Search results for "87"

showing 10 items of 1099 documents

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants

2020

Mice lacking GAD1 show neonatal mortality, but the human phenotype associated with GAD1 disruption is poorly characterized. Neuray et al. describe six patients with biallelic GAD1 mutations, presenting with early-infantile onset epilepsy, neurodevelopmental delay, muscle weakness and non-CNS manifestations.

Male0301 basic medicineGlutamate decarboxylaseMalalties cerebralsNeurotransmissorsNeurodevelopmental delayEpilepsy0302 clinical medicineMESH: ChildAge of OnsetChildcleft palateGAD1AcademicSubjects/SCI01870Glutamate DecarboxylaseGlutamate receptorMuscle weakness//purl.org/becyt/ford/3.1 [https]NeurotransmittersMESH: InfantHypotoniamuscle weakneCleft palateMESH: EpilepsyChild PreschoolMuscle Hypotonia[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]//purl.org/becyt/ford/3 [https]FemaleBrain diseasesAbnormalitiesmedicine.symptomMultiplemedicine.drugcleft palate; epilepsy; GAD1; muscle weakness; neurodevelopmental delayMESH: Glutamate Decarboxylasemedicine.medical_specialtyMESH: Abnormalities MultipleMESH: MutationMESH: Age of OnsetBiologyInhibitory postsynaptic potentialGAD1 cleft palate epilepsy muscle weakness neurodevelopmental delay.gamma-Aminobutyric acidGAD1neurodevelopmental delay03 medical and health sciencesExcitatory synapseInternal medicinemedicineHumansAbnormalities MultiplePreschoolAllelesMESH: Neurodevelopmental Disordersmuscle weaknessMESH: HumansEpilepsyMESH: Muscle HypotoniaMESH: AllelesMESH: Child PreschoolInfantmedicine.diseaseMESH: MaleEpilèpsiaEditor's Choice030104 developmental biologyEndocrinologyNeurodevelopmental DisordersMutationepilepsyAcademicSubjects/MED00310Neurology (clinical)Cleft palate; Epilepsy; GAD1; Muscle weakness; Neurodevelopmental delay; Abnormalities Multiple; Age of Onset; Alleles; Child; Child Preschool; Epilepsy; Female; Glutamate Decarboxylase; Humans; Infant; Male; Muscle Hypotonia; Mutation; Neurodevelopmental DisordersMESH: Female[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology030217 neurology & neurosurgeryReports
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Spermiogram and sperm head morphometry assessed by multivariate cluster analysis results during adolescence (12-18 years) and the effect of varicocele

2016

Artículo científico This work evaluates sperm head morphometric characteristics in adolescents from 12 to 18 years of age, and the effect of varicocele. Volunteers between 150 and 224 months of age (mean 191, n = 87), who had reached oigarche by 12 years old, were recruited in the area of Barranquilla, Colombia. Morphometric analysis of sperm heads was performed with principal component (PC) and discriminant analysis. Combining seminal fluid and sperm parameters provided five PCs: two related to sperm morphometry, one to sperm motility, and two to seminal fluid components. Discriminant analysis on the morphometric results of varicocele and nonvaricocele groups did not provide a useful class…

Male0301 basic medicineMultivariate statisticsMultivariate analysisVaricocelelcsh:RC870-923:MEDICINE::Morphology cell biology pathology [Research Subject Categories]0302 clinical medicineVaricoceleCluster AnalysisChildsubpopulationreproductive and urinary physiologySperm motilityeducation.field_of_study030219 obstetrics & reproductive medicinemedicine.diagnostic_testGeneral MedicineSpermatozoaseminal qualitySperm MotilityCASA-Morph systemSecrecionesendocrine systemAdolescentUrologyPopulationInvited Original ArticleSemen analysisBiologyDisease clusterAndrology03 medical and health sciencesFluidosmedicineHumansadolescence; CASA-Morph system; seminal quality; sperm head morphometry; spermiogram; subpopulationeducationCell Shapeurogenital systemlcsh:Diseases of the genitourinary system. Urologymedicine.diseasespermiogramGenéticaSpermSemen Analysis030104 developmental biologyMultivariate AnalysisAdolescenciaSperm Headadolescencesperm head morphometryAsian Journal of Andrology
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Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990-2013: a systematic analysis for …

