Search results for "HALO"

showing 10 items of 2623 documents

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

2017

Background Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach (OMIM#613076). Next generation sequencing recently confirmed this association by the finding of compound heterozygous variants in 19-year-old girl with a strikingly similar phenotype, but this ultra-rare entity remains however unknown from most of the scientific community. Materials and methods Whole exome sequencing was performed as part of a "diagnostic odyssey" for suspected mitochon…

AdultMale0301 basic medicineHeterozygoteCandidate geneAdolescentdata sharingMitochondrial diseaseCompound heterozygosityBioinformaticsYoung Adult03 medical and health sciencesMitochondrial myopathyMitochondrial EncephalomyopathiesExome SequencingGeneticsHumansMedicineGenetic Predisposition to DiseaseOxidoreductases Acting on Sulfur Group Donorswhole-exome sequencingChildExomeCytochrome ReductasesGenetics (clinical)Exome sequencing[SDV.GEN]Life Sciences [q-bio]/Geneticsbusiness.industryGFERDisease gene identificationmedicine.diseasePedigree3. Good health030104 developmental biologymitochondrial conditionMutationCongenital cataractsFemale[ SDV.GEN ] Life Sciences [q-bio]/GeneticsbusinessClinical Genetics
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Breakdown of Thalamo-Cortical Connectivity Precedes Spike Generation in Focal Epilepsies

2017

Electroencephalography (EEG) spikes and focal epileptic seizures are generated in circumscribed cerebral networks that have been insufficiently described. For precise time and spatial domain network characterization, we applied in patients with focal epilepsy dense array 256-channel EEG recordings with causal connectivity estimation by using time-resolved partial directed coherence and 3T-magnetic resonance imaging-derived cortical and thalamus integrity reconstruction. Before spike generation, significant theta and alpha bands driven information flows alterations were noted from both temporal and frontal lobes to the thalamus and from the thalamus to the frontal lobe. Medial dorsal and ven…

AdultMale0301 basic medicineThalamusAction PotentialsElectroencephalographySensitivity and Specificity03 medical and health sciencesEpilepsy0302 clinical medicineThalamusBiological ClocksNeural PathwaysConnectomemedicineHumansIn patientFocal EpilepsiesCerebral CortexDense arraymedicine.diagnostic_testGeneral NeuroscienceReproducibility of ResultsElectroencephalographymedicine.disease030104 developmental biologyThalamo corticalFrontal lobeFemaleEpilepsies PartialNerve NetPsychologyNeuroscience030217 neurology & neurosurgeryBrain Connectivity
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Reductions in circulating endocannabinoid 2-arachidonoylglycerol levels in healthy human subjects exposed to chronic stressors

2016

Increasing evidence indicates that chronic stress, such as social isolation, plays an important role in the development of a variety of psychiatric and somatic disorders. Meanwhile, chronic stress imposed by prolonged isolation and confinement in the spacecraft is also one of the major concerns for the health of future interplanetary space travelers. Preclinical studies suggest that the peripheral endocannabinoid (eCB) system is involved in the regulation of the stress response and eCB signaling is implicated in the pathogenesis of stress-related diseases. However, there are only few human studies addressing this topic, of which most focusing on patients who have already developed a certain…

AdultMale0301 basic medicinemedicine.medical_specialty2-ArachidonoylglycerolArachidonic AcidsGlyceridesPathogenesis03 medical and health scienceschemistry.chemical_compoundCatecholamines0302 clinical medicineTandem Mass SpectrometrymedicineHumansChronic stressSocial isolationPsychiatryChromatography High Pressure LiquidBiological PsychiatryPsychiatric Status Rating ScalesPharmacologyStressorBrainElectroencephalographyAnandamideEndocannabinoid systemHealthy Volunteers030104 developmental biologychemistryLinear ModelsCatecholamineFemalemedicine.symptomPsychologyNeuroscienceStress Psychological030217 neurology & neurosurgeryEndocannabinoidsmedicine.drugProgress in Neuro-Psychopharmacology and Biological Psychiatry
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Motor Action Execution in Reaction-Time Movements

