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https://www.readbyqxmd.com/read/29691835/rufinamide-add-on-therapy-for-refractory-epilepsy
#1
REVIEW
Mariangela Panebianco, Hemanshu Prabhakar, Anthony G Marson
BACKGROUND: Epilepsy is a central nervous system disorder (neurological disorder). Epileptic seizures are the result of excessive and abnormal cortical nerve cell electrical activity in the brain. Despite the development of more than 10 new antiepileptic drugs (AEDs) since the early 2000s, approximately a third of people with epilepsy remain resistant to pharmacotherapy, often requiring treatment with a combination of AEDs. In this review, we summarised the current evidence regarding rufinamide, a novel anticonvulsant medication, which, as a triazole derivative, is structurally unrelated to any other currently used anticonvulsant medication, when used as an add-on treatment for refractory epilepsy...
April 25, 2018: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29687739/vigabatrin-for-epileptic-spasms-and-tonic-seizures-in-tuberous-sclerosis-complex
#2
Emma A van der Poest Clement, Mustafa Sahin, Jurriaan M Peters
Vigabatrin is recommended as first-line treatment for infantile spasms in tuberous sclerosis complex (TSC), but other indications in children with tuberous sclerosis complex are less known. We retrospectively reviewed 201 children with tuberous sclerosis complex, and identified 21 children older than 1 year started on vigabatrin for any indication and with sufficient follow-up data. The indication for vigabatrin was epileptic spasms (n = 13), tonic seizures (n = 5), both (n = 2), and status epilepticus (n = 1)...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29687030/therapeutic-effect-of-steroids-in-osmotic-demyelination-of-infancy
#3
Lalit R Bansal
An 11-month-old male presented with acute gastroenteritis, seizures, and altered mental status. Laboratory workup revealed serum sodium of 177 mmol/L. Magnetic resonance imaging of the brain showed reduced diffusion in the supratentorial white matter, T2 hyperintensities in the left central pons and midbrain, subacute stroke in the right occipital lobe, and bilateral cerebellar hemorrhagic infarcts. The child was presumed to have hypernatremia-induced central pontine and extrapontine myelinolysis. He received 5 days of high-dose methylprednisolone for persistent encephalopathy and spastic quadriparesis with rapid recovery of his cognitive function and neurological examination...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29683201/different-as-night-and-day-patterns-of-isolated-seizures-clusters-and-status-epilepticus
#4
Daniel M Goldenholz, Kshitiz Rakesh, Kush Kapur, Marina Gaínza-Lein, Ryan Hodgeman, Robert Moss, William H Theodore, Tobias Loddenkemper
Using approximations based on presumed U.S. time zones, we characterized day and nighttime seizure patterns in a patient-reported database, Seizure Tracker. A total of 632 995 seizures (9698 patients) were classified into 4 categories: isolated seizure event (ISE), cluster without status epilepticus (CWOS), cluster including status epilepticus (CIS), and status epilepticus (SE). We used a multinomial mixed-effects logistic regression model to calculate odds ratios (ORs) to determine night/day ratios for the difference between seizure patterns: ISE versus SE, ISE versus CWOS, ISE versus CIS, and CWOS versus CIS...
April 23, 2018: Epilepsia
https://www.readbyqxmd.com/read/29682010/craniofacial-trauma-in-pediatric-patients-following-winnowing-blade-injury-review-of-literature
#5
REVIEW
Harsha Huliyappa, Balakrishna Ojha, Anil Chandra, Sunil Kumar Singh, Chhitij Srivastava
In developing countries, during the harvest season, winnower blade injuries occur very frequently in children and results in lifelong disability. Nine children were managed during 1 month, all resulting due to winnower blade induced craniofacial trauma. PubMed search for "fan blade injury" showed two case series and three case reports. In our study, 88% had compound depressed fracture; brain matter leak in 56%, cerebrospinal fluid (CSF) leak alone in 22%. 66.7% had injury involving the frontal bone...
