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Kenichiro Sato, Noritoshi Arai, Aki Omori, Ayumi Hida, Akio Kimura, Sousuke Takeuchi
PURPOSE: Hyperammonaemia is frequently observed in patients who have experienced convulsive seizures. Although excessive muscle contraction is presumed to be responsible for the elevated levels of ammonia, the underlying mechanism is poorly understood. The present study aimed to identify the independent factors associated with ammonia elevation using large-scale multivariate analysis. METHODS: We conducted a cross-sectional study involving 379 adult patients who had been transported to our emergency department and treated for unprovoked convulsive seizures between August 2010 and September 2015...
October 6, 2016: Seizure: the Journal of the British Epilepsy Association
Nicole A Hawkins, Nicole J Zachwieja, Alison R Miller, Lyndsey L Anderson, Jennifer A Kearney
A substantial number of mutations have been identified in voltage-gated sodium channel genes that result in various forms of human epilepsy. SCN1A mutations result in a spectrum of severity ranging from mild febrile seizures to Dravet syndrome, an infant-onset epileptic encephalopathy. Dravet syndrome patients experience multiple seizures types that are often refractory to treatment, developmental delays, and elevated risk for SUDEP. The same sodium channel mutation can produce epilepsy phenotypes of varying clinical severity...
October 2016: PLoS Genetics
Muhammad I Naseer, Adeel G Chaudhary, Mahmood Rasool, Gauthaman Kalamegam, Fai T Ashgan, Mourad Assidi, Farid Ahmed, Shakeel A Ansari, Syed Kashif Zaidi, Mohammed M Jan, Mohammad H Al-Qahtani
BACKGROUND: Epilepsy is genetically complex but common brain disorder of the world affecting millions of people with almost of all age groups. Novel Copy number variations (CNVs) are considered as important reason for the numerous neurodevelopmental disorders along with intellectual disability and epilepsy. DNA array based studies contribute to explain a more severe clinical presentation of the disease but interoperation of many detected CNVs are still challenging. RESULTS: In order to study novel CNVs with epilepsy related genes in Saudi family with six affected and two normal individuals with several forms of epileptic seizures, intellectual disability (ID), and minor dysmorphism, we performed the high density whole genome Agilent sure print G3 Hmn CGH 2x 400 K array-CGH chips analysis...
October 17, 2016: BMC Genomics
J M Koshy, S Mohan, D Deodhar, M John, A Oberoi, A Pannu
BACKGROUND: Though cryptococcal meningitis (CM) is recognized as a disease of the immunocompromised, studies have implicated that it also affect immunocompetent patients. METHODOLOGY: This was a cross sectional study conducted in the Department of Medicine of a tertiary teaching institution in North India. All the patients diagnosed with CM on the basis of detection of cryptococcal antigen or the presence of capsulated budding yeast cells on India ink preparation, from April 2009 to March2015 were included in the study...
October 2016: Journal of the Association of Physicians of India
Joan Yw Liu, Cheryl Reeves, Beate Diehl, Antonietta Coppola, Aliya Al-Hajri, Chandrashekar Hoskote, Salim Al Mughairy, Mohamed Tachrount, Michael Groves, Zuzanna Michalak, Kevin Mills, Andrew W McEvoy, Anna Miserocchi, Sanjay M Sisodiya, Maria Thom
OBJECTIVE: This study reports on a novel brain pathology in young patients with Frontal Lobe Epilepsy that is distinct from Focal Cortical Dysplasia. METHODS: Surgical specimens from twenty young adults with frontal lobe epilepsy (mean age, 30 years) were investigated with histological/immunohistochemical markers for cortical laminar architecture, mammalian target of rapamycin pathway activation and inhibition, cellular autophagy, and synaptic vesicle-mediated trafficking as well as proteomics analysis...
October 20, 2016: Annals of Neurology
Shery Jacob, Anroop B Nair
Given the distinctive characteristics of both epilepsy and antiepileptic drugs (AEDs), therapeutic drug monitoring (TDM) can make a significant contribution to the field of epilepsy. The measurement and interpretation of serum drug concentrations can be of benefit in the treatment of uncontrollable seizures and in cases of clinical toxicity; it can aid in the individualization of therapy and in adjusting for variable or nonlinear pharmacokinetics; and can be useful in special populations such as pregnancy. This review examines the potential for TDM of newer AEDs such as eslicarbazepine acetate, felbamate, gabapentin, lacosamide, lamotrigine, levetiracetam, perampanel, pregabalin, rufinamide, retigabine, stiripentol, tiagabine, topiramate, vigabatrin, and zonisamide...
