (NHD) is a dangerous condition that can lead to severe weight loss, renal impairment, and central nervous system complications. We aimed to evaluate the consequences of NHD in infants in their second year of life. MATERIALS AND METHODS: This was a prospective case-control study in Ghaem hospital, Mashhad, Iran. Sixty-five healthy breastfed neonates (serum sodium concentration <150 mmol/L) and 65 hypernatremic (serum sodium concentration ≥150 mmol/L) neonates were followed up from 2008 to 2011...
March 22, 2017: Breastfeeding Medicine: the Official Journal of the Academy of Breastfeeding Medicine
https://www.readbyqxmd.com/read/28328131/recessive-mutations-in-slc35a3-cause-early-onset-epileptic-encephalopathy-with-skeletal-defects
#8
Carla Marini, Katia Hardies, Tiziana Pisano, Patrick May, Sarah Weckhuysen, Elena Cellini, Arvid Suls, Davide Mei, Rudi Balling, Peter D Jonghe, Ingo Helbig, Domenico Garozzo, Renzo Guerrini
We describe the clinical and whole genome sequencing (WGS) study of a non-consanguineous Italian family in which two siblings, a boy and a girl, manifesting a severe epileptic encephalopathy (EE) with skeletal abnormalities, carried novel SLC35A3 compound heterozygous mutations. Both siblings exhibited infantile spasms, associated with focal, and tonic vibratory seizures from early infancy. EEG recordings showed a suppression-burst (SB) pattern and multifocal paroxysmal activity in both. In addition both had quadriplegia, acquired microcephaly, and severe intellectual disability...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28327685/recurrence-risk-of-febrile-seizures-in-children
#9
J Agrawal, P Poudel, G S Shah, S Yadav, S Chaudhary, S Kafle
BACKGROUND: Identifying children with febrile seizure who are at risk for recurrence is important so that special attention can be given to them. The objective of this study was to identify the risk factors for recurrence of febrile seizures in children. METHODS: This prospective hospital based study was conducted from July 2013 to August 2014 'among children of 6 months to 6 years of age at Bishweshwar Prasad Koirala Institute of Health Sciences (BPKIHS), Nepal...
September 2016: Journal of Nepal Health Research Council
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#10
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28322026/objective-3d-surface-evaluation-of-intracranial-electrophysiologic-correlates-of-cerebral-glucose-metabolic-abnormalities-in-children-with-focal-epilepsy
#11
Jeong-Won Jeong, Eishi Asano, Vinod Kumar Pilli, Yasuo Nakai, Harry T Chugani, Csaba Juhász
To determine the spatial relationship between 2-deoxy-2[(18) F]fluoro-D-glucose (FDG) metabolic and intracranial electrophysiological abnormalities in children undergoing two-stage epilepsy surgery, statistical parametric mapping (SPM) was used to correlate hypo- and hypermetabolic cortical regions with ictal and interictal electrocorticography (ECoG) changes mapped onto the brain surface. Preoperative FDG-PET scans of 37 children with intractable epilepsy (31 with non-localizing MRI) were compared with age-matched pseudo-normal pediatric control PET data...
March 21, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28316855/central-nervous-system-involvement-in-henoch-schonlein-purpura-in-children-and-adolescents
#12
Iliyana H Pacheva, Ivan S Ivanov, Krastina Stefanova, Elena Chepisheva, Lyubov Chochkova, Dafina Grozeva, Angelina Stoyanova, Stojan Milenkov, Penka Stefanova, Anna Petrova
Central nervous system (CNS) involvement in Henoch-Schonlein purpura (HSP) is rare but poses diagnostic difficulties. The aim of the study was to establish the frequency of CNS involvement in HSP, to analyze its clinical characteristics and do a literature review. Medical files of patients with HSP admitted at the Department of Pediatrics, Plovdiv, were studied retrospectively for a five-year period (2009-2013). Diagnosis was based on the American College of Rheumatology criteria. Out of 112 children with HSP 1 case (0...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28316319/epileptic-spasms-in-paediatric-post-traumatic-epilepsy-at-a-tertiary-referral-centre
#13
Jun T Park, Harry T Chugani
To recognize epileptic spasms (ES) as a seizure type after traumatic brain injury (TBI), accidental or non-accidental, in infants and children. In the process, we aim to gain some insight into the mechanisms of epileptogenesis in ES. A retrospective electronic chart review was performed at the Children's Hospital of Michigan from 2002 to 2012. Electronic charts of 321 patients were reviewed for evidence of post-traumatic epilepsy. Various clinical variables were collected including age at TBI, mechanism of trauma, severity of brain injury, electroencephalography/neuroimaging data, and seizure semiology...
March 17, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28315806/paroxysmal-nonepileptic-events-in-children-with-epilepsy
#14
Yuji Ito, Hiroyuki Kidokoro, Tamiko Negoro, Masaharu Tanaka, Yu Okai, Yoko Sakaguchi, Chikako Ogawa, Tomoya Takeuchi, Atsuko Ohno, Hiroyuki Yamamoto, Tomohiko Nakata, Satoshi Maesawa, Kazuyoshi Watanabe, Yoshiyuki Takahashi, Jun Natsume
OBJECTIVE: The aim of this study was to clarify the characteristics of paroxysmal nonepileptic events (PNEs) suspected as being epileptic seizures by families of children with epilepsy. METHODS: The video-EEG (vEEG) recordings of habitual paroxysmal events in children with epilepsy at Nagoya University Hospital between October 2006 and January 2016 were reviewed. Based on the doctor's suspicion before the vEEG, the PNEs were divided into two groups that included PNEs suspected as epileptic seizures and PNEs suspected as PNEs...