April 2018: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29681108/functional-mrna-analysis-reveals-aberrant-splicing-caused-by-novel-intronic-mutation-in-wdr45-in-nbia-patient
#6
Josh Willoughby, Celia Duff-Farrier, Archana Desurkar, Manju Kurian, Ashok Raghavan, Meena Balasubramanian
WDR45 gene-associated neurodegeneration with brain iron accumulation (NBIA), referred to as beta-propeller protein-associated neurodegeneration (BPAN), is a rare disorder that presents with a very nonspecific clinical phenotype in children constituting global developmental delay. This case report illustrates the power of a combination of trio exome sequencing, in silico splicing analysis, and mRNA analysis to provide sufficient evidence for pathogenicity of a relatively intronic variant in WDR45, and in so doing, find a genetic diagnosis for a 6-year-old patient with developmental delay and seizures, a diagnosis which may otherwise have only been found once the characteristic MRI patterns of the disease became more obvious in young adulthood...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29680921/neurosurgical-treatment-of-gangliogliomas-in-children-and-adolescents-long-term-follow-up-of-a-single-institution-series-of-32-patients
#7
Tryggve Lundar, Bernt Johan Due-Tønnessen, Radek Fric, Arild Egge, Bård Krossnes, Paulina Due-Tønnessen, Einar Stensvold, Petter Brandal
OBJECT: The object of this study was to delineate long-term results of the surgical treatment of pediatric tumors classified as ganglioglioma or gangliocytoma. METHODS: A cohort of consecutive patients 19 years or younger who had undergone primary resection of CNS tumors during the years 1980-2016 at a single institution were reviewed in this retrospective study of surgical morbidity, mortality, and academic achievement and/or work participation. Gross motor function and activities of daily living were scored using the Barthel Index (BI)...
April 22, 2018: Acta Neurochirurgica
https://www.readbyqxmd.com/read/29679912/effects-of-ugt2b7-scn1a-and-cyp3a4-on-the-therapeutic-response-of-sodium-valproate-treatment-in-children-with-generalized-seizures
#8
Weixing Feng, Shenghui Mei, Leting Zhu, Yazhen Yu, Weili Yang, Baoqin Gao, Xiaojuan Wu, Zhigang Zhao, Fang Fang
PURPOSE: This study aims to evaluate the associations between genetic polymorphisms and the effect of sodium valproate (VPA) therapy in children with generalized seizures. METHODS: A total of 174 children with generalized seizures on VPA therapy were enrolled. Steady-state trough plasma concentrations of VPA were analyzed. Seventy-six single nucleotide polymorphisms involved in the absorption, metabolism, transport, and target receptor of VPA were identified, and their associations with the therapeutic effect (seizure reduction) were evaluated using logistic regression adjusted by various influence factors...
April 14, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29677576/early-mortality-in-scn8a-related-epilepsies
#9
Katrine M Johannesen, Elena Gardella, Ingrid Scheffer, Katherine Howell, Douglas M Smith, Ingo Helbig, Rikke S Møller, Guido Rubboli
SCN8A-related epilepsies are often severe developmental and epileptic encephalopathies. Seizures can be treatment resistant, and patients suffer from severe intellectual disability. Reports have suggested that SCN8A-related epilepsies have a high mortality with SUDEP as the major underlying cause. SUDEP is a catastrophic event, and the risk of occurrence should be correctly and carefully discussed with patients and families. We tested the hypothesis of SUDEP as the main cause of death in SCN8A-related epilepsies by reviewing all the currently reported patients with SCN8A...
April 13, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29676681/frameless-robot-assisted-stereoelectroencephalography-in-children-technical-aspects-and-comparison-with-talairach-frame-technique
#10
Taylor J Abel, René Varela Osorio, Ricardo Amorim-Leite, Francois Mathieu, Philippe Kahane, Lorella Minotti, Dominique Hoffmann, Stephan Chabardes
OBJECTIVE Robot-assisted stereoelectroencephalography (SEEG) is gaining popularity as a technique for localization of the epileptogenic zone (EZ) in children with pharmacoresistant epilepsy. Here, the authors describe their frameless robot-assisted SEEG technique and report preliminary outcomes and relative complications in children as compared to results with the Talairach frame-based SEEG technique. METHODS The authors retrospectively analyzed the results of 19 robot-assisted SEEG electrode implantations in 17 consecutive children (age < 17 years) with pharmacoresistant epilepsy, and compared these results to 19 preceding SEEG electrode implantations in 18 children who underwent the traditional Talairach frame-based SEEG electrode implantation...
