Search results for "Convulsion"

showing 9 items of 9 documents

Sidney Armor Reeve: Engineer, Inventor, Progressive, and Underappreciated Utopian

2022

Sidney Armor Reeve, professional engineer and amateur historian, economist, and sociologist, writing during what has been described as the Progressive Era, at-tacked the very foundations of the existing economic and social orders. He explic-itly criticized the dominant commercialism of the capitalist society as being a can-cer, a major cause of inequality and unemployment, offering instead a program of reform that, while some reviewers characterized it as consistent with the program of the socialists, presented something of an alternative vision, one recognizing the primacy of the Ultimate Consumer. His remedy, favoring as it did the central con-trol of the economy, shared at least commonal…

Economics and EconometricsHistoryPublic AdministrationSettore SECS-P/04 - Storia Del Pensiero EconomicoSidney A. Reeve Progressivism Utopianism Social energetics Social convulsion Competition Social and economic planning.
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Efficacy of levetiracetam in the treatment of drug-resistant Rett Syndrome.

2010

Rett syndrome (RTT) is a progressive neurological disorder characterized by a wide spectrum of phenotypes. Epilepsy is reported to occur in 50–90% of patients with RTT; some develop medically refractory epilepsy. The aim of this study is to investigate the efficacy of levetiracetam (LEV) in drug-resistant patients with RTT. This prospective, pragmatic, open-label study consisted of an 8-week baseline period and a 6-month evaluation period. Efficacy variable was the mean frequency of monthly seizures before, and after 3 and 6 months of treatment with LEV. Eight female patients, aged 7.5–19 years (M12.8 ± 5) entered the study. Mean age at epilepsy onset was 25.8 ± 14.1 months. All patients sh…

Pediatricsmedicine.medical_specialtyLevetiracetamAdolescentMethyl-CpG-Binding Protein 2medicine.medical_treatmentRett syndromeNeurological disorderDrug Administration ScheduleCentral nervous system diseasedrug therapy/geneticsYoung AdultEpilepsyanalogs /&/ derivatives/therapeutic useSeizuresConvulsionmedicineRett SyndromeHumansgeneticsEEGProspective StudiesMyoclonic seizuresChildProspective cohort studyPsychiatryDrug-resistanceAnalysis of Variancebusiness.industryPatient SelectionFocal seizureElectroencephalographymedicine.diseaseAdolescent Analysis of Variance Anticonvulsants; therapeutic use Child Drug Administration Schedule Electroencephalography Female Humans Methyl-CpG-Binding Protein 2; genetics Patient Selection Piracetam; analogs /&/ derivatives/therapeutic use Prospective Studies Quality of Life Rett Syndrome; drug therapy/genetics Seizures; drug therapy/genetics Treatment Outcome Young AdultPiracetamSettore MED/39 - Neuropsichiatria InfantileTreatment OutcomeAnticonvulsantNeurologytherapeutic useQuality of LifeAnticonvulsantsFemaleNeurology (clinical)Levetiracetammedicine.symptombusinessmedicine.drug
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Lack of SCN1A Mutations in Familial Febrile Seizures

2002

Summary:  Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS+) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families were selected throughout a collaborative study of the Italian League Against Epilepsy. For each index case, the entire coding region of SCN1A was screened by denaturant high-performance liquid chromatography. DNA fragments showing variant chromatograms were subsequently sequenced. Results: Thirty-two FS families accounting for 91 affected indiv…

GAMMA-2-SUBUNITMaleFebrile convulsionsDNA Mutational Analysismedicine.disease_causePolymerase Chain ReactionSodium ChannelsFebrileEpilepsyExonPLUSDNA Mutational AnalysisGene duplicationChildIndex caseChromatography High Pressure LiquidGeneticsChromatographyMutationIdiopathic epilepsyExonsNeurologyIon channelsHigh Pressure LiquidFemaleGeneralized epilepsy with febrile seizures plusMutationsAdultAdolescentGENERALIZED EPILEPSYNerve Tissue ProteinsSeizures FebrileSeizuresGeneticsmedicineHumansFamilybusiness.industryCONVULSIONSGene AmplificationSODIUM-CHANNELmedicine.diseaseGENEDYSFUNCTIONNAV1.1 Voltage-Gated Sodium ChannelFebrile convulsions; Genetics; Idiopathic epilepsy; Ion channels; Mutations; Adolescent; Adult; Child; Chromatography High Pressure Liquid; DNA Mutational Analysis; Exons; Female; Gene Amplification; Humans; Male; Mutation; NAV1.1 Voltage-Gated Sodium Channel; Nerve Tissue Proteins; Polymerase Chain Reaction; Seizures Febrile; Sodium Channels; FamilyMutationMyoclonic epilepsyNeurology (clinical)businessEpilepsia
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No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures

2005

A missense mutation in the gene encoding the alpha(2) Subunit of the Na+,K+ ATPase pump (ATP1A2) was found in a family with both familial hemiplegic migraine (FHM) and Benign Familial Infantile Seizures (BFIC). As it is still unclear whether ATP1A2 is responsible for pure BFIC syndromes, we checked mutations of the ATP1A2 gene in probands of 12 Italian multiplex families with pure BFIC, who were negative for mutations in the SCN2A gene. We screened the ATP1A2 gene by denaturing high performance liquid chromatography (D-HPLC) and direct sequencing of DNA fragments showing an aberrant elution pattern. We found one exonic variant and five intronic variants, none leading to significant amino ac…

ProbandBenign NeonatalMigraine DisordersMutation MissenseBenign familial infantile convulsionsBiologymedicine.disease_causeDenaturing high performance liquid chromatographyBenign familial infantile convulsions; Epilepsy; Familial hemiplegic migraine; Genetics; Epilepsy Benign Neonatal; Exons; Family Health; Humans; Infant; Introns; Italy; Migraine Disorders; Sodium-Potassium-Exchanging ATPase; Mutation MissenseExonATP1A2GeneticsmedicineHumansMissense mutationGeneFamilial hemiplegic migraineFamilial hemiplegic migraineFamily HealthGeneticsMutationEpilepsyGeneral NeuroscienceInfantExonsmedicine.diseaseEpilepsy Benign NeonatalIntronsItalyMutationBenign familial infantile convulsionMissenseSodium-Potassium-Exchanging ATPaseNeuroscience Letters
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Benign nocturnal alternating hemiplegia of childhood

2018

Objective: To describe the clinical spectrum of benign nocturnal alternating hemiplegia of childhood (BNAHC) including long-term follow-up data of previously published cases and to propose an underlying genetic cause of this disorder. Methods: We studied the medical data of two novel patients, reviewed the literature on BNAHC, and gathered information of the most recent follow-up of published cases regarding the course of episodes, further development, attempted drugs, ancillary investigations, and sequelae. Results: All patients, i.e. two novel cases and twelve patients identified in the literature (13 boys, 1 girl, age at onset four months to three years), experienced episodes of hemipleg…

0301 basic medicineMaleExome sequencingPediatricsmedicine.medical_specialtyHeterozygoteHemiplegiaNerve Tissue ProteinsPATIENTSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]03 medical and health sciences0302 clinical medicinePRRT2 MUTATIONSmedicineHumansIctalPAROXYSMAL KINESIGENIC DYSKINESIAFamily historyPRRT2 geneExome sequencingCryingbusiness.industryAlternating hemiplegia of childhoodInfantMembrane ProteinsGeneral MedicineParoxysmal dyskinesiamedicine.diseaseDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]GENESleep deprivation030104 developmental biologyPhenotypeTreatment OutcomeSYNAPTIC-TRANSMISSIONMigraineMIGRAINEChild PreschoolPediatrics Perinatology and Child HealthDisease ProgressionNeurology (clinical)medicine.symptombusinessINFANTILE CONVULSIONS030217 neurology & neurosurgeryGene DeletionBenign nocturnal alternating hemiplegia of childhoodEuropean Journal of Paediatric Neurology
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Oral findings in Rett syndrome : a systematic review of the dental literature

2010

Rett syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. The present review describes the 35 cases of RS Publisher in the indexed literature (Medline) ? the first corresponding to 1985 and the last to the year 2007. Certain oral manifestations of the disease are derived from the drug treatment prescribed to control the disease, while others are common to other clinical conditions characterized by convulsion activity, difficulties for correct oral hygiene, walking problems and/or a…

medicine.medical_specialtyAlternative medicineMEDLINERett syndromeNeurological disorderDiseaseOral hygieneConvulsionRett SyndromemedicineHumansChildPsychiatryGeneral Dentistrybusiness.industrymedicine.disease:CIENCIAS MÉDICAS [UNESCO]OtorhinolaryngologyUNESCO::CIENCIAS MÉDICASBruxismFemaleSurgerymedicine.symptomMouth DiseasesbusinessDevelopmental regression
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Ensayo clínico multicéntrico, aleatorizado y enmascarado con topiramato versus placebo para el tratamiento de recién nacidos con encefalopatía hipóxi…