2019

OBJECTIVE Reaction-time movements are internally planned in the brain. Presumably, proactive control in reaction-time movements appears as an inhibitory phase preceding movement execution. We identified the brain activity of reaction-time movements in close proximity to movement onset and compared it with similar self-paced voluntary movements without external command. DESIGN We recorded 18 healthy participants performing reaction-time and self-paced fast index finger abductions with 306-sensor magnetoencephalography and electromyography. Reaction-time movements were performed as responses to cutaneous electrical stimulation delivered on the hand radial nerve area. Motor field and movement-…

AdultMale030506 rehabilitationBrain activity and meditationMovementPhysical Therapy Sports Therapy and RehabilitationSensory systemStimulationElectromyography03 medical and health sciences0302 clinical medicineReaction TimemedicineHumansmedicine.diagnostic_testMovement (music)business.industryRehabilitationMotor CortexMagnetoencephalographySomatosensory CortexMagnetoencephalographyIndex fingermedicine.anatomical_structureFemalePrimary motor cortex0305 other medical sciencebusinessNeuroscience030217 neurology & neurosurgeryAmerican Journal of Physical Medicine & Rehabilitation
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Cephalometric measurements from 3D reconstructed images compared with conventional 2D images

2011

Abstract Objective: To assess whether the values of different measurements taken on three-dimensional (3D) reconstructions from cone-beam computed tomography (CBCT) are comparable with those taken on two-dimensional (2D) images from conventional lateral cephalometric radiographs (LCRs) and to examine if there are differences between the different types of CBCT software when taking those measurements. Material and Methods: Eight patients were selected who had both an LRC and a CBCT. The 3D reconstructions of each patient in the CBCT were evaluated using two different software packages, NemoCeph 3D and InVivo5. An observer took 10 angular and 3 linear measurements on each of the three types o…

AdultMale2d imagesAdolescentCephalometryRadiographyDentistryOrthodonticsComputed tomographyImage processingMandibleYoung AdultImaging Three-DimensionalImage Processing Computer-AssistedMaxillamedicineHumansNasal BoneSella TurcicaChildMathematicsObserver VariationOrthodonticsmedicine.diagnostic_testPalatebusiness.industryIntraobserver reliabilityReproducibility of ResultsOriginal ArticlesCone-Beam Computed TomographyIncisorFaceMandibular planeFemalebusinessObserver variationSoftwareThe Angle Orthodontist
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Habituation and laterality of orienting processes as reflected by slow negative waves

2000

The study is concerned with the question of whether the orienting wave (O-wave), a slow potential shift of the event-related brain potential, is a component of the orienting response (OR). As habituation is supposed to be the most important characteristic of the OR, we focussed particularly on any habituating aspect of the O-wave. Results suggest that its bilateral distribution over midfrontal areas might constitute such a link relating the O-wave to orienting activity. Hemispheric asymmetry linearly decreased its right-sided predominance in response to repeated presentations of an initially novel auditory stimulus. A similar, concomitant diminution of the skin conductance response (SCR) oc…

AdultMaleAdolescentCentral nervous systemStimulus (physiology)Functional LateralityOrienting responsemedicineHumansHabituationEvoked potentialHabituation PsychophysiologicElectrodesEvoked PotentialsGeneral NeuroscienceBrainElectroencephalographyGalvanic Skin ResponseElectrophysiologyNeuropsychology and Physiological Psychologymedicine.anatomical_structureLateralityLocus coeruleusLocus CoeruleusPsychologyNeuroscienceBiological Psychology
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Gonial angle growth patterns according to age and gender

2017

Currently there are controversial results about gender and age differences in human gonial angle values. In this context we aimed to ascertain the gender and age differences in the gonial angle values of young Caucasian Mediterranean subjects. We tested the hypothesis of a relation between the gonial angle values and the gender and age of the subjects by means of a prospective study involving 266 subjects. Panoramic radiographs (Cranex Novus®, XMIND Novus® Soredex, France) were carried out in order to measure the gonial angle values. We found significant differences between females and males in the subgroups aged ≤10years old (128.6±3.4 vs 126.8±4.5, p=0.017), 16-20 years old (119.1±5.6 vs …