April 20, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29676680/midline-central-fluid-percussion-model-of-traumatic-brain-injury-in-pediatric-and-adolescent-rats
#11
Rachel K Rowe, Jordan L Harrison, Timothy W Ellis, P David Adelson, Jonathan Lifshitz
OBJECTIVE Experimental traumatic brain injury (TBI) models hold significant validity to the human condition, with each model replicating a subset of clinical features and symptoms. TBI is the leading cause of mortality and morbidity in children and teenagers; thus, it is critical to develop preclinical models of these ages to test emerging treatments. Midline fluid percussion injury (FPI) might best represent mild and diffuse clinical brain injury because of the acute behavioral deficits, the late onset of behavioral morbidities, and the absence of gross histopathology...
April 20, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29675070/frequency-and-outcome-of-acute-neurologic-complications-after-congenital-heart-disease-surgery
#12
Sidra Kaleem Jafri, Lubaina Ehsan, Qalab Abbas, Fatima Ali, Prem Chand, Anwar Ul Haque
Objectives: To determine the frequency and immediate outcome of acute neurologic complications (ANCs) in children undergoing congenital heart surgery (CHS). Materials and Methods: In this retrospective study, all patients undergoing CHS at our hospital from January 2007 to June 2016 were included. Patients were followed up for the development of seizures, altered level of consciousness (ALOC), abnormal movements, and stroke. Results are presented as mean with standard deviation and frequency with percentages...
October 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29674168/spikes-might-precede-seizures-and-predict-epilepsy-in-children-with-sturge-weber-syndrome-a-pilot-study
#13
Claire Bar, Anna Kaminska, Rima Nabbout
PURPOSE: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by a facial port-wine stain, a glaucoma, and a leptomeningeal angioma. Epilepsy occurs in more than 75% of affected children, and seizures occurring in the first year of life are associated with a poor neurological prognosis. The aim of this study was to identify possible predictive markers of epilepsy on electroencephalogram (EEG) performed prior to seizure onset in children with SWS. METHODS: This study included children with a diagnosis of SWS who had an EEG performed prior to seizure onset...
March 28, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29674131/efficacy-of-cbd-enriched-medical-cannabis-for-treatment-of-refractory-epilepsy-in-children-and-adolescents-an-observational-longitudinal-study
#14
Moran Hausman-Kedem, Shay Menascu, Uri Kramer
The objective of this observational study was to evaluate the efficacy of medical cannabis for the treatment of refractory epilepsy. Fifty-seven patients (age 1-20 years) with epilepsy of various etiologies were treated with Cannabis oil extract (CBD/THC ratio of 20:1) for at least 3 months (Median follow up time-18 months). Forty-Six Patients were included in the efficacy analysis. Average CBD dose was11.4 mg/kg/d. Twenty-six patients (56%) had ≤50% reduction in mean monthly seizure frequency. There was no statistically significant difference in response rate among various epilepsy etiologies, and cannabis strain used...
April 16, 2018: Brain & Development
https://www.readbyqxmd.com/read/29672598/long-qt-molecular-autopsy-in-sudden-unexplained-death-in-the-young-1-40-years-old-lessons-learnt-from-an-eight-year-experience-in-new-zealand
#15
Luciana Marcondes, Jackie Crawford, Nikki Earle, Warren Smith, Ian Hayes, Paul Morrow, Tom Donoghue, Amanda Graham, Donald Love, Jonathan R Skinner
BACKGROUND: To review long QT syndrome molecular autopsy results in sudden unexplained death in young (SUDY) between 2006 and 2013 in New Zealand. METHODS: Audit of the LQTS molecular autopsy results, cardiac investigations and family screening data from gene-positive families. RESULTS: During the study period, 365 SUDY cases were referred for molecular autopsy. 128 cases (35%) underwent LQTS genetic testing. 31 likely pathogenic variants were identified in 27 cases (21%); SCN5A (14/31, 45%), KCNH2 (7/31, 22%), KCNQ1 (4/31, 13%), KCNE2 (3/31, 10%), KCNE1 (2/31, 7%), KCNJ2 (1/31, 3%)...
