Search results for "IPT"

showing 10 items of 6114 documents

Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune-polyendocrinopathy-candidiasis-ectoderma…

2009

Summary Objective   Autoimmune-polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare syndrome characterized by chronic candidiasis, chronic hypoparathyroidism and Addison's disease. APECED has been associated with mutations in autoimmune regulator (AIRE) gene. Our aim is to perform a genetic analysis of the AIRE gene in Italian APECED patients and in their relatives. Design  AIRE mutations were determined by DNA sequencing in all subjects. Patients were tested for clinical autoimmune or non-autoimmune diseases, or for organ and non-organ specific autoantibodies. Patients   A total of 24 Italian patients with APECED (15 from the Venetian region, 2 from Southern-Tyrol, 4 from…

AdultMaleHeterozygotemedicine.medical_specialtyanimal structuresAdolescentHypoparathyroidismEndocrinology Diabetes and MetabolismGene mutationmedicine.disease_causeCompound heterozygositySettore MED/13 - EndocrinologiaCohort StudiesLoss of heterozygosityYoung AdultEndocrinologyAddison DiseaseInternal medicinemedicineHumansChildPolyendocrinopathies AutoimmuneAgedGeneticsMutationGenetic heterogeneitybusiness.industryHomozygoteCandidiasisAutoantibodyAutoimmune polyendocrinopathyMiddle AgedAutoimmune regulatorEndocrinologyItalyCase-Control StudiesMutationAPS1 AIRE APECEDFemalebusinessTranscription Factors
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Effect of Age and Lipoperoxidation in Rat and Human Adipose Tissue-Derived Stem Cells

2020

A wide range of clinical applications in regenerative medicine were opened decades ago with the discovery of adult stem cells. Highly promising adult stem cells are mesenchymal stem/stromal cells derived from adipose tissue (ADSCs), primarily because of their abundance and accessibility. These cells have multipotent properties and have been used extensively to carry out autologous transplants. However, the biology of these cells is not entirely understood. Among other factors, the regeneration capacity of these cells will depend on both their capacity of proliferation/differentiation and the robustness of the biochemical pathways that allow them to survive under adverse conditions like thos…

AdultMaleHomeobox protein NANOGAgingTime FactorsStromal cellArticle SubjectApoptosisBiologyRegenerative MedicineBiochemistryRegenerative medicineCell therapyAMP-Activated Protein Kinase KinasesPeptide Elongation Factor 2Sirtuin 1SOX2AnimalsHumansRats WistarLipoperoxidation.Cell ProliferationQH573-671SOXB1 Transcription FactorsStem CellsMesenchymal stem cellAge FactorsCell DifferentiationMesenchymal Stem CellsNanog Homeobox ProteinCell BiologyGeneral MedicineMiddle AgedRatsCell biologyOxidative StressAdipose TissueageFemaleLipid PeroxidationStem cellCytologyProtein KinasesResearch ArticleHeLa CellsAdult stem cell
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Spanish Version of the Time Management Behavior Questionnaire for University Students

2012

The main objective of the study is to analyze the psychometric properties and predictive capacity on academic performance in university contexts of a Spanish adaptation of the Time Management Behavior Questionnaire. The scale was applied to 462 students newly admitted at the Universitat de València in the 2006-2007 school year. The analyses performed made it possible to reproduce the factorial structure of the original version of the questionnaire with slight modifications in the ascription of various ítems. The underlying factorial structure includes four interrelated dimensions (Establishing objectives and priorities, Time management tools, Perception of time control and Preference for di…

AdultMaleLinguistics and LanguageTime FactorsPsychometricsUniversitiesApplied psychologyLanguage and LinguisticsYoung AdultAscriptionSurveys and QuestionnairesMultiple time dimensionsHumansTime managementStudentsSelf-regulated learningGeneral PsychologyReliability (statistics)Reproducibility of ResultsTime ManagementConvergent validitySpainScale (social sciences)WorkforceWorkforceFemalePsychologySocial psychologyThe Spanish journal of psychology
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Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes

2012

One mechanism by which disease-associated DNA variation can alter disease risk is altering gene expression. However, linkage disequilibrium (LD) between variants, mostly single-nucleotide polymorphisms (SNPs), means it is not sufficient to show that a particular variant associates with both disease and expression, as there could be two distinct causal variants in LD. Here, we describe a formal statistical test of colocalization and apply it to type 1 diabetes (T1D)-associated regions identified mostly through genome-wide association studies and expression quantitative trait loci (eQTLs) discovered in a recently determined large monocyte expression data set from the Gutenberg Health Study (1…

