Search results for "Case"

showing 10 items of 3855 documents

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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Association between diabetes and stroke subtype on survival and functional outcome 3 months after stroke: data from the European BIOMED Stroke Projec…

2004

comorbidityclassificationdisabilitydiabetes mellitucase control studycerebrovascular accident
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Supplementary material 1 from: Geneletti D, Adem Esmail B, Cortinovis C, Arany I, Balzan M, van Beukering P, Bicking S, Borges PA, Borisova B, Broekx…

2020

An overview of the assessment of ecosystem condition in the selected case studies.

comparative analysistechnology industry and agricultureEU Biodiversity Strategyecosystem servicesMAEScase studiesbiodiversity
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Managing Municipal Solid Waste: Energetic and Environmetal Comparison among different options

2001

Goal. This research aims to assess the environmental effects of integrated strategies in a municipal waste management system. In particular, analysis is focused on a waste stream in Palermo, where landfill involves the prompt disposal of the most waste after collection. The current local management system is compared with two integrated waste management alternatives. Both the options comply with Italian regulations, but each one predicts adopting the available technologies in different ways. Methods and objectives. Energetic and environmental balances are carried out in each management system referring to local waste composition in order to quantify energy consumption, the recovery of mater…

compostSettore ING-IND/11 - Fisica Tecnica AmbientaleKeywords: Case studieenergy recoveryintegrated management systemLife Cycle Assessmentnet energy consumptionmaterial recovery facilitiemunicipal waste managementfunctional unitsynthetic indicewaste valorizationmaterial recovery raterefuse-derived fueleco-balanceimpact categorieenvironmental release
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Case-based portraits of contrasting micro-interaction processes during online assessment of collaborative problem solving

2017

This study recognizes the role and the quality of social aspects in collaborative problem solving (CPS) processes and outcomes. The aim of this study, relying on multiple data and phases of analysis, is to explore and visualise, through contrasting case-based portraits, how micro-interaction processes at pair level evolve during CPS assessments in an online environment. The assessment is designed for a student pair in the STEM domain. The results show that in despite students’ similar CPS performance scores, variations in micro-interactions occurred across pairs. It is expected that studying these patterns at pair level may provide new insights into CPS processes and so to support acquiring…

computer-supported collaborative learningdirected content analysisoppiminenongelmanratkaisuyhteisöllinen oppiminenpeer interactionkvalitatiivinen tutkimuscollaborationsocial aspectsteachingcase studiesyhteistyö
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Congenital double lip associated to hemangiomas: Report of a case

2004

Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-27T11:21:03Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:33:45Z : No. of bitstreams: 1 2-s2.0-3543121270.pdf: 61328 bytes, checksum: 7b80f6694b9e57340f5311bb4101c338 (MD5) Made available in DSpace on 2014-05-27T11:21:03Z (GMT). No. of bitstreams: 0 Previous issue date: 2004-03-01 Double lip is a developmental abnormality which may occur either isolated or as a component of Ascher's syndrome. A case of congenital double lip associated to hemangiomas and enlargement of the thyroid is reported. The oral and facial hemangiomas were excised under local anesthesia. Surgical reconstruction of the upper li…

congenital malformationspeechcongenital double lipmasticationOdontologíaascher syndromemouth malformationDouble lipmalelip reconstructioncase reportfollow uphumanLabio doblegoitersíndrome de Ascherblepharochalasisdisease association:CIENCIAS MÉDICAS [UNESCO]syndromeCiencias de la saludsymptomclinical featurestomatognathic diseasesagedhemangiomaUNESCO::CIENCIAS MÉDICASAscher's syndromediagnostic accuracycancer surgerylocal anesthesia
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Cytoprotective effects of the antioxidant phytochemical indicaxanthin in beta-thalassemia red blood cells

2006

Antioxidant phytochemicals are investigated as novel treatments for supportive therapy in beta-thalassemia. The dietary indicaxanthin was assessed for its protective effects on human beta-thalassemic RBCs submitted in vitro to oxidative haemolysis by cumene hydroperoxide. Indicaxanthin at 1.0-10 microM enhanced the resistance to haemolysis dose-dependently. In addition, it prevented lipid and haemoglobin (Hb) oxidation, and retarded vitamin E and GSH depletion. After ex vivo spiking of blood from thalassemia patients with indicaxanthin, the phytochemical was recovered in the soluble cell compartment of the RBCs. A spectrophotometric study showed that indicaxanthin can reduce perferryl-Hb ge…

