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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
#1
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/29653338/long-term-effects-of-adjunctive-perampanel-on-cognition-in-adolescents-with-partial-seizures
#2
Jesus E Piña-Garza, Lieven Lagae, Vicente Villanueva, J Ben Renfroe, Antonio Laurenza, Betsy Williams, Dinesh Kumar, Kimford J Meador
OBJECTIVE: The aim of this study was to evaluate long-term effects of adjunctive perampanel on cognition, efficacy, growth, safety, and tolerability in adolescents with inadequately controlled partial seizures. METHODS: Study 235, a multicenter, randomized, double-blind, placebo-controlled, parallel-group, Phase II study with an open-label extension phase (NCT01161524), was primarily designed to assess the effects of adjunctive perampanel on cognition. Patients (aged ≥12 to <18years) had a diagnosis of epilepsy with inadequately controlled partial seizures, with or without secondary generalization, despite receiving 1-3 antiepileptic drugs...
April 10, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29597138/rapid-eye-movement-sleep-behavior-disorder-or-epileptic-seizure-during-sleep-a-video-analysis-of-motor-events
#3
Vi-Huong Nguyen-Michel, Ovidio Solano, Smaranda Leu-Semenescu, Aurélie Pierre-Justin, Ana Gales, Vincent Navarro, Michel Baulac, Claude Adam, Sophie Dupont, Isabelle Arnulf
PURPOSE: To compare the motor semiology of sleep behavior disorder (RBD) during rapid eye movement (REM) with epileptic seizures in non-REM and REM sleep. METHODS: We analyzed the types and frequency of motor events from videos of patients with RBD (n = 15, mean age 64.8 years, 179 motor episodes) and patients with epilepsy (n = 15, mean age 34.4 years, 87 sleep-related epileptic seizures including 34 during REM sleep). RESULTS: Patients with sleep-related epileptic seizures more often woke up abruptly (28% vs...
March 21, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/29527492/brain-functional-connectivity-in-sleep-related-hypermotor-epilepsy
#4
Stefania Evangelisti, Claudia Testa, Lorenzo Ferri, Laura Ludovica Gramegna, David Neil Manners, Giovanni Rizzo, Daniel Remondini, Gastone Castellani, Ilaria Naldi, Francesca Bisulli, Caterina Tonon, Paolo Tinuper, Raffaele Lodi
Objectives: To evaluate functional connectivity (FC) in patients with sleep-related hypermotor epilepsy (SHE) compared to healthy controls. Methods: Resting state fMRI was performed in 13 patients with a clinical diagnosis of SHE (age = 38.3 ± 11.8 years, 6 M) and 13 matched healthy controls (age = 38.5 ± 10.8 years, 6 M).Data were first analysed using probabilistic independent component analysis (ICA), then a graph theoretical approach was applied to assess topological and organizational properties at the whole brain level...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29461904/an-investigation-of-the-association-between-seizures-autism-symptomology-and-developmental-functioning-in-young-children
#5
Claire O Burns, Johnny L Matson
OBJECTIVE: The aim of the present study was to explore whether a history of seizures was associated with autism symptom severity and developmental functioning in young children. METHODS: Autism symptom severity and developmental functioning were compared between children with and without a history or seizures who either had atypical development or met criteria for autism spectrum disorder (ASD) based on review of records by a licensed clinical psychologist. RESULTS: Parents of children who met criteria for ASD reported lower levels of autism symptomology when the child had a history of seizures, while the opposite trend was found for children with atypical development...
February 20, 2018: Developmental Neurorehabilitation
https://www.readbyqxmd.com/read/29414382/interictal-dysphoric-disorder-further-doubts-about-its-epilepsy-specificity-and-its-independency-from-common-psychiatric-disorders
#6
Kirsten Labudda, Dominik Illies, Christian G Bien, Frank Neuner
PURPOSE: The interictal dysphoric disorder (IDD) is a proposed epilepsy-specific psychiatric condition characterized by a conglomerate of symptoms such as depression, irritability, euphoria, and anxiety. However, there are doubts about IDD as an independent entity and about its presumed epilepsy-specific nature. METHODS: Here, we investigated the association between psychiatric disorders and IDD in 120 patients with epilepsy, also analyzing potential associations between IDD symptoms and epilepsy-related variables...
