Search results for " Mal"

showing 10 items of 5318 documents

Oligophrenin 1 mutations frequently cause X-linked mental retardation with cerebellar hypoplasia

2005

Background: Mutations of oligophrenin 1, one of the first genes identified in nonspecific X-linked mental retardation (MRX), have been described in patients with moderate to severe cognitive impairment and predominant cerebellar hypoplasia, in the vermis. Objective: To further delineate the phenotypic and mutational spectrum of the syndrome, by screening oligophrenin 1 in two cohorts of male patients with mental retardation (MR) with or without known posterior fossa anomalies. Methods: Clinical examination, cognitive testing, MRI studies, and mutational analysis (denaturing gradient gel electrophoresis and direct sequencing) on blood lymphocytes were performed in 213 unrelated affected indi…

AdultMaleCerebellumAdolescentGenotypeDNA Mutational AnalysisNonsense mutationNervous System Malformationsmedicine.disease_causeCohort StudiesExonCerebellar DiseasesCerebellummedicineHumansGenetic TestingChildCerebellar hypoplasiaGeneticsMutationSplice site mutationGTPase-Activating ProteinsNuclear Proteinsmedicine.diseaseMagnetic Resonance ImagingHypoplasiaPedigreeDevelopmental disorderAlternative SplicingCytoskeletal ProteinsPhenotypemedicine.anatomical_structureFacial AsymmetryCodon NonsenseChild PreschoolMutationMental Retardation X-LinkedRNA Splice SitesNeurology (clinical)PsychologyGene DeletionNeurology
researchProduct

Repetitive TMS of cerebellum interferes with millisecond time processing

2007

Time processing is important in several cognitive and motor functions, but it is still unclear how the human brain perceives time intervals of different durations. Processing of time in millisecond and second intervals may depend on different neural networks and there is now considerable evidence to suggest that these intervals are possibly measured by independent brain mechanisms. Using repetitive transcranial magnetic stimulation (rTMS), we determined that the cerebellum is essential in explicit temporal processing of millisecond time intervals. In the first experiment, subjects' performance in a time reproduction task of short (400-600 ms) and long (1,600-2,400 ms) intervals, were evalua…

AdultMaleCerebellumData InterpretationTime perception; Timing; Transcranial magnetic stimulation; rTMS; Cerebellummedicine.medical_treatmentPrefrontal CortexStimulationTime perception Timing Transcranial magnetic stimulation rTMS CerebellumMagnetic Resonance Imaging; Humans; Adult; Cerebellum; Time Perception; Data Interpretation Statistical; Prefrontal Cortex; Transcranial Magnetic Stimulation; Male; Functional Laterality; FemaleFunctional LateralityNOCerebellum; rTMS; Time perception; Timing; Transcranial magnetic stimulation;CerebellumrTMSmedicineHumansTimingPrefrontal cortexMillisecondNeuroscience (all)Settore M-PSI/02 - Psicobiologia E Psicologia Fisiologicamusculoskeletal neural and ocular physiologyGeneral NeuroscienceMemoriaHuman brainTime perceptionStatisticalMagnetic Resonance ImagingTranscranial Magnetic StimulationTranscranial magnetic stimulationmedicine.anatomical_structurenervous systemData Interpretation StatisticalTime PerceptionFemaleSettore MED/26 - NeurologiaPsychologyNeuroscienceHuman
researchProduct

Increased facilitation of the primary motor cortex following 1 Hz repetitive transcranial magnetic stimulation of the contralateral cerebellum in nor…

2005

Connections between the cerebellum and the contralateral motor cortex are dense and important, but their physiological significance is difficult to measure in humans. We have studied a group of 10 healthy subjects to test whether a modulation of the excitability of the left cerebellum can affect the excitability of the contralateral motor cortex. We used repetitive transcranial magnetic stimulation (rTMS) at 1 Hz frequency to transiently depress the excitability of the left cerebellar cortex and paired-pulse TMS testing of intracortical inhibition (ICI) and intracortical facilitation (ICF) to probe the excitability of cortico-cortical connections in the right motor cortex. The cortical sile…

