Search results for "Mali"

showing 10 items of 3900 documents

Array CGH defined interstitial deletion on chromosome 14: a new case

2009

Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.

BiologyLong armSettore MED/38 - Pediatria Generale E SpecialisticaIntellectual DisabilitymedicineHumansAbnormalities MultipleDysmorphic facial featuresChildIn Situ Hybridization FluorescenceOligonucleotide Array Sequence AnalysisChromosomes Human Pair 14GeneticsComparative Genomic HybridizationPsychomotor retardationChromosomeFacePediatrics Perinatology and Child HealthChromosomal regionFish <Actinopterygii>FemaleChromosome 14 interstitial deletion . Psychomotor retardation . FISH . Array CGHChromosome DeletionPsychomotor Disordersmedicine.symptomPsychomotor disorderComparative genomic hybridizationEuropean Journal of Pediatrics
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Monitoring barley and corn growth from remote sensing data at field scale

2004

Vegetation indices have been used for operational quantitative monitoring of vegetation. Here, corn and barley cultures have been used to relate meaningful biophysical parameters such as dry biomass and Crop Growth Rate (CGR) to the well-established Normalized Difference Vegetation Index (NDVI). We explain these relationships by means of the use of the Light Use Efficiency (LUE) models, based on the positive relation between primary production and Absorbed Photosynthetically Active Radiation (APAR). In these models we introduce NDVI as a linear estimator of f APAR. Experimental data over corn and barley show that dry biomass is linearly related to the Time-Integrated Value of the NDVI (TIND…

Biomass (ecology)Photosynthetically active radiationmedicineGeneral Earth and Planetary SciencesEnvironmental scienceStage (hydrology)medicine.symptomScale (map)Linear growthVegetation (pathology)Normalized Difference Vegetation IndexField (geography)Remote sensingInternational Journal of Remote Sensing
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Global Scale IB AMSR2 Vegetation Optical Depth at X-Band

2021

Vegetation Optical Depth (VOD) plays an increasingly important role in studying global carbon, water and energy transformation [1], [2]. This study explores the performance of the X-MEB (X-band microwave emission of the biosphere) model at global scale. Similar to the L-MEB model, the X-MEB model, built by INRAE (Institut national de recherche pour l'agriculture, l'alimentation et l'environnement) Bordeaux, aims to retrieve VOD (referred to as IB X-VOD) at X-band. To avoid the ill-posed problem caused by retrieving two parameters of interest (soil moisture (SM) and VOD) from mono-angular and dual-polarized observations (AMSR2), which are strongly correlated, we used the ERA5 SM product as a…

Biomass (ecology)Scale (ratio)BiosphereEnvironmental scienceVegetationLeaf area indexAlbedoAtmospheric sciencesWater contentNormalized Difference Vegetation Index2021 IEEE International Geoscience and Remote Sensing Symposium IGARSS
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Multicentre evaluation of in vitro contracture testing with bolus administration of 4-chloro-m-cresol for diagnosis of malignant hyperthermia suscept…

2003

Background and objective The in vitro contracture test with halothane and caffeine is the gold standard for the diagnosis of susceptibility to malignant hyperthermia (MH). However, the sensitivity of the in vitro contracture test is between 97 and 99% and its specificity is 78-94% with the consequence that false-negative as well as false-positive test results are possible. 4-Chloro-m-cresol is potentially a more specific test drug for the in vitro contracture test than halothane or caffeine. This multicentre study was designed to investigate whether an in vitro contracture test with bolus administration of 4-chloro-m-cresol can improve the accuracy of the diagnosis of susceptibility to MH. …

BiopsyIn Vitro TechniquesSensitivity and SpecificityCresolsCaffeineBiopsymedicineHumansMuscle SkeletalMuscle contracturemedicine.diagnostic_testInhalationbusiness.industryMalignant hyperthermiaGold standard (test)medicine.diseaseAnesthesiology and Pain MedicineAnesthesiaDisease SusceptibilityHuman medicineContracturemedicine.symptomHalothaneComplicationbusinessHalothaneMalignant Hyperthermiamedicine.drugMuscle ContractionEuropean Journal of Anaesthesiology
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A ciliopathy complex builds distal appendages to initiate ciliogenesis

2021

ABSTRACTCells inherit two centrioles, the older of which is uniquely capable of generating a cilium. Using proteomics and super-resolved imaging, we identified a module which we term DISCO (DIStal centriole COmplex). DISCO components CEP90, MNR and OFD1 underlie human ciliopathies. This complex localized to both distal centrioles and centriolar satellites, proteinaceous granules surrounding centrioles. Cells and mice lacking CEP90 or MNR did not generate cilia, failed to assemble distal appendages, and did not transduce Hedgehog signals. Disrupting the satellite pools did not affect distal appendage assembly, indicating that it is the centriolar populations of MNR and CEP90 that are critica…

BioquímicaCentrioleGreen Fluorescent ProteinsRetinal Pigment EpitheliumBiologyCiliopathiesCell LineMice03 medical and health sciences0302 clinical medicineBacterial ProteinsGenes ReporterCiliogenesismedicineAnimalsHumansbiochemistryCiliadevelopmentHedgehogCentrioles030304 developmental biologyMice KnockoutAppendage0303 health sciencesCiliumciliaProteinsEpithelial CellscytoskeletonCell BiologyEmbryo Mammalianmedicine.diseaseCiliopathiesCell biologyMice Inbred C57BLLuminescent ProteinsCiliopathyGene Expression RegulationMicrotubule-Associated Proteins030217 neurology & neurosurgerySignal TransductionJournal of Cell Biology
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The formal method in Germany and Russia : the beginnings of European psycholinguistics

