Search results for "Neurologic"

showing 10 items of 473 documents

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

2021

International audience; The collapsin response mediator protein (CRMP) family proteins are intracellular mediators of neurotrophic factors regulating neurite structure/spine formation and are essential for dendrite patterning and directional axonal pathfinding during brain developmental processes. Among this family, CRMP5/DPYSL5 plays a significant role in neuronal migration, axonal guidance, dendrite outgrowth, and synapse formation by interacting with microtubules. Here, we report the identification of missense mutations in DPYSL5 in nine individuals with brain malformations, including corpus callosum agenesis and/or posterior fossa abnormalities, associated with variable degrees of intel…

Models MolecularMale0301 basic medicineHydrolases[SDV]Life Sciences [q-bio]Hippocampal formationMedical and Health Sciences0302 clinical medicineNeurodevelopmental disorderTubulinModelsNeurotrophic factorsCerebellumIntellectual disability2.1 Biological and endogenous factorsMissense mutationAetiologyChilddendrite branchingGenetics (clinical)de novo missense variantsPediatricGenetics & HeredityDPYSL5Biological Sciences[SDV] Life Sciences [q-bio]corpus callosum agenesisMental HealthChild PreschoolNeurologicalFemaleMicrotubule-Associated ProteinsAdultNeuriteIntellectual and Developmental Disabilities (IDD)primary neuronal culturesMutation MissenseBiologyYoung Adult03 medical and health sciencesRare DiseasesMediatorReportIntellectual DisabilityGeneticsmedicineHumansPreschoolCorpus Callosum Agenesisbrain malformationNeurosciencesMolecularmedicine.diseaseneurodevelopmental disorderBrain Disorders030104 developmental biologyNeurodevelopmental DisordersMutationMissenseAgenesis of Corpus CallosumNeuroscience030217 neurology & neurosurgery
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Redistribution of aquaporin-4 in human glioblastoma correlates with loss of agrin immunoreactivity from brain capillary basal laminae

2003

Vasogenic edema is one of the most serious clinical problems in brain tumors and tightly connected to water shifts between the different fluid compartments in the brain. Aquaporin water channels have been recognized to have an important impact on the development of edematous swelling in the brain. Astrocytes, which are believed to induce or at least maintain the blood-brain barrier in the brain capillary endothelial cells, express the aquaporin isoform AQP4. Normally, AQP4 is highly concentrated in the glial membrane where astrocytes contact mesenchymal space, such as perivascular or brain superficial regions. Parenchymal membranes do not show any immunocytochemical AQP4-specific signal. We…

Models NeurologicalSynucleinsAquaporinNerve Tissue ProteinsBiologyAquaporinsBlood–brain barrierBasement MembranePathology and Forensic MedicineCellular and Molecular NeuroscienceGliomaUtrophinmedicineExtracellularAnimalsHumansAgrinDystroglycansAquaporin 4Membrane GlycoproteinsAgrinBrain NeoplasmsEndothelial Cellsmedicine.diseaseImmunohistochemistryRatsCell biologyCytoskeletal Proteinsmedicine.anatomical_structureAquaporin 4Immunologysense organsNeurology (clinical)GlioblastomaAstrocyteActa Neuropathologica
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Death in the substantia nigra: a motor tragedy

2007

It is well known that the death of dopaminergic neurons of the substantia nigra pars compacta (SNc) is the pathological hallmark of Parkinson's disease (PD), the second most common and disabling condition in the expanding elderly population. Nevertheless, the intracellular cascade of events leading to dopamine cell death is still unknown and, consequently, treatment is largely symptomatic rather than preventive. Moreover, the mechanisms whereby nigral dopaminergic neurons may degenerate still remain controversial. Hitherto, several data have shown that the earlier cellular disturbances occurring in dopaminergic neurons include oxidative stress, excitotoxicity, inflammation, mitochondrial dy…

Motor NeuronsParkinson's diseasePars compactaGeneral NeuroscienceModels NeurologicalDopaminergicNeurogenesisParkinson DiseaseSubstantia nigraBiologymedicine.diseaseNeuroprotectionReceptors DopamineAntiparkinson AgentsSubstantia Nigranervous systemDopaminemedicineAnimalsHumansPharmacology (medical)Neurology (clinical)NeuroscienceNeuroinflammationmedicine.drugExpert Review of Neurotherapeutics
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Electrophysiological brain stem investigations in idiopathic narcolepsy.