2021

Antecedentes: La encefalopatía hipóxico-isquémica (EHI) perinatal constituye una de de las principales causas de muerte o discapacidad a largo plazo en recién nacidos a término en el mundo occidental, afectando a aproximadamente 1-4 por cada 1000 nacidos vivos y, en consecuencia, a alrededor de 5000-20000 recién nacidos por año en Europa. La hipotermia terapéutica se ha convertido en el tratamiento estándar de la EHI moderada o grave, siendo una terapia segura y eficaz para mejorar el desarrollo neurológico tras un insulto hipóxico-isquémico perinatal. A pesar de la hipotermia y las mejoras en los cuidados intensivos neonatales, el 45-50% de los recién nacidos con EHI moderada o grave muere…

encefalopatía hipóxico-isquémica neonatalexcitotoxicidadmetabolismo energéticobiomarcadores estrés oxidativohyperexcitabilityoxidative stress biomarkerstopiramato:CIENCIAS MÉDICAS [UNESCO]anaerobic metabolismUNESCO::CIENCIAS MÉDICAShypoxic-ischemic encephalopathyconvulsioneshipotermiaseizures
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Risk of febrile convulsions after MMRV vaccination in comparison to MMR or MMR+V vaccination.

2014

Abstract Background In July 2006, Priorix-Tetra™, a combined measles-mumps-rubella-varicella (MMRV) vaccine, was licensed in Germany. Since a postlicensure study had shown a more than twofold elevated risk of febrile convulsions (FC) after first dose vaccination with the combined MMRV vaccine ProQuad ® compared to separately administered MMR and V vaccines (MMR+V), the Paul-Ehrlich-Institute, the German regulatory agency for vaccine licensing and safety, requested a study investigating the risk of FC for Priorix-Tetra™. Methods We performed a matched cohort study based on claims data of more than 17 million insurees in the German Pharmacoepidemiological Research Database. All children born …

MalePediatricsmedicine.medical_specialtymedicine.vaccineSeizures FebrileChickenpox VaccineCohort StudiesGermanymedicineClinical endpointHumansVaccines CombinedFebrile convulsionsMMRV vaccineGeneral VeterinaryGeneral Immunology and Microbiologybusiness.industryConfoundingVaccinationPublic Health Environmental and Occupational HealthInfantOdds ratioVaccinationInfectious DiseasesImmunizationRelative riskChild PreschoolMolecular MedicineFemalebusinessMeasles-Mumps-Rubella VaccineVaccine
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Generalization of seizures parallels the formation of "dark" neurons in the hippocampus and pontine reticular formation after focal-cortical applicat…

2008

Abstract Distribution and time course of the occurrence of “dark” neurons were compared with the EEG activity and behavior of rats during 4-aminopyridine (4-AP) induced epileptic seizures. A crystal of the K + channel blocker 4-AP (0.5 mg/kg) was placed onto the exposed parieto-occipital cortex of Halothane-anesthetized rats for 40 min. Thereafter, the anesthesia was discontinued and the behavioral signs of the epileptic seizure activity were observed. The presence of “dark” neurons was demonstrated by the sensitive silver method of Gallyas in rats sacrificed at 0, 3 and 6 h after the end of the 4-AP crystal application. The EEG activity was recorded in the rats with longer survival times. …

Male* Dark neuronMicroinjections* Epilepsy; * Dark neuron; * Hippocampus; * Pontine reticular formation; * Cell injury; * Animal model; * Neurogliaform cell; * Astrocyte; * Status epilepticusHippocampus* Status epilepticusStatus epilepticusReticular formationHippocampusSettore BIO/09 - FisiologiaRats Sprague-DawleyEpilepsySeizuresPonsConvulsionmedicinePotassium Channel BlockersAnimals4-AminopyridineMolecular Biology* Animal modelNeurons* Pontine reticular formationBehavior AnimalChemistryGeneral NeuroscienceReticular Formation* Neurogliaform cellElectroencephalographyParamedian pontine reticular formation* Hippocampumedicine.disease* Cell injuryRats* Astrocyte* Epilepsymedicine.anatomical_structureMossy Fibers HippocampalNeurology (clinical)Epileptic seizureNeuronmedicine.symptomNeuroscienceDevelopmental Biology
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