2018: PloS One
https://www.readbyqxmd.com/read/29672310/significance-of-fdg-pet-hypermetabolism-in-children-with-intractable-focal-epilepsy
#16
Solon Schur, Victoria Allen, Andrew White, David Mirsky, Nicholas Stence, Brent O'Neill, Michael Handler, Roy Dudley, Pramote Laoprasert
BACKGROUND: Interictal 18F-fluorodeoxyglucose-positron emission topography (FDG-PET) hypometabolism is routinely used in the presurgical workup of children with medically intractable epilepsy (MIE). FDG-PET hypermetabolism, however, is rarely seen, and the significance of this finding in the epilepsy workup is not well established. METHODS: We performed a retrospective study of patients who underwent FDG-PET during the presurgical workup of MIE over a 4-year period, between 1 January 2010 and 31 December 2013, at the Children's Hospital Colorado, CO, USA...
April 19, 2018: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29671836/children-s-experience-of-symptoms-narratives-through-words-and-images
#17
REVIEW
Barbara M Sourkes
Children who live with a complex chronic or life-threatening illness face extraordinary challenges. Whether they are receiving disease-oriented treatment (aimed at potential cure or prolongation of life) or palliative treatment-or both concurrently-our challenge is to enhance their comfort and minimize their distress. Symptom management is thus a critical component of pediatric palliative care. Symptoms may be either physical or psychological in nature (or a confluence of both) and their effective management has a direct impact on the child's quality of life...
April 19, 2018: Children
https://www.readbyqxmd.com/read/29668992/pediatric-temporal-lobe-epilepsy-surgery-in-bonn-and-review-of-the-literature
#18
D Ryan Ormond, Hans Clusmann, Robert Sassen, Christian Hoppe, Christoph Helmstaedter, Johannes Schramm, Alexander Grote
BACKGROUND: Epilepsy surgery is well established as safe and successful for children with temporal lobe epilepsy (TLE). Despite evidence from available data, there remains some reluctance to refer children with medically refractory epilepsy for preoperative evaluation and workup for possible surgery. OBJECTIVE: To present the largest case series of pediatric (TLE) patients thus far, in order to better understand the predictability of preoperative evaluation on seizure outcome, and to better understand longitudinal outcomes in a large pediatric cohort...
April 13, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29666902/effect-of-cyp2c19-ugt1a8-and-ugt2b7-on-valproic-acid-clearance-in-children-with-epilepsy-a-population-pharmacokinetic-model
#19
Shenghui Mei, Weixing Feng, Leting Zhu, Xingang Li, Yazhen Yu, Weili Yang, Baoqin Gao, Xiaojuan Wu, Fang Fang, Zhigang Zhao
PURPOSE: Valproic acid (VPA) is an important drug in seizure control with great inter-individual differences in metabolism and treatment effect. This study aims to identify the effects of genetic variants on VPA clearance in a population pharmacokinetic (popPK) model in children with epilepsy. METHODS: A total of 325 VPA plasma concentrations from 290 children with epilepsy were used to develop the popPK model by using the nonlinear mixed-effects modeling method...
April 17, 2018: European Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29664874/traumatic-brain-injury-and-infectious-encephalopathy-in-children-from-four-resource-limited-settings-in-africa
#20
Ericka L Fink, Amelie von Saint Andre-von Arnim, Rashmi Kumar, Patrick T Wilson, Tigist Bacha, Abenezer Tirsit Aklilu, Tsegazeab Laeke Teklemariam, Shubhada Hooli, Lisine Tuyisenge, Easmon Otupiri, Anthony Fabio, John Gianakas, Patrick M Kochanek, Derek C Angus, Robert C Tasker
OBJECTIVES: To assess the frequency, interventions, and outcomes of children presenting with traumatic brain injury or infectious encephalopathy in low-resource settings. DESIGN: Prospective study. SETTING: Four hospitals in Sub-Saharan Africa. PATIENTS: Children age 1 day to 17 years old evaluated at the hospital with traumatic brain injury or infectious encephalopathy. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: We evaluated the frequency and outcomes of children presenting consecutively over 4 weeks to any hospital department with traumatic brain injury or infectious encephalopathy...
April 16, 2018: Pediatric Critical Care Medicine
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