Search results for "Genou"

showing 10 items of 610 documents

Cognitive Deficits and Associated ERP N400 Abnormalities in FXTAS With Parkinsonism

2018

Objective: To examine cognitive deficits and associated brain activity in fragile X-associated tremor/ataxia syndrome (FXTAS) patients with parkinsonism (FXTp+), in relation to FXTAS patients without parkinsonism (FXTp-), and normal elderly controls (NC). Methods: Retrospective reviews were performed in 65 FXTAS patients who participated in the event-related brain potential (ERP) study and also had either a videotaped neurological examination or a neurological examination for extrapyramidal signs. Parkinsonism was defined as having bradykinesia with at least one of the following: rest tremor, postural instability, hypermyotonia, or rigidity. Eleven FXTp+ patients were identified and compare…

cognition0301 basic medicineAgingmedicine.medical_specialtyAtaxialcsh:QH426-470Clinical SciencesNeurodegenerativeAudiologysemantic processingVerbal learningBasic Behavioral and Social Science03 medical and health sciencesRare Diseasesevent-related potential0302 clinical medicineClinical ResearchBehavioral and Social ScienceGeneticsmedicine2.1 Biological and endogenous factorsAetiologyLate positive componentparkinsonismGenetics (clinical)Original ResearchParkinson's DiseaseCalifornia Verbal Learning Testbusiness.industryParkinsonismNeurosciencesevent-related potential (ERP)medicine.diseaseFMR1Brain Disorderslcsh:Genetics030104 developmental biologyNeurologicalMolecular MedicineMental healthmedicine.symptomVerbal memorybusinessFMR1 premutationLaw030217 neurology & neurosurgeryExecutive dysfunctionFrontiers in Genetics
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Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments.

2022

AbstractBackgroundA recent genome-wide association study (GWAS) identified 12 independent loci significantly associated with attention-deficit/hyperactivity disorder (ADHD). Polygenic risk scores (PRS), derived from the GWAS, can be used to assess genetic overlap between ADHD and other traits. Using ADHD samples from several international sites, we derived PRS for ADHD from the recent GWAS to test whether genetic variants that contribute to ADHD also influence two cognitive functions that show strong association with ADHD: attention regulation and response inhibition, captured by reaction time variability (RTV) and commission errors (CE).MethodsThe discovery GWAS included 19 099 ADHD cases …

cognitionTrastorns per dèficit d'atenció amb hiperactivitat en els infantsMedizinSocial SciencesGenome-wide association studyAttention deficit disorder with hyperactivity in children3202 Applied Psychology2738 Psychiatry and Mental Health0302 clinical medicineAtencióDUPLICATIONS2.1 Biological and endogenous factorsPsychologyAetiologyGenetic riskChildPOPULATIONApplied PsychologyResponse inhibitionPsychiatryREACTION-TIME VARIABILITYCognition10058 Department of Child and Adolescent PsychiatryinhibitionPsychiatry and Mental healthPhenotypeMental Healthpolygenic risk scoresreaction time variabilityCognicióPublic Health and Health Services/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingTrastorns per dèficit d'atenció amb hiperactivitat en els adultsRESPONSE-INHIBITIONClinical psychologyAdultAdolescentDEFICIT HYPERACTIVITY DISORDER610 Medicine & healthGENETIC RISKbehavioral disciplines and activitiesYoung Adult03 medical and health sciencesWORKING-MEMORYSDG 3 - Good Health and Well-beingmental disordersReaction TimeGeneticsmedicineHumansAttention deficit hyperactivity disorderADHDCognitive DysfunctionGENOME-WIDE ASSOCIATIONAssociation (psychology)business.industryPreventionHuman GenomeNeurosciencesGenetic variantsPERFORMANCEmedicine.diseaseAttention Deficit Hyperactivity Disorder (ADHD)030227 psychiatryattentionAttention Deficit Disorder with HyperactivityInhibicióCase-Control StudiesAttention deficit disorder with hyperactivity in adultsPolygenic risk scorebusiness030217 neurology & neurosurgeryGenome-Wide Association StudyPsychological medicine
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Uso della moneta presso gli Indigeni della Sicilia centro-meridionale