2015

Background Up-to-date evidence on levels and trends for age-sex-specific all-cause and cause-specific mortality is essential for the formation of global, regional, and national health policies. In the Global Burden of Disease Study 2013 (GBD 2013) we estimated yearly deaths for 188 countries between 1990, and 2013. We used the results to assess whether there is epidemiological convergence across countries. Methods We estimated age-sex-specific all-cause mortality using the GBD 2010 methods with some refinements to improve accuracy applied to an updated database of vital registration, survey, and census data. We generally estimated cause of death as in the GBD 2010. Key improvements included…

MaleAgingPediatricsNutrition and DiseaseDatabases FactualDisease030204 cardiovascular system & hematologyGlobal HealthMedical and Health SciencesDOUBLE-BLIND0302 clinical medicineAdolescent; Adult; Aged; Aged 80 and over; Cause of Death; Child; Child Mortality; Child Preschool; Databases Factual; Female; Global Health; Humans; Infant; Infant Newborn; Life Expectancy; Life Tables; Male; Middle Aged; Models Statistical; Mortality; Sex Distribution; Young AdultModelsVoeding en ZiekteCause of DeathEpidemiologyGlobal health80 and over2.2 Factors relating to the physical environmentLife Tables030212 general & internal medicineAetiologyChildINFLUENZAE TYPE-B11 Medical and Health SciencesCause of deathPediatricAged 80 and overPLACEBO-CONTROLLED-TRIALLife TableMortality rateMedicine (all)1. No povertyGeneral MedicineCHILDHOOD PNEUMONIAMiddle AgedStatistical3. Good healthInfectious DiseasesChild PreschoolPNEUMOCOCCAL CONJUGATE VACCINEChild MortalityFemaleInfectionLife Sciences & BiomedicineHumanAdultmedicine.medical_specialtyAdolescentINTEGRATED APPROACHCHILDREN YOUNGER187 COUNTRIESDatabase03 medical and health sciencesDatabasesYoung AdultMedicine General & InternalLife ExpectancyGeneral & Internal MedicinemedicineLife ScienceHumansMortalitySex DistributionPreschoolFactualVLAGAgedScience & TechnologyModels Statisticalbusiness.industryPreventionPOPULATION HEALTHInfant NewbornENTERIC MULTICENTERInfantGBD 2013 Mortality and Causes of Death CollaboratorsNewbornVerbal autopsyChild mortalityGood Health and Well BeingLife expectancyRISK-FACTORSbusiness2.4 Surveillance and distributionDemographyModel
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Simulated poaching affects global connectivity and efficiency in social networks of African savanna elephants-An exemplar of how human disturbance im…

2022

Selective harvest, such as poaching, impacts group-living animals directly through mortality of individuals with desirable traits, and indirectly by altering the structure of their social networks. Understanding the relationship between disturbance-induced, structural network changes and group performance in wild animals remains an outstanding problem. To address this problem, we evaluated the immediate effect of disturbance on group sociality in African savanna elephants—an example, group-living species threatened by poaching. Drawing on static association data from ten free-ranging groups, we constructed one empirically based, population-wide network and 100 virtual networks; performed a …

MaleElephantsPopulation DynamicsInformation TheorySocial SciencesPlant ScienceSociologyCentralityPsychologyBiology (General)MammalsAnimal BehaviorEcologyEukaryotaTerrestrial EnvironmentsSocial NetworksComputational Theory and MathematicsAnimal SocialityGrasslandsModeling and SimulationVertebratesPhysical SciencesFemaleCrimeNetwork AnalysisResearch ArticleVDP::Matematikk og Naturvitenskap: 400::Zoologiske og botaniske fag: 480::Systematisk zoologi: 487Conservation of Natural ResourcesComputer and Information SciencesSocial PsychologyQH301-705.5Animals WildNetwork ResilienceCellular and Molecular NeuroscienceClustering CoefficientsGeneticsAnimalsHumansHuntingSocial BehaviorPlant CommunitiesMolecular BiologyEcology Evolution Behavior and SystematicsBehaviorPlant EcologyEcology and Environmental SciencesOrganismsSocial InfluenceComputational BiologyBiology and Life SciencesGraph TheorySciences de l'environnement/Biodiversité et EcologieAmniotesZoologyMathematicsVDP::Matematikk og Naturvitenskap: 400::Zoologiske og botaniske fag: 480
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Calcium overload increases oxidative stress in old rat gastrocnemius muscle

2005

International audience; In order to challenge in vivo muscle Ca2+ homeostasis and analyze consequences on mitochondrial H2O2 release (MHR) and sarcopenia, we injected Ca2+ ionophore A23187 (200 µg/kg, ip) in adult and old rats and measured gastrocnemius mass and mitochondrial Ca2+ content (MCC) using radioactive Ca2+ 48 h after injection. In a second experiment performed in old rats, we measured isocitrate dehydrogenase (ICDH) activity as an index of MCC, MHR, mitochondrial respiration, citrate synthase, COX and antioxydant enzyme activities 24 h after a 150 µg/kg injection. In adult rats, muscle mass and MCC were unchanged by A23187. In old rats, MCC increased 24 h after injection as refle…

