Search results for "Data"

showing 10 items of 12992 documents

TCTN3 Mutations Cause Mohr-Majewski Syndrome

2012

Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in un…

AdolescentFoot Deformities CongenitalMolecular Sequence DataCiliopathiesJoubert syndromeYoung AdultFetusReportCerebellumGLI3medicineGeneticsHumansExomeHedgehog ProteinsGenetics(clinical)Sonic hedgehogChildExomeGenetics (clinical)Adaptor Proteins Signal TransducingCystic kidneyGeneticsBase SequencebiologyHomozygoteIntracellular Signaling Peptides and ProteinsMembrane ProteinsCiliary transition zoneSequence Analysis DNAOrofaciodigital Syndromesmedicine.diseaseCleft PalateCiliopathyPhenotypeMutationbiology.proteinApoptosis Regulatory ProteinsHand Deformities CongenitalSignal TransductionThe American Journal of Human Genetics
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Size discrepancy of apical bases and treatment success in angle Class III malocclusion.

2001

The aim of this retrospective clinical study was to measure the apical bases and determine their size relationship in Class III malocclusion cases before and after orthodontic treatment, in order to evaluate their significance for the treatment success. Maxillary and mandibular apical bases were measured on study models of 104 Class III cases treated by conventional orthodontics, using a specifically constructed conveyance apparatus, and related to each other as an index. Treatment success was quantitatively assessed as the percentage change of PAR scores obtained from the pretreatment and posttreatment study models. Statistically significant relationships were disclosed between the measure…

AdolescentOcclusal AdjustmentOrthodonticsClass iiiMandibleTreatment resultsOrthodontics CorrectiveRetrospective dataTooth ApexMaxillaMedicineHumansChildRetrospective StudiesOrthodonticsbusiness.industryClass iii malocclusionmedicine.diseasePrognosisModels DentalTreatment successMalocclusion Angle Class IIITreatment OutcomeData Interpretation StatisticalOral and maxillofacial surgeryOral SurgeryMalocclusionbusinessAngle class iiiJournal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie
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Adsorption Properties of Nax and Bax Zeolites: Correlation between Structural and Thermodynamic Results on Para- and Meta-xylene Adsorption

1996

A comparison is made between NaX and BaX adsorption properties starting from crystallographic data and thermodynamic measurements. Adsorption isotherms and differential adsorption heats of pure para- and meta-xylenes in NaX and BaX zeolites are interpreted in the light of crystallographic results.

AdsorptionChemistryMeta-xyleneCrystallographic dataPhysical chemistry
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Priming index of the Spanish word fragments from the Dasí, Soler, and Ruiz (2004) database

2007

Word-fragment completion is a frequently used test in implicit memory research. A database of 196 Spanish fragments was recently published (Dasi, Soler, & Ruiz, 2004) in which the fragments were described for indices, such as difficulty, familiarity, frequency, number of meanings, and so on (www.psychonomic.org/archive). In this work, a new index, thepriming index, is described for the same 196 fragments. This index is calculated for each fragment by subtracting the difficulty index (the proportion of correct completion when the fragment is not studied) from the proportion of correct completion when the fragment is studied, and it means the capacity of an item to be primed. In order to dete…

AdultAdolescentDatabaseAbstracting and IndexingComputer scienceExperimental and Cognitive Psychologycomputer.software_genreVocabularyDatabases as TopicArts and Humanities (miscellaneous)Index (publishing)Fragment (logic)MemoryResearch DesignSpainDevelopmental and Educational PsychologyHumansPsychology (miscellaneous)Implicit memorycomputerPriming (psychology)General PsychologyWord (group theory)Behavior Research Methods
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Invasive meningococcal disease in Italy: from analysis of national data to an evidence-based vaccination strategy