2011

The study of the coins found in the indigenous settlements of Caltanissetta province and the analysis of the related contexts of provenance, have highlighted that in these centers, still in the 4th century BC, the coin was considered a worthless piece of metal and that other bronze objects were used as medium of exchange. It is remarkable the discovery in this territory of three “mixed” hoards, including not only coins, but also of bronze scraps and small fragmentary objects. In this regard, the presence in this area of the so-called "monetary barbarizations" is interesting. They are rare specimens whose stylistic aspect, typological association, technical and, sometimes, even weight elemen…

coins indigenous settelements Caltanissetta mixed hoards barbarizationsSettore L-ANT/04 - Numismatica
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A ceRNA analysis on LMNA gene focusing on the Hutchinson-Gilford progeria syndrome

2013

Background: Hutchinson-Gilford progeria syndrome is a rare dominant human disease of genetic origin. The average life expectancy is about 20 years, patients’ life quality is still very poor and no efficient therapy has yet been developed. It is caused by mutation of the LMNA gene, which results in accumulation in the nuclear membrane of a particular splicing form of Lamin-A called progerin. The mechanism by which progerin perturbs cellular homeostasis and leads to the symptoms is still under debate. Micro-RNAs are able to negatively regulate transcription by coupling with the 3’ UnTranslated Region of messenger RNAs. Several Micro-RNAs recognize the same 3’ UnTranslated Region and each Micr…

congenital hereditary and neonatal diseases and abnormalitiesCandidate geneCeRNA Hutchinson-Gilford Progeria LMNA Lamin-A 3’ UTR MiRNALMNACellular homeostasisHealth InformaticsLamin-ABiologySettore MED/13 - EndocrinologiaLMNAProgeriaCeRNAmedicineHutchinson-GilfordGeneticsProgeriaintegumentary systemCompeting endogenous RNAThree prime untranslated regionResearchnutritional and metabolic diseasesmedicine.diseaseProgerinSettore BIO/18 - GeneticaRNA splicing3’ UTRMiRNAJournal of Clinical Bioinformatics
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Transmission processes of indigenous Pedi music

2017

There has been unsatisfactory integration of traditional music into education, despite the fact that the Ministry of Education advocates its use, stating that education should ‘preserve South Africa’s cultural practice; develop an appreciation for the practice of one’s culture; and develop a sense of respect for other people’s culture’. South Africa is in need of a music education philosophy that is culturally embedded, cognisant of the societal context in which it is to function, and informed by South African ideas and philosophy of life. This study entails sourcing the Ethnomusicological and Anthropological focus in musicology for purposes of providing a better understanding on music and …

cultural identitymusiikkikasvatustraditiooppiminenmusiikkiLimpopoperinnemusiikkiMusical ArtSouth Africapedi-kulttuuriindigenous musicSekhukhuneinformal learningPedi culturetransmissionmusiikkikulttuurimusic and identityopetuskulttuuriperintöinformaali oppiminenenculturationsosialisaatioalkuperäiskansatuskonnollinen musiikkiEtelä-Afrikkakulttuuri-identiteetti
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Descent among the Wayú. Concepts and social meanings

2008

Descent among the Wayú. Concepts and social meanings. Taking the contemporary rethinking of the descent notion in Lowland South American ethnography as a starting point, the article provides an analysis of matrilineal descent among the Wayú. Using new ethnographical data, special attention is paid to indigenous concepts and to the way matrilineal descent articulates with other principles of social classification. By virtue of the role that matrilineal descent plays in defining territoriality and in feuds, the Wayú offer a very interesting case for rethinking the theoretical and comparative debate about the indigenous societies of Lowland South America and for reflecting on the complexity of…

descendenciaparentescoCultural Studiesdescendancediscendenza parentela popolazioni indigene sudamericane wayùVirtueAnthropologymedia_common.quotation_subjectTerritorialitydescentGenealogyIndigenousAnthropologySouth americanEthnographySettore M-DEA/01 - Discipline DemoetnoantropologicheSociologyparentékinshipmedia_commonDescent (mathematics)Journal de la société des américanistes
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CoproID predicts the source of coprolites and paleofeces using microbiome composition and host DNA content