2018

Abstract German–Austrian psychology is a direct source of the European formalism movement both in the German context (Germany, Austria) as well as in Russia. This interest of the formalists in the corporeal component of linguistic and literary production has resulted in a particular research stream, which could be defined as a ‘linguo-somatic orientation’. In particular, this is the case of Alois Riegl’s [1] perceptive ‘tactile–optical’ method; Adolf von Hildebrand’s [2] architectonic conception; Konrad Fiedler’s [3] ‘sensorial aesthetics’; W. Wölfflin’s [4] ‘basic concepts’ of the art history, W. Worringer’s [5] psychological arts typology as well as Oskar Walzel’s sound-corporeal poetics …

BiosemioticspsychologisationPsycholinguisticsGerman-Austrian psychology[SHS.LITT]Humanities and Social Sciences/LiteratureFormalism (Literary analysis)05 social sciences050801 communication & media studiesApplied linguisticsFormalisme (littérature)16. Peace & justiceFormal methodsPsycholinguisticsLinguistics0506 political science0508 media and communicationsCulture theoryPsycholinguistiqueCultural studies050602 political science & public administrationTheoretical linguisticsSemioticsSociology[SHS.LANGUE]Humanities and Social Sciences/Linguistics
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Duration of untreated psychosis in first-episode psychosis is not associated with common genetic variants for major psychiatric conditions: results f…

2021

The EU-GEI Project is funded by the European Community’s Seventh Framework Programme under grant agreement No. HEALTH-F2-2010–241909 (Project EU-GEI).

Bipolar DisorderTime FactorsIntelligenceGenome-wide association studyDETERMINANTSpsychosi0302 clinical medicineInterquartile rangeSettore MED/48 -Scienze Infermierist. e Tecn. Neuro-Psichiatriche e Riabilitat.IMPUTATIONpolygenic scorepsychosis0303 health sciencesConfoundingEuropePsychiatry and Mental healthgenome-wide association studieSchizophreniaMajor depressive disorderlipids (amino acids peptides and proteins)Case-Control Studieduration of untreated psychosisBrazilHumanAdultPsychosismedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesTime FactorAcademicSubjects/MED00810DISORDERS1ST EPISODEILLNESSPsychotic Disorderduration of untreated psychosi03 medical and health sciencesInternal medicinemedicineHumansBipolar disorderGENOME-WIDE ASSOCIATIONSettore MED/25 - PsichiatriaMETAANALYSIS030304 developmental biologyDepressive Disorder Majorbusiness.industryCOMPONENTSTREATMENT DELAYmedicine.diseaseTRANSTORNO BIPOLARschizophreniapolygenic scoresPsychotic DisordersCase-Control Studiesdupgenome-wide association studiesbusiness030217 neurology & neurosurgeryRegular ArticlesGenome-Wide Association Study
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Black Holes in Extended Gravity Theories in Palatini Formalism

2013

We consider several physical scenarios where black holes within classical gravity theories including R 2 and Ricci-squared corrections and formulated a la Palatini can be analytically studied.

Black holePhysicsGeneral Relativity and Quantum CosmologyFormalism (philosophy of mathematics)Classical mechanicsAstrophysics::High Energy Astrophysical PhenomenaField equation
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The dynamics of structural modifications of mitochondria at the early stages of sea urchin embryonic development

1992

The organization of the chondriome and the ultrastructure of mitochondria have been studied in eggs and embryos of the sea urchin Paracentrotus lividus. The egg chondriome is characterized by an arrangement in well-delimited clusters. Analysis of mitochondrial clusters on electron micrographs of ultrathin serial sections shows two kinds of mitochondria of different shapes, the rod-shaped and the spherical. The egg mitochondria have a dense matrix and a well-ordered arrangement of cristae which, in rod-shaped variety, are perpendicular to the major axis. Cell division is accompanied by significant changes in intracellular distribution of mitochondria and in their structure. At the stage of 2…

BlastomeresEmbryo NonmammalianbiologyCell divisionEmbryonic DevelopmentGastrulaCell BiologyAnatomyMitochondrionMatrix (biology)biology.organism_classificationBlastulaParacentrotus lividusMitochondriaGastrulationMicroscopy ElectronBlastocystSea Urchinsbiology.animalembryonic structuresUltrastructureBiophysicsAnimalsSea urchinCell Biology International Reports
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Amyloid precursor protein in platelets: A peripheral marker for the diagnosis of sporadic AD

2001

BACKGROUND: An altered pattern of amyloid precursor protein (APP) forms consisting in a reduced ratio between the upper (130 kDa) and the lower (106 to 110 kDa) immunoreactivity bands has been described in platelets of patients with AD. OBJECTIVE: To evaluate the sensitivity and the specificity of platelet APP forms' ratio (APPr) as a marker for AD. METHODS: Eighty-five patients with probable AD and 95 control subjects (CON), including healthy individuals and neurologic patients, entered the study. Platelet APPr was evaluated by means of Western Blot analysis and immunostaining in the whole platelet homogenate, and calculated by the ratio between the optical density (OD) of the upper (130 k…

Blood PlateletsMalePathologymedicine.medical_specialtyBlood cellCentral nervous system diseaseAmyloid beta-Protein PrecursorDegenerative diseaseWestern blotAlzheimer DiseasemedicineAmyloid precursor proteinHumansPlateletAgedPsychiatric Status Rating Scalesmedicine.diagnostic_testbiologybusiness.industryMiddle Agedmedicine.diseaseAbnormalities in the pattern of platelet amyloid precursor protein forms in patients with mild cognitive impairment and Alzheimer diseasemedicine.anatomical_structureAmyloid precursor proteinbiology.proteinFemaleSettore MED/26 - NeurologiaNeurology (clinical)Alzheimer's diseasebusinessImmunostainingBiomarkers
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