2020

Introduction. Invasive meningococcal disease (IMD) is one of the most severe vaccine-preventable diseases not yet under control. In Italy, although different anti-meningococcal vaccines are available, their offer among regions is heterogeneous. The aim of this study is to describe the epidemiology of IMD in Italy based on analysis of national surveillance data for 2011–2017 to optimize the vaccination strategy. Methods: IMD surveillance data from the Italian National Health Institute were analysed. Microsoft Excel was used to present trend analysis, stratifying by age and serogroups. Results: In Italy, during the period 2011–2017, the incidence of IMD increased from 0.25 cases/100,000 inhab…

AdultAdolescentDatabases FactualInvasive meningococcal diseasesEpidemiologyMeningococcal VaccinesNO03 medical and health sciencesYoung AdultInvasive meningococcal diseases • epidemiology • surveillance system • anti-meningococcal vaccination strategiesHumansChildSurveillance system0303 health sciencesEvidence-Based Medicine030306 microbiologyInvasive meningococcal diseases Epidemiology Surveillance system Anti-meningococcal vaccination strategiesIncidenceInvasive meningococcal diseaseInfantMiddle AgedMeningococcal InfectionsItalyChild PreschoolPopulation SurveillanceOriginal ArticleAnti-meningococcal vaccination strategiesanti-meningococcal vaccination strategies.Journal of Preventive Medicine and Hygiene
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Structural Covariance of Cortical Gyrification at Illness Onset in Treatment Resistance: A Longitudinal Study of First-Episode Psychoses

2021

AbstractTreatment resistance (TR) in patients with first-episode psychosis (FEP) is a major cause of disability and functional impairment, yet mechanisms underlying this severe disorder are poorly understood. As one view is that TR has neurodevelopmental roots, we investigated whether its emergence relates to disruptions in synchronized cortical maturation quantified using gyrification-based connectomes. Seventy patients with FEP evaluated at their first presentation to psychiatric services were followed up using clinical records for 4 years; of these, 17 (24.3%) met the definition of TR and 53 (75.7%) remained non-TR at 4 years. Structural MRI images were obtained within 5 weeks from first…

AdultAffective Disorders PsychoticMalePsychosisLongitudinal studymedicine.medical_specialtyAdolescentlongitudinalAcademicSubjects/MED00810treatment-resistantYoung Adult03 medical and health sciences0302 clinical medicineInternal medicinemedicineHumansLongitudinal Studiesfirst-episode psychosisGyrificationClozapineCerebral CortexFirst episodeclozapinebusiness.industryFunctional data analysisgyrificationmedicine.diseaseMagnetic Resonance Imaging030227 psychiatryschizophreniaPsychiatry and Mental healthPsychotic DisordersSchizophreniaConnectomeCardiologyFemaleNerve Netbusiness030217 neurology & neurosurgeryAntipsychotic AgentsFollow-Up StudiesRegular ArticlesMRImedicine.drugSchizophrenia Bulletin
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Accuracy and accommodation capability of a handheld autorefractor

2000

Purpose: To determine the accuracy of measurement by the Nikon Retinomax handheld autorefractor and its ability to relax accommodation. Setting: Pediatric Section, Department of Ophthalmology, University of Mainz, Germany. Methods: To perform a series of comparative measurements, autorefractor readings were obtained on healthy young adults (students) and on children aged 2 to 12 years. The autorefractor readings were compared with subjective refractions of the young adults and with cycloplegic retinoscopy of the children. Results: In adults, the accuracy of the handheld autorefractor measurements was comparable to that of conventional tabletop autorefractors. In children, the autorefractor …

AdultAgingmedicine.medical_specialtygenetic structuresOcular refractionRefraction OcularOcular physiologyReference ValuesOphthalmologymedicineHumansChildDioptreRetinoscopyElectronic Data Processingmedicine.diagnostic_testbusiness.industryVision TestsAutorefractorsAccommodation OcularReproducibility of ResultsCycloplegiaRefractive ErrorsSensory SystemsOphthalmologyAutorefractorChild PreschoolOptometrySurgerymedicine.symptombusinessAccommodationJournal of Cataract and Refractive Surgery
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The 9-O-acetylated disialosyl carbohydrate sequence of CDw60 is a marker on activated human B lymphocytes

1998

Gangliosides with a terminal 9-O-acetylated disialosyl group (CDw60 structures) show a restricted surface expression on human leukocytes. Hithereto, they have only been detected on subpopulations of human T lymphocytes. Using the defined CDw60 antibody UM4D4 and two new antibodies with preferential CDw60 activities, F6 and Z17, we demonstrate for the first time that CDw60 is an activation marker on human B lymphocytes. In vitro phorbol ester-stimulated human peripheral blood B lymphocytes as well as in vivo activated tonsillar B lymphocytes became CDw60 positive. CDw60 expression of these cells exceeds that of resting and activated T-lymphocytes.