AdultMaleCerebellumTMS Cerebellum Motor cortex Motor evoked potentialsmedicine.medical_treatmentbehavioral disciplines and activitiesSynaptic TransmissionMotor evoked potentialsFunctional LateralityNOCerebellar CortexPurkinje CellsCerebellum; Motor cortex; Motor evoked potentials; TMS;Reference ValuesCerebellumNeural PathwaysmedicineReaction TimeHumansEvoked PotentialsSettore M-PSI/02 - Psicobiologia E Psicologia Fisiologicamusculoskeletal neural and ocular physiologyGeneral NeuroscienceInterstimulus intervalMotor CortexNeural InhibitionEvoked Potentials MotorTranscranial Magnetic StimulationElectric StimulationTranscranial magnetic stimulationElectrophysiologyReference Values; Humans; Cerebellum; Neural Inhibition; Electric Stimulation; Cerebellar Cortex; Purkinje Cells; Motor Cortex; Evoked Potentials Motor; Adult; Neural Pathways; Transcranial Magnetic Stimulation; Synaptic Transmission; Female; Functional Laterality; Male; Reaction Time; Cerebellar Nucleimedicine.anatomical_structurenervous systemMotorCerebellar NucleiTMSCerebellar cortexSilent periodSettore MED/26 - NeurologiaFemalePrimary motor cortexPsychologyNeurosciencepsychological phenomena and processesMotor cortexNeuroscience letters
researchProduct

Overestimation of numerical distances in the left side of space

2004

Normal subjects presented with a middle number and two left- and right-sided outer numbers overestimate the numerical distance between the middle number and that positioned at its left side. Repetitive transcranial magnetic stimulation (rTMS) of the right posterior parietal cortex specifically counteracts this bias, suggesting that the mental representation of space defined by numbers is shifted toward the left side depending on a greater activity of the right hemisphere.

AdultMaleCerebralmedicine.medical_treatmentPosterior parietal cortexSpace (mathematics)Functional LateralityNOMagneticsReference ValuesParietal LobemedicineHumansRight hemisphereDominance CerebralDominanceMathematicsDistance PerceptionAnatomyTranscranial magnetic stimulationReference valuesRight posteriorSettore MED/26 - NeurologiaFemaleNeurology (clinical)Reference Values; Magnetics; Humans; Adult; Distance Perception; Dominance Cerebral; Parietal Lobe; Male; Functional Laterality; Female; MathematicsNeuroscienceMathematics
researchProduct

Effects of extra-fine inhaled beclomethasone/formoterol on both large and small airways in asthma

2010

BACKGROUND: Airway inflammation in asthma involves both large and small airways, and the combination of inhaled corticosteroids (ICS) and long acting beta-2 agonists (LABA) is the mainstay of therapy. Available inhaled combinations differ in terms of drug delivery to the lung and the ability to reach small airways. Aim: To evaluate whether treatment with an extra-fine inhaled combination provides additional effects vs a nonextra-fine combination on airway function. METHODS: After a 1- to 4-week run-in period, patients with asthma were randomized to a double blind, double dummy, 12-week treatment with either extra-fine beclomethasone/formoterol (BDP/F) 400/24 microg daily or fluticasone prop…

AdultMaleChemistry PharmaceuticalBeclomethasoneBronchiPilot ProjectsSettore MED/10 - Malattie Dell'Apparato RespiratorioAsthmaFluticasone-Salmeterol Drug CombinationRespiratory Function TestsAndrostadienesDrug CombinationsDouble-Blind MethodEthanolaminesForced Expiratory VolumeFormoterol FumarateAdministration InhalationHumansAsthma Therapy small airwaysAlbuterolFemaleAnti-Asthmatic AgentsMetered Dose InhalersBronchioles
researchProduct