congenital hereditary and neonatal diseases and abnormalitiesAntioxidantErythrocytesPyridinesmedicine.medical_treatmentindicaxanthinphytochemicalBiochemistryHemolysisAntioxidantschemistry.chemical_compoundHemoglobinsAntioxidants betalainhemic and lymphatic diseasesSettore BIO/10 - BiochimicamedicineBenzene DerivativesHumansVitamin ETraditional medicineDose-Response Relationship DrugChemistrybeta-ThalassemiaBeta thalassemiaGeneral Medicinemedicine.diseaseLipid MetabolismGlutathionehaemoglobinBetaxanthinsPhytochemicalBiochemistryCytoprotectionSpectrophotometryCase-Control StudiesHeminAntioxidants betalains haemoglobin indicaxanthin phytochemicals red blood cellsIndicaxanthinOxidation-Reductionred blood cells
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Phosphorylation of mismatch repair proteins MSH2 and MSH6 affecting MutSα mismatch-binding activity

2002

Mismatch repair (MMR) is involved in the removal of mispaired bases from DNA and thus plays an important role in the maintenance of genomic stability and the prevention of mutations and cancer. Moreover, MMR triggers genotoxicity and apoptosis upon processing of DNA lesions such as O6-methylguanine. Whereas the enzymology of MMR has been elucidated in great detail, only limited data are available concerning its regulation. Here we show that the major mismatch-binding proteins MSH2 and MSH6, forming the MutSalpha complex, are phosphorylated in vitro by protein kinase C and casein kinase II, but not by protein kinase A. Phosphorylation of MSH2 and MSH6 was also found within the cell, with MSH…

congenital hereditary and neonatal diseases and abnormalitiesDNA RepairDNA repairBase Pair MismatchMacromolecular SubstancesActive Transport Cell NucleusBiologyProtein Serine-Threonine KinasesArticleProto-Oncogene ProteinsGeneticsHumansProtein phosphorylationPhosphorylationProtein kinase ACasein Kinase IIneoplasmsProtein kinase CProtein Kinase CCell Nucleusnutritional and metabolic diseasesdigestive system diseasesDNA-Binding ProteinsMutS Homolog 2 ProteinBiochemistryMSH2PhosphorylationDNA mismatch repairCasein kinase 2HeLa Cells
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BARDET-BIEDL SYNDROME – CASE PRESENTATION

2015

Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight, polydactyly and hypo-genitalism.

congenital hereditary and neonatal diseases and abnormalitiesPediatricsmedicine.medical_specialtyPolydactylyobesity (overweight)Retinal dystrophybusiness.industryRGeneral MedicineCase presentationpolydactylyOverweightmedicine.diseasePediatricsRJ1-570nervous system diseasesDevelopmental psychologyBardet–Biedl syndromemedicineMedicinemedicine.symptombusinessbardet-biedl syndromeRomanian Journal of Pediatrics
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WRN protects against topo I but not topo II inhibitors by preventing DNA break formation

2008

The Werner syndrome helicase/3′-exonuclease (WRN) is a major component of the DNA repair and replication machinery. To analyze whether WRN is involved in the repair of topoisomerase-induced DNA damage we utilized U2-OS cells, in which WRN is stably down-regulated (wrn-kd), and the corresponding wild-type cells (wrn-wt). We show that cells not expressing WRN are hypersensitive to the toxic effect of the topoisomerase I inhibitor topotecan, but not to the topoisomerase II inhibitor etoposide. This was shown by mass survival assays, colony formation and induction of apoptosis. Upon topotecan treatment WRN deficient cells showed enhanced DNA replication inhibition and S-phase arrest, whereas af…

congenital hereditary and neonatal diseases and abnormalitiesWerner Syndrome HelicaseDNA RepairCell SurvivalDNA damageDNA repairBlotting WesternApoptosisBone NeoplasmsBiologyTopoisomerase-I InhibitorBiochemistryArticleWerner Syndrome HelicaseColony-Forming Units AssayHistonesTumor Cells CulturedmedicineHumansTopoisomerase II InhibitorsEnzyme InhibitorsRNA Small InterferingeducationMolecular BiologyEtoposideOsteosarcomaeducation.field_of_studyRecQ HelicasesTopoisomeraseCell CycleDNA Breaksnutritional and metabolic diseasesCell BiologyAntineoplastic Agents PhytogenicMolecular biologyDNA Topoisomerases Type IIExodeoxyribonucleasesBromodeoxyuridineDNA Topoisomerases Type IDNA Replication InhibitionCancer researchbiology.proteinTopoisomerase I InhibitorsTopoisomerase-II InhibitorTopotecanCamptothecinmedicine.drugDNA Repair
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