MaleGPXAGINGOxygen ConsumptionMITOCHONDRIAAnimalsIONOPHORE A 23187Rats WistarFREE RADICALSODMuscle SkeletalCalcimycinIonophoresfood and beveragesHydrogen PeroxideOrgan Size[SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciencesA23187Mitochondria MuscleRatsENZYME GLUTATHION PEROXYDASE[SDV.SP] Life Sciences [q-bio]/Pharmaceutical sciencesOxidative StressENZYME SUPEROXYDE DISMUTASECalciumSKELETAL MUSCLE
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Validity of the Mini-Nutritional Assessment Scale for Evaluating Frailty Status in Older Adults

2019

Objectives: Comprehensive Geriatric Assessment (CGA) may not be performed in clinical practice as it takes too much time and requires special training. The Mini-Nutritional Assessment (MNA) is widely used to assess nutritional status in older adults. We aimed to determine whether or not the MNA can estimate frailty status defined by the Fried criteria. Setting and Participants: Six hundred two outpatients aged 65 years or older who underwent the CGA were included the study. Measures: Frailty status was defined by 5 dimensions including shrinking, exhaustion, low levels of activity, weakness, and slowness: 0 for robust, 1–2 for prefrail, and 3–5 for frail. MNA was performed in all participan…

MaleGerontologyMini nutritional assessmentWeaknessIntraclass correlationFrail Elderlymini-nutritional assessmentNutritional StatusSoysal P. ISIK A. ARIK F. KALAN U. EYVAZ A. VERONESE N. -Validity of the Mini-Nutritional Assessment Scale for Evaluating Frailty Status in Older Adults.- Journal of the American Medical Directors Association cilt.20 ss.183-187 201903 medical and health sciences0302 clinical medicineHumansMass ScreeningMedicine030212 general & internal medicineGeriatric AssessmentGeneral NursingAgedAged 80 and overFrailtyReceiver operating characteristicbusiness.industryscreeningHealth PolicyReproducibility of ResultsGeriatric assessmentMean ageGeneral MedicineHealth SurveysClinical PracticeNutrition AssessmentnutritionScale (social sciences)FemaleprefrailtyGeriatrics and Gerontologymedicine.symptombusiness030217 neurology & neurosurgeryJournal of the American Medical Directors Association
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Human brain ages with hierarchy-selective attenuation of prediction errors

2020

Abstract From the perspective of predictive coding, our brain embodies a hierarchical generative model to realize perception, which proactively predicts the statistical structure of sensory inputs. How are these predictive processes modified as we age? Recent research suggested that aging leads to decreased weighting of sensory inputs and increased reliance on predictions. Here we investigated whether this age-related shift from sensorium to predictions occurs at all levels of hierarchical message passing. We recorded the electroencephalography responses with an auditory local–global paradigm in a cohort of 108 healthy participants from 3 groups: seniors, adults, and adolescents. The detect…

MaleMismatch negativityAudiologyElectroencephalographyRandom Allocation[SCCO]Cognitive scienceCognition0302 clinical medicineprediction errorsEEGelectroencephalography (EEG)predictive codingmedia_commonAged 80 and overmedicine.diagnostic_testAcademicSubjects/SCI0187005 social sciencesBrainElectroencephalographyMiddle Agedhavaintopsykologiaauditory perceptionEvoked Potentials AuditoryOriginal ArticleFemalePsychologyAdultAuditory perceptionmedicine.medical_specialtyCognitive Neurosciencemedia_common.quotation_subjectSensory systemkuulohavainnot050105 experimental psychologyYoung Adult03 medical and health sciencesCellular and Molecular NeuroscienceP3aPerceptionP3bmedicineHumans0501 psychology and cognitive sciencesAcademicSubjects/MED00385AgedWorking memory[SCCO.NEUR]Cognitive science/NeuroscienceaginghavainnotikääntyminenAcoustic StimulationAcademicSubjects/MED00310Psychomotor Performance030217 neurology & neurosurgeryForecasting
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Comparison of different statistical approaches to evaluate morphometric sperm subpopulations in men.