Effect of desquamative gingivitis on periodontal status: a pilot study

2009

OBJECTIVE: Desquamative gingivitis (DG) represents the gingival manifestation associated with several mucocutaneous disorders and systemic conditions. Little is known of whether or not DG could influence the onset or progression of plaque-related periodontitis. In this study, the potential impact of DG on plaque-related attachment loss and pocket formation has been evaluated. METHODS: A cross-sectional evaluation of 12 patients with DG [eight oral lichen planus (OLP), four mucous membrane pemphigoid (MMP)], never treated for DG lesions or plaque-related periodontitis, was carried out. Probing depth (PD), clinical attachment loss (CAL), fullmouth plaque (FMPS), and bleeding (FMBS) scores wer…

AdultMaleChi-Square DistributionPemphigoid Benign Mucous MembraneDental PlaquePilot ProjectsMiddle AgedOral HygieneGingivitisStatistics Nonparametricoral lichen planuCross-Sectional StudiesSettore MED/28 - Malattie Odontostomatologichedesquamative gingivitimucous membrane pemphigoidPeriodontal Attachment Lossperiodontal statuOdds RatioHumansPeriodontal PocketFemaleAgedLichen Planus Oral
researchProduct

The Neural Correlates of Grammatical Gender: An fMRI Investigation

2002

Abstract In an fMRI experiment, subjects saw a written noun and made three distinct decisions in separate sessions: Is its grammatical gender masculine or feminine (grammatical feature task)? Is it an animal or an artifact (semantic task)? Does it contain a /tch/ or a /k/ sound (phonological task)? Relative to the other experimental conditions, the grammatical feature task activated areas of the left middle and inferior frontal gyrus and of the left middle and inferior temporal gyrus. These activations fit in well with neuropsychological studies that document the correlation between left frontal lesions and damage to morphological processes in agrammatism, and the correlation between left t…

AdultMaleCognitive NeuroscienceInferior frontal gyrusbehavioral disciplines and activitiesMental ProcessesPhoneticsInferior temporal gyrusAgrammatismNounmedicineHumansSpeechLanguageBrain MappingGrammatical genderVerbal BehaviorBrainPhonologyMagnetic Resonance ImagingSemanticsFrontal lobeLateralityAdult; Brain; Brain Mapping; Female; Humans; Magnetic Resonance Imaging; Male; Mental Processes; Phonetics; Semantics; Speech; Verbal Behavior; Language; SexPhoneticMental ProcesseFemaleSexmedicine.symptomPsychologySemanticHumanCognitive psychologyJournal of Cognitive Neuroscience
researchProduct

Use of autobilevel ventilation in patients with obstructive sleep apnea: An observational study.

2017

Continuous positive airway pressure (CPAP) is the first-choice treatment for obstructive sleep-disordered breathing. Automatic bilevel ventilation can be used to treat obstructive sleep-disordered breathing when CPAP is ineffective, but clinical experience is still limited. To assess the outcome of titration with CPAP and automatic bilevel ventilation, the charts of 356 outpatients (obstructive sleep apnea, n = 242; chronic obstructive pulmonary disease + obstructive sleep apnea overlap, n = 80; obesity hypoventilation syndrome [OHS], n = 34; 103 females) treated for obstructive sleep-disordered breathing from January 2014 to April 2017 were reviewed. Positive airway pressure titration was …

AdultMaleCognitive Neurosciencemedicine.medical_treatmentAmbulatory managementRespiratory failureSettore MED/10 - Malattie Dell'Apparato RespiratorioBody Mass Index03 medical and health sciencesBehavioral Neuroscience0302 clinical medicinePositive airway pressuremedicineNon-invasive ventilationHumansContinuous positive airway pressureAgedRetrospective StudiesObesity hypoventilation syndromeSleep Apnea ObstructiveContinuous Positive Airway Pressurebusiness.industryGeneral MedicineMiddle Agedmedicine.diseaseRespiration ArtificialConfidence intervalrespiratory tract diseasesObstructive sleep apnea030228 respiratory systemRespiratory failureAnesthesiaNon-invasive ventilationBreathingPatient ComplianceFemalebusiness030217 neurology & neurosurgeryFollow-Up StudiesJournal of sleep research
researchProduct