February 27, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28315722/risk-mitigation-for-children-exposed-to-drugs-during-gestation-a-critical-role-for-animal-preclinical-behavioral-testing
#15
REVIEW
Irving Zucker
Many drugs with unknown safety profiles are administered to pregnant women, placing their offspring at risk. I assessed whether behavioral outcomes for children exposed during gestation to antidepressants, anxiolytics, anti-seizure, analgesic, anti-nausea and sedative medications can be predicted by more extensive animal studies than are part of the FDA approval process. Human plus rodent data were available for only 8 of 33 CNS-active drugs examined. Similar behavioral and cognitive deficits, including autism and ADHD emerged in human offspring and in animal models of these disorders after exposure to fluoxetine, valproic acid, carbamazepine, phenytoin, phenobarbital and acetaminophen...
March 16, 2017: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/28306631/thermoregulate-autoregulate-and-ventilate-brain-directed-critical-care-for-pediatric-cardiac-arrest
#16
Jonathan E Kurz, Craig M Smith, Mark S Wainwright
PURPOSE OF REVIEW: Cardiac arrest in childhood is associated with a high risk for mortality and poor long-term functional outcome. This review discusses the current evidence for neuroprotective therapies and goals for postarrest care in the context of the pathophysiology of hypoxic-ischemic injury, modalities for neurologic prognostication in these children and potential future monitoring paradigms for maximizing cerebral perfusion in the postarrest period. RECENT FINDINGS: The recent publication of the in-hospital and out-of-hospital Therapeutic Hypothermia After Cardiac Arrest trials demonstrated a lack of statistically significant benefit for the use of postarrest therapeutic hypothermia...
March 16, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28306571/cns-syndromes-associated-with-antibodies-against-metabotropic-receptors
#17
Eric Lancaster
PURPOSE OF REVIEW: Autoantibodies to Central nervous system (CNS) metabotropic receptors are associated with a growing family of autoimmune brain diseases, including encephalitis, basal ganglia encephalitis, Ophelia syndrome, and cerebellitis. The purpose of this review is to summarize the state of knowledge regarding the target receptors, the neurological autoimmune disorders, and the pathogenic mechanisms. RECENT FINDINGS: Antibodies to the γ-aminobutyric acid B receptor are associate with limbic encephalitis and severe seizures, often with small cell lung cancers...
March 16, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28302757/alteration-of-monoamine-receptor-activity-and-glucose-metabolism-in-paediatric-patients-with-anticonvulsant-induced-cognitive-impairment
#18
Yuankai Zhu, Jianhua Feng, Jianfeng Ji, Haifeng Hou, Lin Chen, Shuang Wu, Qing Liu, Qiong Yao, Peizhen Du, Kai Zhang, Qing Chen, Zexin Chen, Hong Zhang, Mei Tian
A landmark study from the Institute of Medicine (IOM) reported that the assessment of cognitive difficulties in children with epilepsy is timely and imperative. Anticonvulsant-induced cognitive impairment could influence the quality of life more than seizure itself in patients. Although monoaminergic system is involved in the regulation of cognitive process, its role in anticonvulsant-induced cognitive impairment remains unclear. Methods: To explore in vivo monoamine receptor binding activity in patients with anticonvulsant-induced cognitive impairment, each patient had PET imaging with both monoamine receptor binding agent, (11)C-N-methylspiperone ((11)C-NMSP), and glucose metabolic agent, (18)F-fluorodeoxyglucose ((18)F-FDG)...
March 16, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28302192/-surgery-for-pediatric-intractable-epilepsy-due-to-posterior-quadrantic-cortical-dysplasia
#19
Qing-Zhu Liu, Li-Xin Cai, Xiao-Yan Liu, Yu-Wu Jiang, Shuang Wang, Tao-Yun Ji, Wen Wang, Wei-Ke Cheng, Ruo-Fan Wang
OBJECTIVE: To investigate the clinical features and surgical strategy for pediatric intractable epilepsy due to posterior quadrantic cortical dysplasia and to assess the surgical outcomes. METHODS: The clinical features and preoperative evaluation results of 14 children with intractable epilepsy due to posterior quadrantic cortical dysplasia were retrospectively analyzed. The localization values of video-electroencephalography and intraoperative monitoring and the indications, advantages and disadvantages of temporoparietooccipital disconnection were evaluated...
March 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28300820/children-born-at-32-to-35-weeks-with-birth-asphyxia-and-later-cerebral-palsy-are-different-from-those-born-after-35-weeks
#20
J Garfinkle, P Wintermark, M I Shevell, M Oskoui
OBJECTIVE: The objectives of this study were to (1) establish the proportion of cerebral palsy (CP) that occurs with a history suggestive of birth asphyxia in children born at 32 to 35 weeks and (2) evaluate their characteristics in comparison with children with CP born at ⩾36 weeks with such a history. STUDY DESIGN: Using the Canadian CP Registry, children born at 32 to 35 weeks of gestation with CP with a history suggestive of birth asphyxia were compared with corresponding ⩾36 weeks of gestation children...
March 16, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
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