2020

Shotgun metagenomics applied to archaeological feces (paleofeces) can bring new insights into the composition and functions of human and animal gut microbiota from the past. However, paleofeces often undergo physical distortions in archaeological sediments, making their source species difficult to identify on the basis of fecal morphology or microscopic features alone. Here we present a reproducible and scalable pipeline using both host and microbial DNA to infer the host source of fecal material. We apply this pipeline to newly sequenced archaeological specimens and show that we are able to distinguish morphologically similar human and canine paleofeces, as well as non-fecal sediments, fro…

dogsArcheologyMicrobial DNAData Mining and Machine LearningCoprolitemicrobiomeendogenous DNAlcsh:MedicineMorphology (biology)Genomechemistry.chemical_compoundPaleofecesDog0601 history and archaeologyGutArqueologia Metodologia0303 health sciences060102 archaeologyGeneral NeuroscienceGeneral Medicine06 humanities and the artsGenomicsNextflowmachine learningnextflowgutGeneral Agricultural and Biological SciencesShotgun metagenomicsPaleofecesHumanpaleofecesBioinformaticsBiologyMicrobiologyGeneral Biochemistry Genetics and Molecular Biologydiversity03 medical and health sciencesEndogenous DNAMachine learningcoprolitedog molecular analysishumanMicrobiomeancient DNAgenome030304 developmental biology030306 microbiologyHost (biology)lcsh:RcultureAncient DNAarcheologychemistryEvolutionary biologyAnthropologyCoproliteMicrobiomedietDNAPeerJ
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Review of studies of polymorphic blood systems in the Aymara indigenous population from Bolivia, Peru, and Chile.

1995

A review was made of all studies available from the literature referring to polymorphic blood systems of South American Aymara Indians. 33 original papers published up to 1990 covering a period of 45 years were summarized. Aymara samples were considered from a total of 55 localities in Bolivia, Peru, and Chile. Gene frequencies were tabulated for 21 polymorphic genetic systems comprising blood groups (AB0, MNSs, P, Rh, Lu, K, Le, Fy, Jk, Di), erythrocyte enzyme groups (AcP, 6PGD, PGM1, AK, ADA, EsD), and plasma protein groups (Hp, Tf, Gc, Gm, Km). Weighted average and range over all Aymara samples were computed for each blood system and compared with corresponding mean value and range in So…

education.field_of_studyBoliviaPolymorphism GeneticRange (biology)Indians South AmericanMean valuePopulationGenetic systemsGeneral MedicineIndigenousGeographyGenetics PopulationAnthropologySouth americanPeruBlood Group AntigensEthnologyHumansAnimal Science and ZoologyChileSouth American IndianeducationAllele frequencyEcology Evolution Behavior and SystematicsDemographyAnthropologischer Anzeiger; Bericht uber die biologisch-anthropologische Literatur
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Translationsstrategien in Texten der Evangelisierung und der indigenen Rechtsprechung in Neu-Spanien

2021

ZusammenfassungThis paper sets out to reconstruct concepts of translation between Spanish and indigenous languages that were prevalent in religious as well as notarial contexts in colonial Mexico (more specifically in a district within the state of Oaxaca) between the sixteenth and eighteenth centuries. To this end, we analyse Christian doctrinal texts translated from Spanish into the Zapotec language by Dominican friars in order to propagate the Christian faith, as well as notarial texts in the form of testaments written in Zapotec by the indigenous population and translated into Spanish in order to be submitted as evidence in court. We pay particular attention to the use and translation o…

education.field_of_studyHistorymedia_common.quotation_subjectPopulationSubject (philosophy)Context (language use)ColonialismIndigenousState (polity)Text typeseducationClassicsOrder (virtue)media_common
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Invasive Alien Species and Their Effects on Marine Animal Forests

2020

Nonindigenous species are increasingly transported around the world through multiple pathways by a diversity of vectors. Invasive species are a subset of those that are introduced into the receptor community, where they establish and increase their population to a size where they impact the native system. Marine invasive species can therefore interact with and modify native animal forests and/or create novel ones resulting in simple-to-complex changes in material cycling, energy flow, ecosystem structure, and function. Despite the ever increasing number of studies dealing with marine invasive species, mostly biological invasions are mentioned generically as one of a number of threats of dir…

education.field_of_studyTubastraea spp.Invasiveved/biologyEcologyved/biology.organism_classification_rank.speciesPopulationOculina patagonicaVectorsNonindigenousMarine speciesInvasive speciesEcosystem engineerEcosystem structureGeographyMytilus galloprovincialisCarijoa riiseiEcosystem engineerTaxonomic rankCarijoa riiseiAlien specieseducationPathwaysReproduction strategies
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