The influence of rTMS over prefrontal and motor areas in a morphological task: grammatical vs. semantic effects

2008

We investigated the differential role of two frontal regions in the processing of grammatical and semantic knowledge. Given the documented specificity of the prefrontal cortex for the grammatical class of verbs, and of the primary motor cortex for the semantic class of action words, we sought to investigate whether the prefrontal cortex is also sensitive to semantic effects, and whether the motor cortex is also sensitive to grammatical class effects. We used repetitive transcranial magnetic stimulation (rTMS) to suppress the excitability of a portion of left prefontal cortex (first experiment) and of the motor area (second experiment). In the first experiment we found that rTMS applied to t…

AdultMaleCognitive Neurosciencemedicine.medical_treatmentPosterior parietal cortexPrefrontal CortexExperimental and Cognitive PsychologyVocabularyNOBehavioral NeuroscienceReference ValuesCortex (anatomy)medicineReaction TimeSemantic memoryHumansReference ValueTranscranial Magnetic Stimulation; Language; Motor cortex; Prefrontal cortex; Action; Nouns; Verbs; Semantics; TMSPrefrontal cortexLanguageSettore M-PSI/02 - Psicobiologia E Psicologia FisiologicaMotor CortexClassificationTranscranial Magnetic StimulationSemanticsTranscranial magnetic stimulationVerbNeuropsychology and Physiological PsychologyVerbsmedicine.anatomical_structureNounActionTMSFemaleSettore MED/26 - NeurologiaPrimary motor cortexMotor Cortex; Reference Values; Classification; Humans; Adult; Vocabulary; Prefrontal Cortex; Transcranial Magnetic Stimulation; Male; Female; Reaction Time; SemanticsConsumer neurosciencePsychologySemanticNounsHumanCognitive psychologyMotor cortex
researchProduct

The what and how of observational learning

2007

Abstract Neuroimaging evidence increasingly supports the hypothesis that the same neural structures subserve the execution, imagination, and observation of actions. We used repetitive transcranial magnetic stimulation (rTMS) to investigate the specific roles of cerebellum and dorsolateral prefrontal cortex (DLPFC) in observational learning of a visuomotor task. Subjects observed an actor detecting a hidden sequence in a matrix and then performed the task detecting either the previously observed sequence or a new one. rTMS applied over the cerebellum before the observational training interfered with performance of the new sequence, whereas rTMS applied over the DLPFC interfered with performa…

AdultMaleCognitive Neurosciencemedicine.medical_treatmentrTMS cerebellum DLPFCPrefrontal CortexExperimental and Cognitive PsychologyCognitive neurosciencecerebellum; frontal cortex; observational learning; tmsbehavioral disciplines and activitiesTask (project management)NOBehavioral NeuroscienceMental ProcessesNeuroimagingtmsReference ValuesCerebellummental disordersmedicineBiological neural networkHumansObservational learningReference Values; Analysis of Variance; Humans; Cerebellum; Neural Inhibition; Prefrontal Cortex; Motor Skills; Imitative Behavior; Problem Solving; Social Perception; Imagination; Mental Processes; Adult; Transcranial Magnetic Stimulation; Female; MaleProblem SolvingAnalysis of VarianceSettore M-PSI/02 - Psicobiologia E Psicologia Fisiologicafrontal cortexNeural InhibitionCognitionImitative BehaviorTranscranial Magnetic StimulationDorsolateral prefrontal cortexTranscranial magnetic stimulationobservational learningmedicine.anatomical_structureSocial Perceptionnervous systemMotor SkillsImaginationSettore MED/26 - NeurologiaFemalePsychologyNeurosciencepsychological phenomena and processesCognitive psychology
researchProduct