1998

Narcolepsy is associated with various rapid eye movement (REM) sleep abnormalities. Distinct brain stem areas seem to play a prominent role in REM sleep regulation. Recent magnetic resonance imaging (MRI) studies have led to conflicting findings concerning the presence of structural brain stem lesions in patients with idiopathic narcoleptic syndrome. However, multimodal electrophysiological brain stem investigations may reveal functional brain stem abnormalities even in the absence of MRI abnormality. Therefore we investigated brain stem function in 12 idiopathic narcoleptic patients by systematically studying tegmental brain stem pathways. All of the patients met the diagnostic criteria of…

Multiple Sleep Latency TestAdultMalemedicine.medical_specialtyNeurologySleep REMNeurological disorderPolysomnographymedicineEvoked Potentials Auditory Brain StemHumansCorneal reflexAgedNarcolepsySleep disordermedicine.diagnostic_testBlinkingMiddle Agedmedicine.diseaseElectrooculographyNeurologyFemaleNeurology (clinical)PsychologyNeuroscienceJaw jerk reflexNarcolepsyBrain StemJournal of neurology
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Extended causal modeling to assess Partial Directed Coherence in multiple time series with significant instantaneous interactions.

2010

The Partial Directed Coherence (PDC) and its generalized formulation (gPDC) are popular tools for investigating, in the frequency domain, the concept of Granger causality among multivariate (MV) time series. PDC and gPDC are formalized in terms of the coefficients of an MV autoregressive (MVAR) model which describes only the lagged effects among the time series and forsakes instantaneous effects. However, instantaneous effects are known to affect linear parametric modeling, and are likely to occur in experimental time series. In this study, we investigate the impact on the assessment of frequency domain causality of excluding instantaneous effects from the model underlying PDC evaluation. M…

Multivariate statisticsTime FactorsGeneral Computer ScienceModels NeurologicalPattern Recognition AutomatedCardiovascular Physiological PhenomenaElectrocardiographyGranger causalityArtificial IntelligenceEconometricsCoherence (signal processing)AnimalsHumansComputer SimulationEEGPartial Directed CoherenceMathematicsCausal modelMultivariate autoregressive modelComputer Science (all)Linear modelElectroencephalographySignal Processing Computer-AssistedCardiovascular variabilityAutoregressive modelFrequency domainParametric modelSettore ING-INF/06 - Bioingegneria Elettronica E InformaticaGranger causalityMultivariate time serieLinear ModelsNeural Networks ComputerBiotechnologyBiological cybernetics
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Adaptive independent vector analysis for multi-subject complex-valued fMRI data.

2017

Abstract Background Complex-valued fMRI data can provide additional insights beyond magnitude-only data. However, independent vector analysis (IVA), which has exhibited great potential for group analysis of magnitude-only fMRI data, has rarely been applied to complex-valued fMRI data. The main challenges in this application include the extremely noisy nature and large variability of the source component vector (SCV) distribution. New method To address these challenges, we propose an adaptive fixed-point IVA algorithm for analyzing multiple-subject complex-valued fMRI data. We exploited a multivariate generalized Gaussian distribution (MGGD)- based nonlinear function to match varying SCV dis…

Multivariate statisticscomplex-valued fMRI dataComputer scienceSpeech recognitionRestModels Neurological02 engineering and technologyMotor Activityta3112Shape parameterFingers03 medical and health sciencesMatrix (mathematics)0302 clinical medicine0202 electrical engineering electronic engineering information engineeringHumansComputer SimulationGeneralized normal distributionDefault mode networkta217ta113shape parametersubspace de-noisingBrain MappingLikelihood Functionsbusiness.industryGeneral NeuroscienceBrain020206 networking & telecommunicationsPattern recognitionMagnetic Resonance ImagingNonlinear systemNonlinear Dynamicsindependent vector analysis (IVA)MGGDMultivariate AnalysisAuditory PerceptionnoncircularityArtificial intelligenceNoise (video)businessArtifactspost-IVA phase de-noising030217 neurology & neurosurgerySubspace topologyAlgorithmsJournal of neuroscience methods
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MDMA Administration and Heat Shock Proteins Response: Foreseeing a Molecular Link

2010

Molecular and cellular mechanisms of MDMA-induced toxicity have been extensively studied in a number of experimental models. Nevertheless, only few studies investigated the involvement of HSPs ("molecular chaperones") in MDMA organs toxicity. In the present minireview we highlight this subject analysing the results of these studies conducted especially on brain tissue. Despite of it seems obvious that HSPs overexpression is a protective reaction against MDMA treatment, the molecular mechanisms for exerting their action are far to be undiscovered. At the same time, we need of comprehensive studies concerning the whole range of Hsps/chaperones expressions in all organs after acute and chronic…

N-Methyl-34-methylenedioxyamphetamineModels NeurologicalBrainPharmaceutical ScienceMDMABrain tissuePharmacologyBiologyHeat shock proteinmental disordersToxicityHallucinogensmedicineAnimalsHumans34-Methylenedioxy-N-methylamphetamine brain toxicity Hsp27 Hsp32 Hsp60 Hsp70.Heat-Shock ProteinsHeat-Shock Responsepsychological phenomena and processesBiotechnologymedicine.drugCurrent Pharmaceutical Biotechnology
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Dendritic Ih selectively blocks temporal summation of unsynchronized distal inputs in CA1 pyramidal neurons.

