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showing 10 items of 4920 documents

Intraoperative Scintigraphy With Portable Gamma Camera for the Localization of Interaortocaval Paraganglioma

2021

A 15-year-old adolescent girl diagnosed of interaortocaval paraganglioma with a positive 123I-MIGB SPECT/CT and 1 unsuccessful prior surgery was operated on with the assistance of a handheld gamma camera. Once the lesion was located and removed, 2 images were taken, one of the surgical field (without 123I-MIGB uptake) and another of the tumor ex vivo (with high 123I-MIGB uptake), confirming that the lesion had been satisfactorily excised. This case highlights the use of a portable gamma camera as a useful tool to locate this rare tumor, with a SPECT/CT positive for 123I-MIGB and a difficult anatomical location suspected.

Prior SurgerySingle Photon Emission Computed Tomography Computed TomographyAdolescentmedicine.diagnostic_testbusiness.industryGeneral MedicineScintigraphymedicine.diseaselaw.inventionParagangliomaLesionRare tumorParagangliomalawmedicineHumansFemaleGamma CamerasRadiology Nuclear Medicine and imagingmedicine.symptomRadionuclide ImagingNuclear medicinebusinessGamma cameraClinical Nuclear Medicine
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Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients.

2001

Familial defective apolipoprotein (apo) B-100 together with familial hypercholesterolemia are the two common genetic conditions that cause hypercholesterolemia. Familial defective apolipoprotein B-100 is due to mutations around codon 3500 of the apo B gene. The most-characterized mutation is a G>A transition at nucleotide 10,708 that results in the substitution of arginine by glutamine at codon 3500 (Apo B Arg3500Gln). Two other mutations are caused by a C>T transition, one at nucleotide 10,800 (Apo B Arg3531Cys) and the other at nucleotide 10,707 (apo B Arg3500Trp). In the present study we describe three new Italian cases of familial defective apolipoprotein B-100 (Apo B Arg3500Gln), one f…

ProbandChinaSettore MED/09 - Medicina InternaApolipoprotein BGlutamineEuropean Continental Ancestry GroupHypercholesterolemiaFamilial hypercholesterolemiamedicine.disease_causeArgininePolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyWhite PeopleHaplotypemedicineHumansCysteineAlleleCodonGeneApolipoproteins BGeneticsMutationbiologyTransition (genetics)HaplotypeGeneral Medicinemedicine.diseaseEuropeSettore MED/03 - Genetica MedicaAmino Acid SubstitutionHaplotypesItalyApolipoprotein B-100Mutationbiology.proteinlipids (amino acids peptides and proteins)HumanClinical and experimental medicine
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Intelligence in DSM-IV combined type attention-deficit/hyperactivity disorder is not predicted by either dopamine receptor/transporter genes or other…

2008

Contains fulltext : 69677.pdf (Publisher’s version ) (Closed access) A major goal of genetic studies of attention deficit hyperactivity disorder (ADHD) is to identify individual characteristics that might help segregate the disorder's inherent heterogeneity. [Mill et al. (2006); Arch Ger Psychiatry 63:462-469] recently reported a potentially important association between two dopamine-related risk polymorphisms (DRD4 variable number tandem repeat (VNTR) in exon 3 and DAT1 VNTR in the 3' UTR) and lowered IQ in ADHD. The objective of the current study was to replicate the [Mill et al. (2006); Arch Ger Psychiatry 63:462-469] findings in a clinical sample and to extend the analysis to a large ra…

ProbandMaleGenetics and epigenetic pathways of disease [NCMLS 6]Intelligence2804 Cellular and Molecular NeuroscienceMedizinNeuroinformatics [DCN 3]Receptors DopamineCohort Studies2738 Psychiatry and Mental Health0302 clinical medicineRisk FactorsPerception and Action [DCN 1]MedicineGenetics(clinical)ChildGenetics (clinical)10058 Department of Child and Adolescent Psychiatry3. Good healthVariable number tandem repeatPsychiatry and Mental healthChild PreschoolFemaleFunctional Neurogenomics [DCN 2]Clinical psychology2716 Genetics (clinical)AdolescentGenotypeSingle-nucleotide polymorphism610 Medicine & healthMental health [NCEBP 9]Genomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]mental disordersAttention deficit hyperactivity disorderHumansGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleRisk factorAssociation (psychology)AllelesDopamine Plasma Membrane Transport Proteinsbusiness.industrymedicine.disease030227 psychiatryGenetic defects of metabolism [UMCN 5.1]Genetic markerAttention Deficit Disorder with Hyperactivitybusiness030217 neurology & neurosurgery
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Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD

2008

Contains fulltext : 70183.pdf (Publisher’s version ) (Closed access) Previous studies have found heterogeneous association between DAT1-3'-UTR-VNTR and attention deficit hyperactivity disorder (ADHD). Various proportions of conduct disorder (CD) comorbidity in their ADHD samples may partially explain the observational discrepancies. Evidence for this comes from family and twin studies which found ADHD probands with CD (ADHD + CD) are genetically different from those without CD (ADHD - CD). Genotypes of 20 DAT1 markers were analyzed in 576 trios, consisting of 141 ADHD + CD and 435 ADHD - CD. In addition to the classical TDT test, a specific genetic heterogeneity test was performed to identi…

ProbandMaleLinkage disequilibriumGenetics and epigenetic pathways of disease [NCMLS 6]2804 Cellular and Molecular NeuroscienceMedizinComorbidityNeuroinformatics [DCN 3]Linkage Disequilibrium2738 Psychiatry and Mental Health0302 clinical medicineGene FrequencyPerception and Action [DCN 1]Genetics(clinical)ChildGenetics (clinical)GeneticsIncidence10058 Department of Child and Adolescent PsychiatryEuropePsychiatry and Mental healthConduct disorder/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleFunctional Neurogenomics [DCN 2]Conduct DisorderGenetic Markers2716 Genetics (clinical)GenotypeSingle-nucleotide polymorphism610 Medicine & healthBiologyMental health [NCEBP 9]Polymorphism Single Nucleotidebehavioral disciplines and activitiesGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesGenetic HeterogeneityCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]SDG 3 - Good Health and Well-beingmental disordersmedicineAttention deficit hyperactivity disorderHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleAllelesDopamine Plasma Membrane Transport ProteinsChi-Square DistributionGenetic heterogeneitymedicine.diseaseTwin study030227 psychiatryGenetic defects of metabolism [UMCN 5.1]HaplotypesAttention Deficit Disorder with Hyperactivity030217 neurology & neurosurgery
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Towards a more sustainable process industry: A single case study of restructuring within the Eyde process industry cluster

2018

Due to increased attention on environmental issues, industrial sustainable restructuring is high on the research agenda. The article adds to the literature through an analysis of a restructuring process within a Norwegian process industry cluster. By introducing an analytical framework combining the concepts of entrepreneurial discovery process and path dependency theory, the article offers a deeper understanding of the role of various types of actors in processes of restructuring. The authors categorise the actors as either firm-level entrepreneurs or system-level entrepreneurs on the basis of their motivation. While the former are motivated mainly by firm success, the latter find their mo…

Process (engineering)Restructuring05 social sciencesGeography Planning and Development0211 other engineering and technologies0507 social and economic geography021107 urban & regional planning02 engineering and technologySingle-subject designSustainable processBusiness process discoverySustainabilityCluster (physics)General Earth and Planetary SciencesBusinessProcess industry050703 geographyIndustrial organizationNorsk Geografisk Tidsskrift - Norwegian Journal of Geography
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Dendronized azochromophores with aromatic and perfluoroaromatic fragments: Synthesis and properties demonstrating Ar ArF interactions

2019

Abstract Syntheses of four new dendronized azochromophores were performed from 2-(2-amino-5-nitrophenoxy)ethanol, 2-[methyl(phenyl)amino]ethanol, 3,5-bis(benzyloxy)benzoic acid and 3,5-bis[(pentafluorophenyl)methoxy]benzoic acid using azo coupling reaction and ester formation reaction in presence of N,Nʹ-dicyclohexylcarbodiimide and 4-(dimethylamino)pyridine. Arene-perfluoroarene (Ar ArF) interactions are demonstrated in single crystal structure of dendronized azochromophore between pentafluorophenyl fragment and acceptor part of the azochromophore. The effect of Ar ArF interactions becomes apparent in thermal and nonlinear optical properties of the chromophores. Glass transition temperatur…

Process Chemistry and TechnologyGeneral Chemical Engineering02 engineering and technologyAzo couplingChromophore010402 general chemistry021001 nanoscience & nanotechnologyPhotochemistry01 natural sciencesAcceptor0104 chemical sciencesAmorphous solidchemistry.chemical_compoundchemistryPyridine0210 nano-technologyGlass transitionSingle crystalBenzoic acidDyes and Pigments
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Incremental forming using KUKA KR210-2 industrial robot - research regarding design rules and process modelling