AdultMaleAdolescentCephalometryContext (language use)MandibleSignificant negative correlationWhite PeopleAge and genderYoung Adult03 medical and health sciencesSex Factors0302 clinical medicineRadiography PanoramicHumansMedicineGonial angleProspective Studies030216 legal & forensic medicineChildProspective cohort studybusiness.industryAge Factors030206 dentistryGeneral MedicineQuantitative anatomyChild PreschoolFemaleAnatomybusinessDevelopmental BiologyDemographyAnnals of Anatomy - Anatomischer Anzeiger
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A method of measuring the apical base

1996

SUMMARY The maxillary and mandibular apical base areas were measured, using a gnathograph, on the study casts of 156 adults and children representing Class II division 1, Class II division 2 and Class III malocclusions. There were significant differences between the groups at each age. The maxillary apical base areas tended to be smaller for the adults than for the children in all three occlusal classes. By contrast, the mandibular apical base areas tended to be larger for the adults than for the children, except in Class II division 1 malocclusion. Following a logarithmic transformation to stabilize the variance, regression lines were fitted to relate the size of the maxillary and mandibul…

AdultMaleAdolescentCephalometryDentistryOrthodonticsMandibleClass iiiMalocclusion Angle Class IIBiologyDental ArchTooth ApexAlveolar ProcessMaxillamedicineHumansClass II division 1 malocclusionChildBase (exponentiation)Analysis of Variancebusiness.industryAge FactorsMandiblemedicine.diseaseModels DentalMalocclusion Angle Class IIIMaxillaLinear ModelsRegression AnalysisFemaleMalocclusionbusinessThe European Journal of Orthodontics
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Reliability and validity of the Digigraph 100 in orthodontic diagnosis.

2001

Cephalometric analyses of lateral cephalograms allow important statements to be made on diagnosis and treatment planning. Such radiographs should, however, be taken with a considerable reduction in radiation exposure. With the Digigraph 100 (Dolphin Imaging Systems Inc., USA) a cephalometric technique based on distance measurements of emitted sonic signals is now available. This study was aimed at determining the degree to which this procedure can cope with the requirements of reliability and validity in the field of orthodontics. For this purpose 50 volunteers were examined by conventional cephalometry with manual tracing of lateral cephalograms as well as by sonic cephalometry, with Jarab…

AdultMaleAdolescentCephalometryRadiographyVideo RecordingDentistryImage processingOrthodonticsRadiation ProtectionSex FactorsImage Processing Computer-AssistedMedicineHumansStatistical analysisRadiation treatment planningReliability (statistics)UltrasonographyOrthodonticsbusiness.industryLateral cephalogramsSkullAge FactorsCraniometryRadiation exposureRadiographyData Interpretation StatisticalFemaleOral SurgerybusinessAlgorithmsSoftwareJournal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie
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Event-Related Potentials and Autonomic Responses to a Change in Unattended Auditory Stimuli

1992

Event-related brain potentials (ERPs) and autonomic nervous system (ANS) responses to occasional pitch and rise-time changes in a task-irrelevant auditory stimulus repeating at short intervals were measured while the subject performed a difficult intellectual task (Raven Matrices). It was found that deviant stimuli elicited the mismatch negativity (MMN) component of the ERP even when they elicited no ANS response. There was no significant difference in the mismatch negativity between trials in which the skin conductance response was or was not elicited. The pitch deviant tone also elicited heart rate deceleration, whereas the rise-time deviant tone tended to elicit a later heart rate accele…

AdultMaleAdolescentCognitive NeuroscienceMismatch negativityExperimental and Cognitive PsychologyStimulus (physiology)Autonomic Nervous Systembehavioral disciplines and activities050105 experimental psychologyPitch DiscriminationOrienting response03 medical and health sciences0302 clinical medicineDevelopmental NeuroscienceEvent-related potentialHeart rateHumansAttention0501 psychology and cognitive sciencesEvoked potentialProblem SolvingBiological PsychiatryCerebral CortexEndocrine and Autonomic SystemsGeneral Neuroscience05 social sciencesElectroencephalographyAutonomic nervous systemElectrophysiologyNeuropsychology and Physiological PsychologyNeurologyEvoked Potentials AuditoryFemaleArousalPsychologyNeuroscience030217 neurology & neurosurgeryPsychophysiology
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