October 20, 2016: Drugs in R&D
Shasha Yuan, Weidong Zhou, Junhui Li, Qi Wu
Epilepsy is a serious chronic neurological disorder, which affects more than 50 million people worldwide, and automatic seizure detection on EEG recordings is extremely required in the diagnosis and monitoring of epilepsy. This paper presents a novel seizure detection method using sparse representation-based Earth Mover's Distance (SR-EMD). In the proposed algorithm, wavelet decomposition is executed on the original EEG recordings with five scales, and the scales 3, 4 and 5 are selected to structure the distributions of EEG signals...
October 20, 2016: Medical & Biological Engineering & Computing
Young Joon Kwon, Marni J Falk, Michael J Bennett
CLN3 disease (Spielmeyer-Vogt-Sjogren-Batten disease, previously known as classic juvenile neuronal ceroid lipofuscinosis, NCL) is a pediatric-onset progressive neurodegenerative disease characterized by progressive vision loss, seizures, loss of cognitive and motor function, and early death. While no precise biochemical mechanism or therapies are known, the pathogenesis of CLN3 disease involves intracellular calcium accumulation that may trigger apoptosis. Our prior work in in vitro cell models of CLN3 deficiency suggested that FDA-approved calcium channel antagonists may have therapeutic value...
October 20, 2016: Journal of Inherited Metabolic Disease
Kengo Hirota, Hiroyuki Akagawa, Asami Kikuchi, Hideki Oka, Akihiko Hino, Tetsuryu Mitsuyama, Toshiyuki Sasaki, Hideaki Onda, Takakazu Kawamata, Hidetoshi Kasuya
Cerebral cavernous malformation is a neurovascular abnormality that can cause seizures, focal neurological deficits and intracerebral hemorrhage. Familial forms of this condition are characterized by de novo formation of multiple lesions and are autosomal-dominantly inherited via CCM1/KRIT1, CCM2/MGC4607 and CCM3/PDCD10 mutations. We identified three truncating mutations in KRIT1 from three Japanese families with CCMs: a novel frameshift mutation, a known frameshift mutation and a known splice-site mutation that had not been previously analyzed for aberrant splicing...
2016: Human Genome Variation
Bryan M Corbett, Charles O'Connell, Mallory A Boutin, Nabil I Fatayerji, Charles W Sauer
BACKGROUND Methylergonovine is an ergot alkaloid used to treat post-partum hemorrhage secondary to uterine atony. Mistaking methylergonovine for vitamin K with accidental administration to the neonate is a rare iatrogenic illness occurring almost exclusively in the delivery room setting. Complications of ergot alkaloids in neonates include respiratory depression, seizures, and death. CASE REPORT A term infant was inadvertently given 0.1 mg of methylergonovine intramuscularly in the right thigh. The error was only noted when the vial of medication was scanned, after administration, identifying it as methylergonovine rather than vitamin K...
October 21, 2016: American Journal of Case Reports
Joseph S Hudson, Kingsley Abode-Iyamah, Yasunori Nagahama, Chandan G Reddy
BACKGROUND: Ionic contrast, if accidentally injected into the intrathecal space during routine imaging studies or interventional procedures, may significantly interfere with neuronal activity, potentially causing ascending tonic-clonic seizure syndrome and even death. As a result, ionic contrast is strictly contraindicated for intrathecal use. Rapid recognition of the condition followed by prompt management, typically involving aggressive cerebrospinal fluid (CSF) drainage, is critical to improving patient outcome...
October 17, 2016: World Neurosurgery
Song Hee Lee, Bo Young Choi, Jin Hee Kim, A Ra Kho, Min Sohn, Hong Ki Song, Hui Chul Choi, Sang Won Suh
Choline alfoscerate (α-GPC) is a common choline compound and acetylcholine precursor in the brain, which has been shown to be effective in the treatment of Alzheimer's disease and dementia. α-GPC has been shown to enhance memory and cognitive function in stroke and Alzheimer's patients but currently remains untested in patients suffering from epilepsy. This study aimed to evaluate whether α-GPC treatment after seizure can ameliorate seizure-induced cognitive impairment and neuronal injury. The potential therapeutic effects of α-GPC on seizure-induced cognitive impairment were tested in an animal model of pilocarpine-induced seizure...
October 17, 2016: Brain Research
Vera Dinkelacker, Sophie Dupont, Séverine Samson
The new classification of epilepsy stratifies the disease into an acute level, based on seizures, and an overarching chronic level of epileptic syndromes (Berg et al., 2010). In this new approach, seizures are considered either to originate and evolve in unilateral networks or to rapidly encompass both hemispheres. This concept extends the former vision of focal and generalized epilepsies to a genuine pathology of underlying networks. These key aspects of the new classification can be linked to the concept of cognitive curtailing in focal epilepsy...