2021

Incremental sheet forming (ISF) process show a great potential in the manufacturing of small series production or prototype development parts. One of the sheet metal forming process, where the contact between punch and metal sheet is in a single point, is known as single point incremental forming (SPIF). The part is manufacture with a simple tool, known as punch, that performs a series of combined movements on the vertically and horizontally directions. The paper introduces a study regarding the design rules and process modelling of this unconventional process, by means of a KUKA KR210-2 industrial robot as technological equipment able to control the correlated movement of the punch. Supple…

Process modelingProcess (computing)Mechanical engineeringForming processesEngineering (General). Civil engineering (General)law.inventionIndustrial robotSingularitylawvisual_artvisual_art.visual_art_mediumTA1-2040Single pointSheet metalIncremental sheet formingMATEC Web of Conferences
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Influence of core color on final shade reproduction of zirconia crown in single central incisor situation ? An in vivo study

2020

Background A lot of shaded zirconia blocks are being introduced into the market. Their effect on the final shade of the restoration is yet uncertain. Material and methods Twenty-four zirconia crowns were fabricated for 8 patients who needed to restore a single maxillary central incisor, and divided into 3 groups according to the color and type of the zirconia (Zr) used (white Zr core, colored Zr core, and monolithic high translucency (ht) Zr crowns). Using Easyshade spectrophotometer, delta E color difference was calculated between fabricated crown and adjacent tooth. The ΔEs obtained were assessed based on 1.6 ΔE which represented the color difference that could not be detected by the huma…

Prosthetic DentistryMaterials scienceColor differenceColor visionmedicine.medical_treatmentResearch0206 medical engineeringColor reproduction030206 dentistry02 engineering and technology:CIENCIAS MÉDICAS [UNESCO]020601 biomedical engineeringCrown (dentistry)Core (optical fiber)03 medical and health sciences0302 clinical medicineColoredUNESCO::CIENCIAS MÉDICASmedicineCubic zirconiaComposite materialSingle central incisorGeneral Dentistry
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A Stevedore's protein knot.

2009

Protein knots, mostly regarded as intriguing oddities, are gradually being recognized as significant structural motifs. Seven distinctly knotted folds have already been identified. It is by and large unclear how these exceptional structures actually fold, and only recently, experiments and simulations have begun to shed some light on this issue. In checking the new protein structures submitted to the Protein Data Bank, we encountered the most complex and the smallest knots to date: A recently uncovered α-haloacid dehalogenase structure contains a knot with six crossings, a so-called Stevedore knot, in a projection onto a plane. The smallest protein knot is present in an as yet unclassified …

Protein FoldingHydrolasesProtein ConformationComputational Biology/Macromolecular Structure Analysis02 engineering and technologyBiologyMolecular Dynamics SimulationComputational Biology/Molecular DynamicsCombinatorics03 medical and health sciencesCellular and Molecular NeuroscienceKnot (unit)Protein structureGeneticsStructural motifDatabases ProteinMolecular Biologylcsh:QH301-705.5Ecology Evolution Behavior and Systematics030304 developmental biology0303 health sciencesTopological complexityQuantitative Biology::BiomoleculesEcologycomputer.file_format021001 nanoscience & nanotechnologyProtein Data BankMathematics::Geometric TopologyComputational Theory and MathematicsBiochemistrylcsh:Biology (General)Modeling and SimulationProtein foldingStevedore knot0210 nano-technologySingle loopcomputerResearch ArticlePLoS Computational Biology
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Common Factors in Neurodegeneration: A Meta-Study Revealing Shared Patterns on a Multi-Omics Scale

2020

Neurodegenerative diseases such as Alzheimer&rsquo

Proteomicsamyotrophic lateral sclerosisParkinson's diseaseDatabases FactualProteomeDiseaseComputational biologyBiologyPolymorphism Single NucleotideArticleTranscriptomeImmune systemHuntington's diseaseAlzheimer DiseasemedicineHumansbiochemistryAmyotrophic lateral sclerosislcsh:QH301-705.5GeneAlzheimer’s disease ; multi-omics ; neurodegeneration ; Huntington’s disease ; Parkinson’s disease ; amyotrophic lateral sclerosisNeurodegenerationneurodegenerationNeurodegenerative DiseasesParkinson DiseaseGenomicsGeneral Medicinemulti-omicsmedicine.diseaseImmunity HumoralGene OntologyHuntington Diseaselcsh:Biology (General)Parkinson’s diseaseTranscriptomeAlzheimer’s diseaseGenome-Wide Association StudyHuntington’s disease
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