AdultMaleLinkage disequilibriumGenotypeQuantitative Trait LociSingle-nucleotide polymorphismGenome-wide association studyQuantitative trait locusBiologyPolymorphism Single NucleotideLinkage DisequilibriumMonocytes03 medical and health sciences0302 clinical medicineRisk FactorsGeneticsHumansGenetic Predisposition to DiseaseMolecular BiologyGeneGenetics (clinical)Aged030304 developmental biologyGenetic associationGenetics0303 health sciencesModels GeneticAssociation Studies ArticlesColocalizationGeneral MedicineMiddle AgedDiabetes Mellitus Type 1Expression quantitative trait lociFemaleTranscriptomeAlgorithms030217 neurology & neurosurgeryGenome-Wide Association StudyHuman Molecular Genetics
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Translocation (X;18) in a Biphasic Synovial Sarcoma with Morphologic Features of Neural Differentiation

1998

The authors report a recurred neoplasm showing distinctive histologic, immunophenotypic, and ultrastructural features characteristic of biphasic synovial sarcoma with neural differentiation. The features include areas with a growth pattern of densely packed spindle cells in irregularly intersecting, broad fascicles, diffuse vimentin and HBA 71 immunoreactivity, expression of S-100 protein, and other neural markers. Moreover, areas with glandular structures and cellular expression of cytokeratin and epithelial membrane antigen were noted. Additionally, areas of neural-like growth pattern were positive for neuron-specific enolase, HNK-1, and protein gene product 9.5. Furthermore, cytogenetic …

AdultMaleLung NeoplasmsX ChromosomeBiphasic Synovial SarcomaEnolaseSoft Tissue NeoplasmsChromosomal translocationVimentinPolymerase Chain ReactionTranslocation GeneticImmunophenotypingPathology and Forensic MedicineGene productSarcoma SynovialCytokeratinTumor Cells CulturedmedicineHumansMolecular BiologyIn Situ Hybridization FluorescenceNeuronsmedicine.diagnostic_testbiologyChemistryCell DifferentiationPatellaCell BiologyMolecular biologyReverse transcription polymerase chain reactionKaryotypingbiology.proteinChromosomes Human Pair 18Fluorescence in situ hybridizationDiagnostic Molecular Pathology
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Comparison of RNA-seq and microarray-based models for clinical endpoint prediction

2015

Background Gene expression profiling is being widely applied in cancer research to identify biomarkers for clinical endpoint prediction. Since RNA-seq provides a powerful tool for transcriptome-based applications beyond the limitations of microarrays, we sought to systematically evaluate the performance of RNA-seq-based and microarray-based classifiers in this MAQC-III/SEQC study for clinical endpoint prediction using neuroblastoma as a model. Results We generate gene expression profiles from 498 primary neuroblastomas using both RNA-seq and 44 k microarrays. Characterization of the neuroblastoma transcriptome by RNA-seq reveals that more than 48,000 genes and 200,000 transcripts are being …

AdultMaleMicroarrayAdolescentEndpoint DeterminationNEUROBLASTOMA PATIENTSgenetic processesRNA-SeqBiologyBioinformaticsRISK STRATIFICATIONTranscriptomeNeuroblastomaYoung AdultREPRODUCIBILITYClinical endpointTumor Cells CulturedBREAST-CANCERHumansnatural sciencesTRANSCRIPTOMEChildGENE-EXPRESSIONOligonucleotide Array Sequence AnalysisSettore BIO/11 - BIOLOGIA MOLECOLAREEXPRESSION-BASED CLASSIFICATIONModels GeneticSequence Analysis RNAGene Expression ProfilingResearchSIGNATUREInfant NewbornBiology and Life SciencesInfantHuman genetics3. Good healthPROSTATE-CANCERGene expression profilingDIFFERENTIATIONChild PreschoolEndpoint DeterminationFemaleDNA microarray
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The transcriptome of spermatozoa used in homologous intrauterine insemination varies considerably between samples that achieve pregnancy and those th…

2009

Objective To differentiate transcripts' expression in the sperm from patients who achieved pregnancy in their first IUI cycle from those who did not. Basic sperm analysis is limited to forecasting pregnancies by means of assisted reproduction. New assays, such as microarray analysis, are potential predictive tools for this purpose. Design Nested case-control study. Setting University-affiliated private setting. Patient(s) Twenty sperm samples were obtained from infertile males undergoing their first IUI cycle with healthy partners. Sperm samples with which pregnancy was achieved (P; n=10) and those with which it was not achieved (NP; n=10) were identified and their respective messenger RNA …

