Search results for "Past"

showing 10 items of 931 documents

Dry needling technique decreases spasticity and improves general functioning in incomplete spinal cord injury: A case report

2018

Context: Spasticity in neurological disorders (i.e. stroke patients and cerebral palsy) is positively improved by dry needling. However, reports are scarce regarding the potential effects of dry needling in reducing spasticity and improving functionality in patients with an incomplete spinal cord injury. The aim of this case report was to study the immediate, short-term effects of dry needling treatment (10 weeks) on spasticity, dynamic stability, walking velocity, self-independence, and pain in a single patient with an incomplete spinal cord injury. Findings: The dry needling treatment resulted in immediate, short-time effects on basal spasticity in the upper (reduction from 2 to 0 point m…

Male030506 rehabilitationmedicine.medical_specialtyStroke patientPainContext (language use)Case ReportsCerebral palsy03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationmedicineHumansSpasticitySpinal cord injuryGait Disorders NeurologicSpinal Cord InjuriesDry needlingbusiness.industryMiddle Agedmedicine.diseaseSpinal cordFunctional Statusmedicine.anatomical_structureMuscle SpasticityDry NeedlingNeurology (clinical)medicine.symptom0305 other medical sciencebusiness030217 neurology & neurosurgeryThe Journal of Spinal Cord Medicine
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Absence of Anti-Glomerular Basement Membrane Antibodies in 200 Patients With Systemic Lupus Erythematosus With or Without Lupus Nephritis: Results of…

2020

IntroductionAnti-glomerular basement membrane (GBM) antibodies are pathogenic antibodies first detected in renal-limited anti-GBM disease and in Goodpasture disease, the latter characterized by rapidly progressive crescentic glomerulonephritis combined with intra-alveolar hemorrhage. Studies have suggested that anti-GBM antibody positivity may be of interest in lupus nephritis (LN). Moreover, severe anti-GBM vasculitis cases in patients with systemic lupus erythematosus (SLE) have been described in the literature, but few studies have assessed the incidence of anti-GBM antibodies in SLE patients.ObjectiveThe main study objective was to determine if positive anti-GBM antibodies were present …

MaleAnti-Glomerular Basement Membrane Disease[SDV]Life Sciences [q-bio]Lupus nephritisAucunurologic and male genital diseasesSeverity of Illness IndexGastroenterologyanti-glomerular basement membrane antibodies0302 clinical medicinesystemic lupus erythematosusLupus Erythematosus SystemicImmunology and Allergy030212 general & internal medicineOriginal Researchmedicine.diagnostic_testbiologyanti-GBM glomerulonephritisGlomerular basement membraneIIfMiddle Aged3. Good healthTitermedicine.anatomical_structure[SDV.IMM]Life Sciences [q-bio]/ImmunologyFemaleAntibodyVasculitisAdultlcsh:Immunologic diseases. Allergymedicine.medical_specialtyImmunology03 medical and health sciencesAntigenInternal medicineanti-GBM antibodiesmedicineHumansAutoantibodiesRetrospective Studies030203 arthritis & rheumatologylupus nephritisbusiness.industryGoodpasture diseasemedicine.diseaseCase-Control StudiesImmunoassaybiology.proteinbusinesslcsh:RC581-607BiomarkersFrontiers in Immunology
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Error Detection and Response Adjustment in Youth With Mild Spastic Cerebral Palsy

2013

This study evaluated the brain activation state during error making in youth with mild spastic cerebral palsy and a peer control group while carrying out a stimulus recognition task. The key question was whether patients were detecting their own errors and subsequently improving their performance in a future trial. Findings indicated that error responses of the group with cerebral palsy were associated with weak motor preparation, as indexed by the amplitude of the late contingent negative variation. However, patients were detecting their errors as indexed by the amplitude of the response-locked negativity and thus improved their performance in a future trial. Findings suggest that the con…

MaleBrain activationSelf-Assessmentmedicine.medical_specialtyAdolescentevent-related brain potentialsContingent Negative VariationStimulus (physiology)Cerebral palsyExecutive FunctionSpastic cerebral palsyPhysical medicine and rehabilitationerror detectionReaction TimeSpasticmedicineHumansAttentionspasticChildta515Cerebral CortexLearning DisabilitiesCerebral PalsyElectroencephalographySignal Processing Computer-AssistedNegativity effectAwarenessmedicine.diseaseContingent negative variationMemory Short-TermPattern Recognition VisualPediatrics Perinatology and Child HealthPhysical therapyFemaleNeurology (clinical)PsychologyError detection and correctionJournal of Child Neurology
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A fronto-parietal network is mediating improvement of motor function related to repetitive peripheral magnetic stimulation: A PET-H2O15 study.