2004

The active dendritic conductances shape the input-output properties of many principal neurons in different brain regions, and the various ways in which they regulate neuronal excitability need to be investigated to better understand their functional consequences. Using a realistic model of a hippocampal CA1 pyramidal neuron, we show a major role for the hyperpolarization-activated current, I-h, in regulating the spike probability of a neuron when independent synaptic inputs are activated with different degrees of synchronization and at different distances from the soma. The results allowed us to make the experimentally testable prediction that the I-h in these neurons is needed to reduce ne…

N-MethylaspartateTime FactorsComputer scienceCognitive NeuroscienceModels NeurologicalNeural ConductionHippocampal formationSummationHippocampusSynaptic TransmissionCA1Cellular and Molecular NeurosciencemedicineExcitatory Amino Acid AgonistsAnimalsComputer Simulationalpha-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic AcidI-hProbabilityCa1 pyramidal neuronPyramidal CellsExcitatory Postsynaptic PotentialsReproducibility of ResultsmodelingDendritesSensory Systemsdendritic integrationmedicine.anatomical_structurenervous systemSomaNeuronNeuroscience
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Retro-nasal aroma release is correlated with variations in the in-mouth air cavity volume after empty deglutition.

2012

International audience; We hypothesized that interindividual differences in motor activities during chewing and/or swallowing were determining factors for the transfer of volatile aroma from the in-mouth air cavity (IMAC) toward the olfactory mucosa. In our first experiment, we looked for changes in IMAC volume after saliva deglutition in 12 healthy subjects. The mean IMAC volume was measured after empty deglutition using an acoustic pharyngometer device. Based on the time course of the IMAC volume after swallowing, we discerned two groups of subjects. The first group displayed a small, constant IMAC volume (2.26 mL ±0.62) that corresponded to a high tongue position. The second group displa…

Nasal cavityMaleModels AnatomicSalivaAnatomy and Physiology[ SDV.AEN ] Life Sciences [q-bio]/Food and NutritionSensory PhysiologyIngénierie des alimentsDentistrylcsh:Medicine0302 clinical medicinelcsh:ScienceMultidisciplinarybiologyChemistry04 agricultural and veterinary sciences040401 food scienceSensory SystemsSmellmedicine.anatomical_structureMotor SkillsCalibrationAlimentation et NutritionMedicineFemaleSensory PerceptionNasal CavityTabletsResearch ArticleAdultNostrilOral MedicineNoseModels BiologicalNeurological System03 medical and health sciences0404 agricultural biotechnologySwallowingTongueTonguemedicineHumansFood and NutritionFood engineeringMasticationBiologyAromaComputational NeuroscienceMouthOlfactory SystemChromatographybusiness.industrylcsh:RComputational Biology030206 dentistrybiology.organism_classificationDeglutitionGustatory SystemVolume (thermodynamics)DentistryOdorantsMasticationPharynxlcsh:Qbusiness[SDV.AEN]Life Sciences [q-bio]/Food and NutritionNeuroscience
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Gender differences in the neurotoxicity of metals in children

2013

Gender-related differences in susceptibility to chemical exposure to neurotoxicants have not received sufficient attention. Although a significant number of epidemiological studies on the neurodevelopmental effects of metal exposure has been published in the last twenty years, not many of them have considered the possible gender-specific effects of such exposure. This review is focused on studies where the gender differences in pre- and/or postnatal exposure/s to five metals (mercury, lead, manganese, cadmium, and arsenic) and neurodevelopment were evaluated. We conducted a PubMed search in December 2012 and retrieved 20 studies that met the inclusion criteria. A large body of literature on…

Nervous systemMalemedicine.medical_specialtyToxicologyToxicologyChemical exposureEnvironmental healthEpidemiologymedicineHumansChildChildrenClinical Trials as TopicSex Characteristicsbusiness.industryNeurotoxicityEnvironmental ExposureMERCURY EXPOSUREmedicine.diseaseMetalsHeavy metal poisoningSexFemaleNeurotoxicity SyndromesNervous System DiseasesbusinessNeurological disordersToxicology
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