January 29, 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29350182/the-role-of-eeg-in-the-diagnosis-and-classification-of-the-epilepsy-syndromes-a-tool-for-clinical-practice-by-the-ilae-neurophysiology-task-force-part-2
#7
Michalis Koutroumanidis, Alexis Arzimanoglou, Roberto Caraballo, Sushma Goyal, Anna Kaminska, Pramote Laoprasert, Hirokazu Oguni, Guido Rubboli, William Tatum, Pierre Thomas, Eugen Trinka, Luca Vignatelli, Solomon L Moshé
The concept of epilepsy syndromes, introduced in 1989, was defined as "clusters of signs and symptoms customarily occurring together". Definition of epilepsy syndromes based on electro-clinical features facilitated clinical practice and, whenever possible, clinical research in homogeneous groups of patients with epilepsies. Progress in the fields of neuroimaging and genetics made it rapidly clear that, although crucial, the electro-clinical description of epilepsy syndromes was not sufficient to allow much needed development of targeted therapies and a better understanding of the underlying pathophysiological mechanisms of seizures...
December 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29331171/the-genotypic-and-phenotypic-spectrum-of-mto1-deficiency
#8
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, Michael Champion, Charu Deshpande, Ali Dursun, Riza K Ozgul, Peter Freisinger, Ian Garber, Tobias B Haack, Rita Horvath, Ivo Barić, Ralf A Husain, Leo A J Kluijtmans, Urania Kotzaeridou, Andrew A Morris, Colin J Ross, Saikat Santra, Jan Smeitink, Mark Tarnopolsky, Saskia B Wortmann, Johannes A Mayr, Michaela Brunner-Krainz, Holger Prokisch, Wyeth W Wasserman, Ron A Wevers, Udo F Engelke, Richard J Rodenburg, Teck Wah Ting, Robert McFarland, Robert W Taylor, Ramona Salvarinova, Clara D M van Karnebeek
BACKGROUND: Mitochondrial diseases, a group of multi-systemic disorders often characterized by tissue-specific phenotypes, are usually progressive and fatal disorders resulting from defects in oxidative phosphorylation. MTO1 (Mitochondrial tRNA Translation Optimization 1), an evolutionarily conserved protein expressed in high-energy demand tissues has been linked to human early-onset combined oxidative phosphorylation deficiency associated with hypertrophic cardiomyopathy, often referred to as combined oxidative phosphorylation deficiency-10 (COXPD10)...
January 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29327519/psychiatric-co-morbidities-in-women-with-epilepsy
#9
Uma Sundar, Sonal Thakur Honrao, Nilesh Shah
Background: The co-existence of psychiatric co-morbidities with Epilepsy in women is multifactorial and complex, being closely related to hormonal status, medication side effects, and psychosocial factors. Aims: We aimed to study associated Psychiatric co-morbidities in women with Epilepsy (WWE), and correlate the same with seizure subtype and medication , compliance with treatment and seizure control. Material and Methods: This was a prospective, interview based study in OPD over 18 months, evaluating WWE over 13 years of age with at least 1 seizure in the last 1 year...
December 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29274891/selection-and-ranking-of-patient-video-cases-in-paediatric-neurology-in-relation-to-learner-levels
#10
Thomas Balslev, Arno M M Muijtjens, Sabine Frølich Maarbjerg, Willem de Grave
BACKGROUND: Teaching and learning with patient video cases may add authenticity, enhance diagnostic accuracy and improve chances of early diagnosis. The aim of this study is firstly to identify selection criteria for key Patient video cases (PVCs), secondly to identify trends in relevance of PVCs for learner levels and thirdly, to rank PVCs for learner levels. METHODS: Based on a literature review, we identified criteria for key PVCs for use in paediatric neurology...