2006

Repetitive peripheral magnetic stimulation (RPMS) is a focused and painless stimulation method, in which muscle contractions are elicited by depolarization of the terminal motor branches. Clinical-experimental investigations on different disorders of sensorimotor integration in the last decade have shown that RPMS can be used for the rehabilitation of motor functions after stroke. It is supposed that this therapeutic effect is based on the RPMS-induced proprioceptive inflow to the CNS. To analyze the conditioning effects of RPMS on reorganization of the motor system on cortical level positron emission tomography (PET) is used. Regional cerebral blood flow (rCBF) has been measured using H(2)…

MaleCognitive NeurosciencePosterior parietal cortexStimulationBrain mappingPremotor cortexFingersMagneticsParietal LobeMotor systemImage Processing Computer-AssistedMedicineHumansSpasticityAgedBrain MappingMovement DisordersProprioceptionbusiness.industryMiddle AgedFrontal LobeParesismedicine.anatomical_structureNeurologyCerebral blood flowMotor SkillsCerebrovascular CirculationPositron-Emission TomographyFemalemedicine.symptombusinessNeuroscienceNeuroImage
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SPG10 is a rare cause of spastic paraplegia in European families.

2008

Contains fulltext : 71099.pdf (Publisher’s version ) (Closed access) BACKGROUND: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. OBJECTIVE: To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype. PATIENTS AND METHODS: 80 index patients from families with autosomal dominant HSP were investigated for SPG10 mutations by direct sequencing of the KIF5A motor domain. Additionally, the whole gene was sequenced in 20 of these families. RESULTS: Th…

MaleDNA Mutational AnalysisKinesinsHEREDITARYmedicine.disease_cause0302 clinical medicineSpasticPerception and Action [DCN 1]Missense mutationKIF5AAge of OnsetChildFrameshift MutationMUTATIONGenes DominantGeneticsNeurologic Examination0303 health sciencesMutationSplice site mutationSITEExonsMiddle AgedAnterograde axonal transport3. Good healthPedigreeEuropePsychiatry and Mental healthPhenotypeATAXIASChild PreschoolFemaleChromosome DeletionMOTORFunctional Neurogenomics [DCN 2]AdultNeuromuscular diseaseGenotypeHereditary spastic paraplegiaMutation Missense03 medical and health sciencesCognitive neurosciences [UMCN 3.2]medicineHumansGait Disorders Neurologic030304 developmental biologyChromosome Aberrationsbusiness.industrySpastic Paraplegia HereditarySequence Analysis DNAmedicine.diseaseGENEPeripheral neuropathyGenetics PopulationSurgeryNeurology (clinical)RNA Splice Sitesbusiness030217 neurology & neurosurgeryJournal of neurology, neurosurgery, and psychiatry
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Long-term efficacy of botulinum toxin A for treatment of blepharospasm,hemifacial spasm, and spastic entropion: a multicentre study using two drug-do…

2009

PURPOSE: To investigate the long-term effectiveness and safety of botulinum neurotoxin A (BoNT-A) treatment in patients with blepharospasm (BEB), hemifacial spasm (HFS), and entropion (EN) and to use for the first time two modified indexes, 'botulin toxin escalation index-U' (BEI-U) and 'botulin toxin escalation index percentage' (BEI-%), in the dose-escalation evaluation. METHODS: All patients in this multicentre study were followed for at least 10 years and main outcomes were clinical efficacy, duration of relief, BEI-U and BEI-%, and frequency of adverse events. RESULTS: BEB, HFS, and EN patients received a mean BoNT-A dose with a significant inter-group difference (P<0.0005, respectivel…

MaleEye diseaseEcchymosisBlepharospasmBlepharospasmBlepharospasm Hemifacial spasmPtosismedicineHumansHemifacial SpasmLongitudinal StudiesBotulinum Toxins Type AAdverse effectAgedDiplopiaAged 80 and overDose-Response Relationship Drugbusiness.industrySettore MED/30 - Malattie Apparato VisivoEntropionMiddle Agedmedicine.diseasebotulinum toxin A; Blepharospasm Hemifacial spasm; entropion; drug-dose escalation indexdrug-dose escalation indexEntropionOphthalmologyDrug CombinationsNeuromuscular AgentsMuscle SpasticityAnesthesiaFemalemedicine.symptombotulinum toxin AbusinessHemifacial spasmFollow-Up Studies
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Salt content impacts food preferences and intake among children

