Search results for "Typing"

showing 10 items of 1051 documents

Polymorphisms in DCDC2 and S100B associate with developmental dyslexia

2015

Genetic studies of complex traits have become increasingly successful as progress is made in next-generation sequencing. We aimed at discovering single nucleotide variation present in known and new candidate genes for developmental dyslexia: CYP19A1, DCDC2, DIP2A, DYX1C1, GCFC2 (also known as C2orf3), KIAA0319, MRPL19, PCNT, PRMT2, ROBO1 and S100B. We used next-generation sequencing to identify single-nucleotide polymorphisms in the exons of these 11 genes in pools of 100 DNA samples of Finnish individuals with developmental dyslexia. Subsequent individual genotyping of those 100 individuals, and additional cases and controls from the Finnish and German populations, validated 92 out of 111 …

Nonsynonymous substitutionCandidate genemedicine.medical_specialtyShort CommunicationGenomicsS100 Calcium Binding Protein beta SubunitBiologyPolymorphism Single NucleotideDyslexia03 medical and health sciences0302 clinical medicineDCDC2Molecular geneticssingle-nucleotide polymorphismsmedicineHumansGenetic Predisposition to DiseasegeneticsGenotypingGenetic Association StudiesGenetics (clinical)ta515030304 developmental biologyGenetics0303 health sciencesperinnöllisyystiedeta1184DyslexiaSequence Analysis DNAmedicine.diseasedevelopmental dyslexiata3124Genetic epidemiologyCase-Control Studiesindividual genotypingMicrotubule-Associated Proteins030217 neurology & neurosurgeryJournal of Human Genetics
researchProduct

Variant GII.4 noroviruses in Italian children

2009

Objectives: Among human noroviruses (NoVs), a few genogroup II strains of genotype 4 (GII.4) are dominant worldwide. GII.4 NoVs evolve rapidly and in 2006 two new epidemic variants have been identified. To investigate the circulation of GII.4 NoV variants in Italy a sequence analysis was performed on NoV strains obtained from children hospitalized for sporadic viral gastroenteritis in Palermo. Methods: A total of 465 faecal specimens were collected from children (< 5 years) hospitalized from January 2005 to December 2006. The presence of NoVs was detected by RT-PCR using primers JV12/JV13, targeting the region A of the RNA-dependent RNA-polymerase (RdRp) gene. NoV strains were genotyped by …

NoroviruSettore MED/07 - Microbiologia E Microbiologia ClinicagenotypingItalySettore MED/17 - Malattie InfettiveGII.4 genotype
researchProduct

Low-cost method for obtaining medical rapid prototyping using desktop 3d printing : a novel technique for mandibular reconstruction planning

2017

Background Three-dimensional (3D) printing is relatively a new technology with clinical applications, which enable us to create rapid accurate prototype of the selected anatomic region, making it possible to plan complex surgery and pre-bend hardware for individual surgical cases. This study aimed to express our experience with the use of medical rapid prototype (MRP) of the maxillofacial region created by desktop 3D printer and its application in maxillofacial reconstructive surgeries. Material and methods Three patients with benign mandible tumors were included in this study after obtaining informed consent. All patient's maxillofacial CT scan data was processed by segmentation and isolat…

Novel techniqueRapid prototypingmedicine.medical_specialtyReconstructive surgerybusiness.industryComputer scienceResearch3D printing030206 dentistry:CIENCIAS MÉDICAS [UNESCO]Surgical planning03 medical and health sciences0302 clinical medicineSoftware030220 oncology & carcinogenesisComputer graphics (images)UNESCO::CIENCIAS MÉDICASmedicineMedical physicsSegmentationMandibular reconstructionOral SurgerybusinessGeneral Dentistry
researchProduct

Natural hybrids fromSaccharomyces cerevisiae,Saccharomyces bayanusandSaccharomyces kudriavzeviiin wine fermentations

2006

Several wine isolates of Saccharomyces were analysed for six molecular markers, five nuclear and one mitochondrial, and new natural interspecific hybrids were identified. The molecular characterization of these Saccharomyces hybrids was performed based on the restriction analysis of five nuclear genes ( CAT8 , CYR1 , GSY1 , MET6 and OPY1 , located in different chromosomes), the ribosomal region encompassing the 5.8S rRNA gene and the two internal transcribed spacers, and sequence analysis of the mitochondrial gene COX2 . This method allowed us to identify and characterize new hybrids between Saccharomyces cerevisiae and Saccharomyces kudriavzevii , between S. cerevisiae and Saccharomyces ba…