December 2, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29235617/-predictors-of-seizure-related-injuries-in-adult-patients-with-epilepsy-in-colombia-a-case-control-study
#11
J P Orozco-Hernandez, J F Quintero-Moreno, C Duque-Salazar, A Gil-Restrepo, J William-Martinez, A Lizcano-Meneses, H Carmona-Villada
AIM: To identify predictors of seizure related injuries in adult patients with epilepsy in Colombia. SUBJECTS AND METHODS: Case-control study. Patients with a diagnosis of epilepsy aged 16 years and older who attended the Neurocentro epilepsy center between 2013-2016 and were attended by a specialist in epilepsy were included. Patients with seizure related injuries were defined as the case. The control group was conformed by those without seizure related injuries...
December 16, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/29220741/an-update-on-the-prevalence-and-incidence-of-epilepsy-among-older-adults
#12
Queeny Ip, Daniel C Malone, Jenny Chong, Robin B Harris, David M Labiner
OBJECTIVE: To estimate the prevalence and incidence of epilepsy among beneficiaries of Arizona Medicare aged 65 and over. METHODS: An analysis of Medicare administrative claims data for 2009-2011 for the State of Arizona was conducted. Epilepsy was defined as a beneficiary who had either≥one claim with diagnostic code of 345.xx (epilepsy) or at least two claims with diagnosis code of 780.3x (seizure) ≥30days apart. Stroke-related and psychiatric comorbidities were determined by diagnostic codes...
January 2018: Epilepsy Research
https://www.readbyqxmd.com/read/29210926/hospital-readmissions-after-pediatric-trauma
#13
Aline B Maddux, Peter E DeWitt, Peter M Mourani, Tellen D Bennett
OBJECTIVES: To determine the rate, etiology, and timing of unplanned and planned hospital readmissions and to identify risk factors for unplanned readmission in children who survive a hospitalization for trauma. DESIGN: Multicenter retrospective cohort study of a probabilistically linked dataset from the National Trauma Data Bank and the Pediatric Health Information System database, 2007-2012. SETTING: Twenty-nine U.S. children's hospitals...
January 2018: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/29153996/clinical-presentation-of-anti-n-methyl-d-aspartate-receptor-and-anti-voltage-gated-potassium-channel-complex-antibodies-in-children-a-series-of-24-cases
#14
Bahadir Konuskan, Mirac Yildirim, Haluk Topaloglu, Ilknur Erol, Ulkuhan Oztoprak, Huseyin Tan, Rahsan Gocmen, Banu Anlar
OBJECTIVE: The symptomatology and paraclinical findings of antibody-mediated encephalitis, a relatively novel disorder, are still being characterized in adults and children. A high index of suspicion is needed in order to identify these cases among children presenting with various neurological symptoms. The aim of this study is to examine the clinical, demographic and laboratory findings and outcome of children with anti-NMDAR and anti-VGKC encephalitis for any typical or distinctive features...
January 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29136314/syncope-prognosis-based-on-emergency-department-diagnosis-a-prospective-cohort-study
#15
Cristian Toarta, Muhammad Mukarram, Kirtana Arcot, Soo-Min Kim, Sarah Gaudet, Marco L A Sivilotti, Brian H Rowe, Venkatesh Thiruganasambandamoorthy
OBJECTIVE: Relatively little is known about outcomes after disposition among syncope patients assigned various diagnostic categories during emergency department (ED) evaluation. We sought to measure the outcomes among these groups within 30 days of the initial ED visit. METHODS: We prospectively enrolled adult syncope patients at six EDs and excluded patients with presyncope, persistent mental status changes, intoxication, seizure, and major trauma. Patient characteristics, ED management, diagnostic impression (presumed vasovagal, orthostatic, cardiac, or other/unknown) at the end of the ED visit, and physicians' confidence in assigning the etiology were collected...