2016

This study was designed to characterize morphometric sperm subpopulations in normozoospermic men by using different statistical methods and examining their suitability to classify correctly different sperm nuclear morphologies present in human ejaculates. Ejaculates from 21 normozoospermic men were collected for the study. After semen collection and analysis, samples were prepared for morphometric determination. At least 200 spermatozoa per sample were assessed for sperm morphometry by computer-assisted sperm morphometry analysis (CASA-Morph) using fluorescence. Clustering and discriminant procedures were performed to identify sperm subpopulations from the morphometric data obtained. Cluste…

MaleMultivariate statisticsendocrine systemUrologyInvited Original ArticleBiologylcsh:RC870-923Semen collectionCell sizeAndrology03 medical and health sciences0302 clinical medicinemanCluster AnalysisHumansCell Shapereproductive and urinary physiologyCell SizePrincipal Component Analysis030219 obstetrics & reproductive medicineurogenital system0402 animal and dairy science04 agricultural and veterinary sciencesGeneral Medicinelcsh:Diseases of the genitourinary system. Urology040201 dairy & animal scienceSpermSpermatozoaNuclear shapeSemen AnalysisPrincipal component analysissperm subpopulationscomputer-assisted sperm morphometry analysis; man; sperm subpopulationscomputer-assisted sperm morphometry analysisAsian journal of andrology
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Cardiovascular risk factors and the impact on prognosis in patients with chronic kidney disease secondary to autosomal dominant polycystic kidney dis…

2021

Background: Autosomal dominant polycystic kidney disease (ADPKD) is the most frequent hereditary renal disease. There is an increased rate of cardiovascular disease (CVD) in ADPKD. In this study, we evaluate the prevalence of cardiovascular risk factors, the achievement rates for treatment goals and cardiovascular events (CVE) in ADPKD and their relations with asymptomatic CVD in CKD from other etiologies (CKDoe) and controls. Methods: We evaluated 2445 CKD patients (2010–2012). The information collected was: clinical, anthropometric and analytical parameters, treatments and CVD evaluation (intima-media thickness (IMT), atheromatous plaque presence and ankle-brachial index (ABI)). Laborator…

MaleNephrologymedicine.medical_specialtyAutosomal dominant polycystic kidney diseaseRenal functionComorbiditylcsh:RC870-923urologic and male genital diseasesCarotid Intima-Media ThicknessAsymptomaticNephropathyAutosomal dominant polycystic kidney diseaseInternal medicineChronic kidney diseasemedicineHumansAnkle Brachial Indexcardiovascular diseasesRenal Insufficiency ChronicProteinuriabusiness.industryMiddle AgedPolycystic Kidney Autosomal DominantPrognosislcsh:Diseases of the genitourinary system. Urologymedicine.diseaseCardiovascular diseasePlaque Atheroscleroticfemale genital diseases and pregnancy complicationsNephropathyCor MalaltiesBlood pressureCardiovascular DiseasesHeart Disease Risk FactorsNephrologyDisease ProgressionInsuficiència renal crònicaFemalemedicine.symptombusinessResearch ArticleKidney disease
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Characterization of human infiltrating and circulating gamma-delta T cells in prostate cancer

2019

Purpose The aim of our study was to prospectively evaluate the distribution of gamma-delta (γδ)1 and γδ2 T cells and their phenotypes in peripheral blood and prostate samples of patients diagnosed with or without prostate cancer (PCa) at prostate biopsy. Materials and methods A consecutive series of 43 outpatients underwent trans-rectal echo-guided prostate biopsy for suspected PCa. Flow cytometry analysis was used to identify and characterize the γδ T cells populations in peripheral blood and tissue samples. Patients were stratified according to the presence or not of PCa, and its International Society of Urological Pathology (ISUP) grade (1 vs. ≥2). Results The distribution of γδ T cells …

MalePathologymedicine.medical_specialtyProstate biopsyT-Lymphocyte subsetUrological OncologyBiopsyUrology030232 urology & nephrologylcsh:RC870-923Flow cytometry03 medical and health sciencesProstate cancerLymphocytes Tumor-Infiltrating0302 clinical medicineProstateBiopsymedicineHumansProspective StudiesIntraepithelial LymphocytesAgedNeoplasm gradingmedicine.diagnostic_testbusiness.industryCancerMiddle AgedNeoplastic Cells Circulatinglcsh:Diseases of the genitourinary system. Urologymedicine.diseasePhenotypeImmunologic surveillanceImmunosurveillancemedicine.anatomical_structure030220 oncology & carcinogenesisOriginal ArticleProstatic neoplasmsProstatic neoplasmbusinessT-Lymphocyte subsetsInvestigative and Clinical Urology
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