Nuclear geneGenes FungalSaccharomyces cerevisiaeSaccharomyces bayanusWineSaccharomyces cerevisiaeDNA MitochondrialApplied Microbiology and BiotechnologyMicrobiologySaccharomycesElectron Transport Complex IVSaccharomycesDNA Ribosomal SpacerDNA FungalPhylogenyWineFermentation in winemakingGeneticsbiologySaccharomyces eubayanusGeneral Medicinebiology.organism_classificationElectrophoresis Gel Pulsed-FieldRNA Ribosomal 5.8SKaryotypingFermentationHybridization GeneticPolymorphism Restriction Fragment LengthSaccharomyces kudriavzeviiFEMS Yeast Research
researchProduct

Defining Components in a MetaCASE Environment

2000

In this paper we describe how to improve method reusability in a metaCASE environment called MetaEdit+. The suggested component based approach helps unify design artefacts into components with explicit interfaces and meaningful context descriptions. We describe a method artefact from three perspectives: concept, content, and context. We create a component concept by using a hierarchical facet-based schema, and represent contextual relationship types by using definitional and reuse dependency, usage context, and implementation context links. This is the first attempt to explicitly define components into a metaCASE environment.

Object-oriented programmingDatabasebusiness.industryComputer scienceSoftware developmentSoftware prototypingReusecomputer.software_genreHuman–computer interactionSchema (psychology)Information systembusinesscomputerReusability
researchProduct

Study of Spanish grape mycobiota and ochratoxin A production by Isolates of Aspergillus tubingensis and other members of Aspergillus section Nigri.

2005

ABSTRACT The native mycobiota of five grape varieties grown in Spain has been studied. Four (Bobal, Tempranillo, Garnacha, and Monastrell) were red varieties and one (Moscatel) was white. The main fungal genera isolated were Alternaria , Cladosporium , and Aspergillus . The isolation frequency of Aspergillus spp. section Nigri in contaminated samples was 82%. Ochratoxin A (OTA) production was assessed using yeast extract-sucrose broth supplemented with 5% bee pollen. Cultures of 205 isolates from this section showed that 74.2% of Aspergillus carbonarius and 14.3% of Aspergillus tubingensis isolates produced OTA at levels ranging from 1.2 to 3,530 ng/ml and from 46.4 to 111.5 ng/ml, respecti…

Ochratoxin AMycobiotaMycologyApplied Microbiology and BiotechnologyPolymerase Chain ReactionMicrobiologychemistry.chemical_compoundDNA Ribosomal SpacerVitisFood scienceMycological Typing TechniquesOchratoxinAspergillusEcologybiologyAspergillus nigerGenes rRNAFungi imperfectibiology.organism_classificationOchratoxinsCulture MediaAspergilluschemistryAspergillus tubingensisSpainPolymorphism Restriction Fragment LengthFood ScienceBiotechnologyCladosporiumApplied and environmental microbiology
researchProduct

PSA Depletion Induces the Differentiation of Immature Neurons in the Piriform Cortex of Adult Mice

2021

Immature neurons are maintained in cortical regions of the adult mammalian brain. In rodents, many of these immature neurons can be identified in the piriform cortex based on their high expression of early neuronal markers, such as doublecortin (DCX) and the polysialylated form of the neural cell adhesion molecule (PSA-NCAM). This molecule plays critical roles in different neurodevelopmental events. Taking advantage of a DCX-CreERT2/Flox-EGFP reporter mice, we investigated the impact of targeted PSA enzymatic depletion in the piriform cortex on the fate of immature neurons. We report here that the removal of PSA accelerated the final development of immature neurons. This was revealed by a h…

Olfactory systemMaleDendritic spineDoublecortin ProteinGlycoside HydrolasesQH301-705.5PSA-NCAMneuronal precursorsNeural Cell Adhesion Molecule L1Piriform CortexSynaptic TransmissionCatalysisArticleImmunophenotypingInorganic ChemistryMiceneuronal maturationGenes ReporterdoublecortinPiriform cortexAnimalsPhysical and Theoretical ChemistryBiology (General)olfactory cortexMolecular BiologyQD1-999SpectroscopyNeuronsbiologyOrganic ChemistryCell DifferentiationGeneral MedicineAxon initial segmentComputer Science ApplicationsCell biologyDoublecortinChemistryNeuronal circuitsnervous systembiology.proteinSialic AcidsNeural cell adhesion moleculeNeuNBiomarkersInternational Journal of Molecular Sciences
researchProduct

Immunophenotype based on inflammatory cells, PD-1/PD-L1 signalling pathway and M2 macrophages predicts survival in gastric cancer