November 14, 2017: Academic Emergency Medicine: Official Journal of the Society for Academic Emergency Medicine
https://www.readbyqxmd.com/read/29131884/seizures-and-encephalitis-in-myelin-oligodendrocyte-glycoprotein-igg-disease-vs-aquaporin-4-igg-disease
#16
Shahd H M Hamid, Dan Whittam, Mariyam Saviour, Amal Alorainy, Kerry Mutch, Samantha Linaker, Tom Solomon, Maneesh Bhojak, Mark Woodhall, Patrick Waters, Richard Appleton, Martin Duddy, Anu Jacob
Importance: Antibodies to myelin oligodendrocyte glycoprotein IgG (MOG-IgG) are increasingly detected in patients with non-multiple sclerosis-related demyelination, some of whom manifest a neuromyelitis optica (NMO) phenotype. Cortical involvement, encephalopathy, and seizures are rare in aquaporin 4 antibody (AQP4-IgG)-related NMO in the white European population. However, the authors encountered several patients with seizures associated with MOG-IgG disease. Objective: To compare incidence of seizures and encephalitis-like presentation, or both between AQP4-IgG-positive and MOG-IgG-positive patients...
January 1, 2018: JAMA Neurology
https://www.readbyqxmd.com/read/29097134/clinical-course-and-long-term-outcome-in-children-with-alteration-of-consciousness-underwent-continuous-eeg-monitoring-a-prospective-observational-study-in-thailand
#17
Thitiporn Fangsaad, Siriluk Assawabumrungkul, Anannit Visudtibhan
The study aims to explore the clinical course and long-term outcome in children with altered consciousness who underwent cEEG monitoring. A prospective observational study was conducted in neonatal and pediatric intensive care units from 1 September 2014 through 31 March 2017. Standard 10-20 cEEG monitoring was applied. Twenty children were included in this study. Their ages ranged from 1 day to 142.7 months (median age 40.6 months). Continuous EEG was commenced from 5 h to 5 days after the onset of alteration of consciousness (median 40...
January 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28984246/the-role-of-eeg-in-the-diagnosis-and-classification-of-the-epilepsy-syndromes-a-tool-for-clinical-practice-by-the-ilae-neurophysiology-task-force-part-1
#18
Michalis Koutroumanidis, Alexis Arzimanoglou, Roberto Caraballo, Sushma Goyal, Anna Kaminska, Pramote Laoprasert, Hirokazu Oguni, Guido Rubboli, William Tatum, Pierre Thomas, Eugen Trinka, Luca Vignatelli, Solomon L Moshé
The concept of epilepsy syndromes, introduced in 1989, was defined as "clusters of signs and symptoms customarily occurring together". Definition of epilepsy syndromes based on electro-clinical features facilitated clinical practice and, whenever possible, clinical research in homogeneous groups of patients with epilepsies. Progress in the fields of neuroimaging and genetics made it rapidly clear that, although crucial, the electro-clinical description of epilepsy syndromes was not sufficient to allow much needed development of targeted therapies and a better understanding of the underlying pathophysiological mechanisms of seizures...
September 1, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28946157/duplex-sonographic-diagnosis-of-perinatal-hemorrhagic-stroke
#19
Karl-Heinz Deeg
Children are particularly at risk for stroke in the neonatal period. Neonatal hemorrhagic stroke is rarer than ischemic stroke. The incidence is 40.7/100 000 live births. Hemorrhagic stroke is caused by a disruption in venous drainage usually due to local thrombosis. As a result of the nonspecific clinical symptoms in this age group, diagnosis is usually made too late. The only relatively specific symptom is a cerebral seizure during the first week of life. Therefore, stroke should be ruled out by diagnostic imaging in the case of any seizure in the first days of life...
October 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28922360/comparison-of-background-eeg-activity-of-different-groups-of-patients-with-idiopathic-epilepsy-using-shannon-spectral-entropy-and-cluster-based-permutation-statistical-testing
#20
Jose Antonio Urigüen, Begoña García-Zapirain, Julio Artieda, Jorge Iriarte, Miguel Valencia
Idiopathic epilepsy is characterized by generalized seizures with no apparent cause. One of its main problems is the lack of biomarkers to monitor the evolution of patients. The only tools they can use are limited to inspecting the amount of seizures during previous periods of time and assessing the existence of interictal discharges. As a result, there is a need for improving the tools to assist the diagnosis and follow up of these patients. The goal of the present study is to compare and find a way to differentiate between two groups of patients suffering from idiopathic epilepsy, one group that could be followed-up by means of specific electroencephalographic (EEG) signatures (intercritical activity present), and another one that could not due to the absence of these markers...
2017: PloS One
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