AdultAntigens Differentiation T-Lymphocytemedicine.drug_classMolecular Sequence DataImmunologyLymphocyte ActivationMonoclonal antibodyStructure-Activity Relationshipchemistry.chemical_compoundAntigenAntigens CDPolysaccharidesIn vivomedicineHumansImmunology and AllergyStructure–activity relationshipB-LymphocytesbiologyAntibodies MonoclonalAcetylationMiddle AgedMolecular biologyIn vitroCarbohydrate SequenceBiochemistrychemistryAcetylationbiology.proteinPhorbolAntibodyBiomarkersImmunology Letters
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New Modes of Regulation for Health and Safety: Post-Enlargement Policy Perspectives for the European Union

2006

The recent joining of ten new member states to the European Union, eight of which are former communist countries, has reopened inherent tensions in current European Union (EU) policy-making on safety and health in the workplace. These spring from seemingly incompatible objectives; the need to ensure broad EU member state compliance with regulation, around agreed minimum standards through active regulatory enforcement, and the promotion of “softer” voluntary initiatives in the management of workplace risks and hazards in order to create “a culture of prevention.” The present EU strategy which ends in 2006, seeks to secure a balance between both sets of objectives. However, with respect to t…

AdultBaltic StatesEmploymentMaleRisk AssessmentEuropean studiesData Protection DirectiveRisk FactorsPolitical scienceEuropean integration050602 political science & public administrationAccidents OccupationalHumansSingle Euro Payments Areamedia_common.cataloged_instance0501 psychology and cognitive sciencesEuropean UnionEuropean unionOccupational Health050107 human factorsmedia_commonMarketingEuropean Union lawData CollectionHealth Policy05 social sciencesCommunity ParticipationGeneral MedicineFiscal union0506 political scienceEuropeOccupational DiseasesPolitical economyFemaleForecastingSoft lawNEW SOLUTIONS: A Journal of Environmental and Occupational Health Policy
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Autoreactive CD4+ LKM-specific and anticlonotypic T-cell responses in LKM-1 antibody-positive autoimmune hepatitis

1996

Peripheral blood mononuclear cells (PBMC) of patients with autoimmune hepatitis (AIH) and controls were studied for their proliferative response to six overlapping synthetic peptides covering the 33-amino acid immunodominant region of cytochrome P450IID6, the main target antigen of LKM-1 antibody-positive type II AIH. PBMC from 8 of 8 type II AIH patients (100%), 6 of 12 LKM-1 antibody-negative type I AIH patients (50%), but only 4 of 31 patients with chronic hepatitis C (12.9%) reacted with a 23-amino acid LKM peptide and mainly with a shorter 18-amino acid LKM peptide. Follow-up showed that LKM-specific T-cell responses decreased after immunosuppression had started. Fine specificity, HLA …

AdultCD4-Positive T-LymphocytesMaleAdolescentT-LymphocytesT cellMolecular Sequence DataAutoimmune hepatitisLymphocyte Activationmedicine.disease_causeEpitopeAutoimmune DiseasesHepatitisImmunophenotypingAutoimmunityImmunophenotypingImmune systemMicrosomesmedicineHumansInterferon gammaAmino Acid SequenceCells CulturedAgedAutoantibodiesHLA-D AntigensHepatologybiologyAntibodies MonoclonalMiddle Agedmedicine.diseasePeptide Fragmentsmedicine.anatomical_structureImmunologybiology.proteinCytokinesFemaleAntibodymedicine.drugHepatology
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