2012

This work was supported by a PhD grant from the Nutrition, Chemical Food Safety and Consumer Behavior Division of INRA (French National Institute for Agronomical Research, France) and the Regional Council of Burgundy (France) received by SB; and by a research grant (Gustolf) from Regional Council of Burgundy (France) received by SN. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.; Decreasing dietary sodium intake, which can be achieved by reducing salt content in food, is recommended. Salt contributes to the taste of foods and makes them more enjoyable. Whether a food is liked or disliked is an important determina…

MaleFood intakeTasteAnatomy and Physiology030309 nutrition & dieteticsHungerEating Disorders[ SDV.AEN ] Life Sciences [q-bio]/Food and NutritionDigestive Physiologylcsh:MedicineSocial and Behavioral SciencesEating0302 clinical medicineVegetablesMedicineHomeostasisPsychologyFood sciencelcsh:Science2. Zero hunger0303 health scienceschildMultidisciplinarybiologydigestive oral and skin physiologyDietary sodium intakeTaste PerceptionSensory SystemsAlimentation et NutritionMedicineFemaleSensory PerceptionAnalysis of varianceintakeResearch ArticleSalt content030209 endocrinology & metabolismCafeteriasalt content;food preference;intake;child;structural equation modelingstructural equation modeling03 medical and health sciencesFood PreferencesPsychophysicsFood and NutritionHumansObesitysalt contentSodium Chloride DietaryBiologyNutritionAnalysis of VarianceDigestive RegulationModels Statisticalbusiness.industryBody Weightlcsh:RFood acceptancebiology.organism_classificationPasta intakeGustatory Systemlcsh:Qfood preferencebusinessEdible GrainPhysiological ProcessesDigestive System[SDV.AEN]Life Sciences [q-bio]/Food and NutritionNeuroscience
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Compound heterozygosity in the SPG4 gene causes hereditary spastic paraplegia

2008

The SPG4 gene is frequently mutated in autosomal dominant form of hereditary spastic paraplegia (HSP). We report that the compound heterozygous sequence variants S44L, a known polymorphism, and c.1687G>A, a novel mutation in SPG4 cause a severe form of HSP in a patient. The family members carrying solely c.1687G>A mutation are asymptomatic for HSP. The reverse transcriptase-polymerase chain reaction (RT-PCR) analysis revealed that the c.1687G>A mutation is a splice site mutation and causes skipping of the exon 15 of spastin. Furthermore, quantification of RT-PCR products by sequencing and quantification of allele-specific expression by pyrosequencing assay revealed that c.1687G>A is a leaky…

MaleHeterozygoteSpastinHereditary spastic paraplegiaDNA Mutational AnalysisMolecular Sequence DataMutantIntracellular SpaceBiologyCompound heterozygositySpastinPolymorphism Single NucleotideWhite PeopleLoss of heterozygosity03 medical and health sciencesExon0302 clinical medicineGermanyGeneticsmedicineHumansRNA MessengerAllelesGenetics (clinical)030304 developmental biologyAdenosine TriphosphatasesRegulation of gene expressionGenetics0303 health sciencesSplice site mutationBase SequenceSpastic Paraplegia HereditaryComputational BiologyExonsmedicine.diseasePedigreeProtein TransportAmino Acid SubstitutionGene Expression RegulationMutationFemaleRNA Splice Sites030217 neurology & neurosurgeryHeLa CellsClinical Genetics
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A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy

2020

Abstract An increasing number of developmental and epileptic encephalopathies have been correlated with variants of ion channel genes, and in particular of potassium channels genes, such as KCNA1, KCNA2, KCNB1, KCNQ2, KCTD7 and KCNT1. Here we report a child with an early severe developmental and epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks. The whole exome sequencing showed the de novo heterozygous variant c.1411G > C (p.Val471Leu) in the KCNC2 gene. Although this is, to our knowledge, the first case of encephalopathy associated with a KCNC2 gene variant, and further confirmatory studies are needed, previous preclinical and clinical evidence seems to suggest that KCNC…

MaleKCNC2 geneKCTD7EncephalopathyBiologyEpilepsyGeneticsmedicineHumansExomeEEGChildGeneExomeSpastic tetraplegiaGenetics (clinical)Exome sequencingGeneticsEpilepsyKv3.2ElectroencephalographyDevelopmental and epileptic encephalopathieGeneral Medicinemedicine.diseaseKCNC2Shaw Potassium ChannelsNGSMutationEuropean Journal of Medical Genetics
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