AdultMaleMicroarrayPregnancy Ratemedia_common.quotation_subjectmedicine.medical_treatmentSemenBiologyTranscriptomeAndrologyPregnancymedicineHumansInfertility Malemedia_commonInsemination Artificial HomologousOligonucleotide Array Sequence AnalysisPregnancyArtificial inseminationGene Expression ProfilingUterusObstetrics and Gynecologymedicine.diseaseSpermSpermatozoaSemen AnalysisReproductive MedicineGene Expression RegulationIn uteroCase-Control StudiesFertilizationFemaleReproductionFertility and sterility
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Diagnostic significance of SARS-CoV-2 IgM positive/IgG negative antibody profile in symptomatic patients with suspected COVID-19 testing negative by …

2020

An outbreak of new coronavirus SARS-CoV-2 was occurred in Wuhan, China and rapidly spread to other cities and nations. The standard diagnostic approach that widely adopted in the clinic is nucleic acid detection by real-time RT-PCR. However, the false-negative rate of the technique is unneglectable and serological methods are urgently warranted. Here, we presented the colloidal gold-based immunochromatographic (ICG) strip targeting viral IgM or IgG antibody and compared it with real-time RT-PCR. The sensitivity of ICG assay with IgM and IgG combinatorial detection in nucleic acid confirmed cases were 11.1%, 92.9% and 96.8% at the early stage (1-7 days after onset), intermediate stage (8-14 …

AdultMaleMicrobiology (medical)2019-20 coronavirus outbreakCoronavirus disease 2019 (COVID-19)Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)Pneumonia ViralNegative antibodyReal-Time Polymerase Chain ReactionAntibodies ViralArticleImmunoglobulin GBetacoronavirusYoung AdultCOVID-19 TestingHumansMedicineSerologic Testsskin and connective tissue diseasesPandemicsAgedAged 80 and overImmunoassaybiologyReverse Transcriptase Polymerase Chain ReactionSARS-CoV-2business.industryfungiCOVID-19Middle AgedVirologybody regionsInfectious DiseasesReal-time polymerase chain reactionImmunoglobulin MImmunoglobulin MImmunoglobulin Gbiology.proteinFemaleAntibodyCoronavirus InfectionsbusinessJournal of Infection
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Physical activity and quality of cardiopulmonary resuscitation: A secondary analysis of the MANI-CPR trial

2021

Abstract Introduction The association between the level of physical activity and quality of cardio-pulmonary resuscitation (CPR) performed by laypeople is unclear. The aim of this study was to evaluate the associations between physical activity level and laypeople performance during an eight-minute scenario of CPR. Materials and methods This study was a secondary analysis of the MANI-CPR Trial. The entire cohort of participants was grouped based on the level of physical activity assessed using the International Physical Activity Questionnaire (IPAQ) into a “low-moderate” level group and a “high” level group. Descriptive statistics were used for unadjusted analysis and multivariate logistic …

AdultMaleMultivariate statisticsResuscitationmedicine.medical_specialtymedicine.medical_treatmentManikinsSurveys and QuestionnairesLinear regressionmedicineHumansCardiopulmonary resuscitationExerciseDescriptive statisticsPhysical activitybusiness.industryGeneral MedicineCardiopulmonary ResuscitationPhysical activity levelTest (assessment)Muscle FatigueCohortOHCAEmergency MedicinePhysical therapyCPRFemalebusinessThe American Journal of Emergency Medicine
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Extremely High Mutation Rate of HIV-1 In Vivo.

2015

Rates of spontaneous mutation critically determine the genetic diversity and evolution of RNA viruses. Although these rates have been characterized in vitro and in cell culture models, they have seldom been determined in vivo for human viruses. Here, we use the intrapatient frequency of premature stop codons to quantify the HIV-1 genome-wide rate of spontaneous mutation in DNA sequences from peripheral blood mononuclear cells. This reveals an extremely high mutation rate of (4.1 ± 1.7) × 10−3 per base per cell, the highest reported for any biological entity. Sequencing of plasma-derived sequences yielded a mutation frequency 44 times lower, indicating that a large fraction of viral genomes …

AdultMaleMutation rateSequence analysisQH301-705.5Nonsense mutationHIV InfectionsBiologyGeneral Biochemistry Genetics and Molecular BiologyYoung AdultMutation RateHumansMutation frequencyBiology (General)GeneticsGeneral Immunology and MicrobiologySequence Analysis RNAGeneral NeuroscienceMiddle AgedVirologyReverse transcriptaseStop codon3. Good healthMutation (genetic algorithm)Disease ProgressionSynopsisHIV-1FemaleGeneral Agricultural and Biological SciencesViral loadResearch ArticlePLoS Biology
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