2020

Abstract Background Immune response against cancer has prognostic impact but its role in gastric cancer is poorly known. The aim of the study was to assess the prognostic significance of immune cell score (CD3+, CD8+), tumour immune escape (PD-L1, PD-1) and immune tolerance (Clever-1). Methods After exclusion of Epstein-Barr virus positive (n = 4) and microsatellite instable (n = 6) tumours, the study included 122 patients with GC undergoing D2 gastrectomy. CD3+ and CD8+ based ICS, PD-L1, PD-1 and Clever-1 expressions were evaluated. Differences in survival were examined using Cox regression adjusted for confounders. The primary outcome was 5-year survival. Results The 5-year overall surviv…

OncologyAdultMaleCancer Researchmedicine.medical_specialtyProgrammed Cell Death 1 ReceptorAdenocarcinomaArticleB7-H1 AntigenImmune toleranceImmunophenotyping03 medical and health sciences0302 clinical medicineImmunophenotypingImmune systemStomach NeoplasmsInternal medicinePD-L1medicineImmune ToleranceHumansAgedbiologyMolecular medicinebusiness.industryProportional hazards modelMacrophagesConfoundingImmunosurveillancemahasyöpäCancerennusteetMiddle Agedmedicine.diseaseOncologyimmuunivaste030220 oncology & carcinogenesisbiology.proteinsyöpätauditfenotyyppiFemaleTumor EscapebusinessCD8Signal TransductionBritish Journal of Cancer
researchProduct

Human papillomavirus genotype distribution in cervical cancer cases in Spain. Implications for prevention

2011

Objective. Human papillomavirus (HPV) genotype distribution in invasive cervical cancer (ICC) is critical to guide the introduction and to assess the impact of HPV prophylactic vaccines. This study aims to provide specific information for Spain. Methods. 1043 histological confirmed ICC cases diagnosed from 1940 to 2007 from six Spanish regions were assembled. HPV DNA detection was performed by SPF10 broad-spectrum PCR followed by deoxyribonucleic acid enzyme immunoassay and genotyping by reverse hybridization line probe assay (LiPA(25)) (version 1). Results. Of 1043 ICC cases, 904 were HPV DNA positive (adjusted prevalence: 89.1%). The eight most common types, in decreasing order, were HPV …

OncologyAdultmedicine.medical_specialtyInvasive cervical cancerGenotypeUterine Cervical NeoplasmsHPV vaccinesAdenocarcinomaAlphapapillomavirusInternal medicineGenotypemedicineHumansPapillomavirus VaccinesHuman papillomavirusGenotypingAgedGynecologyCervical cancerHuman papillomavirus 16HPV typesVaccinesHpv typesHuman papillomavirus 18business.industryHPV PositivePapillomavirus Infectionsvirus diseasesObstetrics and GynecologyTime trendsMiddle Agedmedicine.diseasefemale genital diseases and pregnancy complicationsOncologySpainCervical cancerFemalebusiness
researchProduct

Apolipoprotein E genotype does not influence the progression of multiple sclerosis

2003

OBJECTIVE: To investigate the association between apolipoprotein E (APOE) polymorphisms and the progression of MS. METHODS: We investigated 428 subjects affected by clinically defined MS, with a disease duration of at least three years. We collected data concerning the age at onset of MS, clinical type, disease duration and disability according to the expanded disability status scale (EDSS). We also calculated the progression index (PI) to evaluate disease progression. APOE genotyping and the -491 A/T polymorphism of the APOE promoter were determined. RESULTS: No association was observed between the APOE epsilon4 allele and clinical characteristics of our study population. We also investiga…

OncologyApolipoprotein EAdultMalemedicine.medical_specialtyMultiple SclerosisGenotypeAdolescentOdds Ratio; Polymorphism Genetic; Chi-Square Distribution; Humans; Disease Progression; Apolipoproteins E; Genotype; Multiple Sclerosis; Adult; Confidence Intervals; Adolescent; Statistics Nonparametric; Female; MalePopulationAPOE polymorphismBiologyStatistics NonparametricApolipoproteins EGeneticPolymorphism (computer science)Internal medicineGenotypeMultiple SclerosimedicineOdds RatioConfidence IntervalsHumansNonparametricPolymorphismeducationGenotypingAPOE promotereducation.field_of_studyExpanded Disability Status ScalePolymorphism GeneticChi-Square DistributionMS progressionStatisticsOdds ratioNeurologyImmunologyDisease ProgressionPopulation studylipids (amino acids peptides and proteins)FemaleSettore MED/26 - NeurologiaNeurology (clinical)Confidence IntervalHuman
researchProduct