October 17, 2016: Epilepsy & Behavior: E&B
Amara Krag, Gregory L Holmes
Infantile spasms, one of the catastrophic epilepsies, can be a diagnostic challenge since the clinical manifestations may be subtle and may mimic benign conditions. Because of the rarity of the condition, primary care physicians and pediatricians may never see a case of infantile spasms during their career and may be unfamiliar with the seizure semiology. This is a serious issue since there is evidence that early diagnosis and treatment may improve outcome. Patients and families are increasingly using the internet more than their physician as a source of medical information about epilepsy...
October 17, 2016: Epilepsy & Behavior: E&B
Ru-Qian He, Qing-Yi Zeng, Pan Zhu, Yi-Xin Bao, Rong-Yuan Zheng, Hui-Qin Xu
OBJECTIVE: The objective of this study was to estimate the risk of a seizure relapse and the high-risk period of recurrence after antiepileptic drug (AED) withdrawal and to determine the predictive factors for a seizure relapse in adult patients with focal epilepsy who were seizure-free for more than 2years. METHODS: Using the Wenzhou Epilepsy Follow-Up Registry Database, 200 adult patients with focal epilepsy were recruited, who were undergoing follow-up, met the inclusion criteria of this study, were seizure-free for more than 2years, began withdrawing between June 2003 and June 2014, and were followed up prospectively for at least 1year or until a seizure relapse...
October 17, 2016: Epilepsy & Behavior: E&B
Glória Maria Almeida Souza Tedrus, Lineu Corrêa Fonseca, Marina Nobrega Augusto, Fernanda Savoia Trindade
PURPOSE: In patients with epilepsy (PWE), relationships between depression, epilepsy characteristics, and cognitive aspects are complex. This study aimed to assess the occurrence of possible major depressive episode in PWE and to verify whether it is associated with the clinical aspects of the disease and cognition. METHODS: Two hundred consecutive PWE with a mean age and standard deviation of 47.6 (±15.1) years were included in the study. We determined whether their Neurological Disorders Depression Inventory for Epilepsy (NDDI-E) scores were associated with their clinical, cognitive, and QOLIE-31 aspects using a significance level of 5% (p<0...
October 17, 2016: Epilepsy & Behavior: E&B
Sándor Beniczky, Ivana Rosenzweig, Michael Scherg, Todor Jordanov, Benjamin Lanfer, Göran Lantz, Pål Gunnar Larsson
PURPOSE: To determine the agreement between five different methods of ictal EEG source imaging, and to assess their accuracy in presurgical evaluation of patients with focal epilepsy. It was hypothesized that high agreement between methods was associated with higher localization-accuracy. METHODS: EEGs were recorded with a 64-electrode array. Thirty-eight seizures from 22 patients were analyzed using five different methods phase mapping, dipole fitting, CLARA, cortical-CLARA and minimum norm...
October 6, 2016: Seizure: the Journal of the British Epilepsy Association
Min Wu, Ting Wan, Xiongbo Wan, Yuxiao Du, Jinhua She
This letter describes the improvement of two methods of detecting high-frequency oscillations (HFO) and their use to localize epileptic seizure onset zones (SOZs). The wavelet transform (WT) method was improved by combining the complex Morlet WT with Shannon entropy to enhance the temporal-frequency resolution during HFO detection. And the matching pursuit (MP) method was improved by combining it with an adaptive genetic algorithm to improve the speed and accuracy of the calculations for HFO detection. The HFOs detected by these two methods were used to localize SOZs in five patients...
October 20, 2016: Neural Computation
Lawrence C Ku, Huali Wu, Rachel G Greenberg, Kevin D Hill, Daniel Gonzalez, Christoph P Hornik, Alysha Berezny, Jeffrey T Guptill, Wenlei Jiang, Nan Zheng, Michael Cohen-Wolkowiez, Chiara Melloni
BACKGROUND: Defining a drug's therapeutic index (TI) is important for patient safety and regulating the development of generic drugs. For many drugs, the TI is unknown. A systematic approach was developed to characterize the TI of a drug using therapeutic drug monitoring and electronic health record (EHR) data with pharmacokinetic (PK) modeling. This approach was first tested on phenytoin, which has a known TI, and then applied to lamotrigine, which lacks a defined TI. METHODS: Retrospective EHR data from patients in a tertiary hospital were used to develop phenytoin and lamotrigine population PK models and to identify adverse events (anemia, thrombocytopenia, and leukopenia) and efficacy outcomes (seizure-free)...
October 19, 2016: Therapeutic Drug Monitoring
Udaya Seneviratne, Graham Hepworth, Mark Cook, Wendyl D'Souza
PURPOSE: To evaluate electroencephalographic (EEG) differences among syndromes in genetic generalized epilepsy (GGE) based on quantified data. METHODS: 24-hour ambulatory EEGs were recorded in consecutive patients diagnosed with GGE. All epileptiform EEG abnormalities were quantified into density scores (total duration of epileptiform discharges per hour). We conducted one-way analysis of variance (ANOVA) to find out differences in EEG density scores among the syndromes...
October 19, 2016: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
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