Search results for "I.2"

showing 10 items of 662 documents

Clinical features and follow-up in patients with 22q11.2 deletion syndrome

2014

Objective To investigate the clinical manifestations at diagnosis and during follow-up in patients with 22q11.2 deletion syndrome to better define the natural history of the disease. Study design A retrospective and prospective multicenter study was conducted with 228 patients in the context of the Italian Network for Primary Immunodeficiencies. Clinical diagnosis was confirmed by cytogenetic or molecular analysis. Results The cohort consisted of 112 males and 116 females; median age at diagnosis was 4 months (range 0 to 36 years 10 months). The diagnosis was made before 2 years of age in 71% of patients, predominantly related to the presence of heart anomalies and neonatal hypocalcemia. In…

MalePediatrics22q11.2 deletionDelayed DiagnosisTime FactorsChromosomes Human Pair 22Developmental Disabilitiesdigeorge syndromeSex FactorSeverity of Illness IndexRetrospective StudieDiGeorge syndromeEarly DiagnosiAge FactorProspective StudiesNeonatal hypocalcemiaProspective cohort studyChildmedicine.diagnostic_testDelayed Diagnosi22q11.2 deletion; Primary immune disordersAge Factorsdel 22qMIMAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease ProgressionChild PreschoolCohortDisease ProgressionPrimary immune disordersFemaleAbnormalitiesMultipleAbnormalities Multiple; Adolescent; Adult; Age Factors; Child; Child Preschool; Chromosomes Human Pair 22; Delayed Diagnosis; Developmental Disabilities; DiGeorge Syndrome; Early Diagnosis; Female; Follow-Up Studies; Genetic Testing; Humans; Infant; Infant Newborn; Male; Monitoring Physiologic; Prospective Studies; Retrospective Studies; Risk Assessment; Severity of Illness Index; Sex Factors; Time Factors; Young Adult; Disease Progression; Pediatrics Perinatology and Child HealthHumanAdultmedicine.medical_specialtyTime FactorAdolescentMonitoringDevelopmental DisabilitieItalian Association of Pediatric Haematology and OncologyContext (language use)Risk AssessmentChromosomesFollow-Up StudieYoung AdultSex FactorsSeverity of illnessmedicineDiGeorge SyndromeHumansAbnormalities MultipleGenetic Testing22q11DS; 22q11.2 deletion syndrome; AIEOP; Italian Association of Pediatric Haematology and Oncology; MIM; Mendelian Inheritance in Man22q11DSPreschoolPhysiologicdigeorge syndrome; del 22qGenetic testingMonitoring PhysiologicRetrospective StudiesSettore MED/38 - Pediatria Generale e Specialisticabusiness.industryMendelian Inheritance in ManInfant NewbornInfantRetrospective cohort studymedicine.diseaseNewbornAIEOPProspective StudieEarly Diagnosis22q11.2 deletion syndromePediatrics Perinatology and Child HealthPair 22businessFollow-Up Studies
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Id2 leaves the chromatin of the E2F4-p130-controlled c-myc promoter during hepatocyte priming for liver regeneration

2006

The Id (inhibitor of DNA binding or inhibitor of differentiation) helix–loop–helix proteins are involved in the regulation of cell growth, differentiation and cancer. The fact that the molecular mechanisms of liver regeneration are not completely understood prompted us to study the fate of Id2 in proliferating liver. Id2 increases in liver regeneration after partial hepatectomy, following the early induction of its gene. Co-immunoprecipitation shows that Id2 forms a complex with E2F4, p130 and mSin3A in quiescent liver and all these components are present at the c-myc promoter as shown using ChIP (chromatin immunoprecipitation). Activation of c-myc during hepatocyte priming (G0–G1 transitio…

MalePriming (immunology)E2F4 Transcription FactorId2Cell cycleBiologyBiochemistryProto-Oncogene Proteins c-mycE2FmedicineAnimalsHistone deacetylaseRats WistarPromoter Regions GeneticE2FMolecular BiologyE2F4Inhibitor of Differentiation Protein 2Cell BiologyMolecular biologyChromatinLiver regenerationLiver RegenerationRatsSpecific Pathogen-Free OrganismsUp-RegulationChromatinC-mycmedicine.anatomical_structureGene Expression RegulationHepatocyteHepatocytesLiver regenerationHistone deacetylaseCarrier ProteinsChromatin immunoprecipitationResearch Article
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Role(s) of the 5-HT2C receptor in the development of maximal dentate activation in the hippocampus of anesthetized rats.

2014

Aims: Substantial evidence indicates that 5-HT2C receptors are involved in the control of neuronal network excitability and in seizure pathophysiology. Here, we have addressed the relatively unexplored relationship between temporal lobe epilepsy (TLE), the most frequent type of intractable epilepsy, and 5-HT2CRs. Methods: In this study, we investigated this issue using a model of partial complex (limbic) seizures in urethane-anesthetized rat, based on the phenomenon of maximal dentate activation (MDA) using 5-HT2C compounds, electrophysiology, immunohistochemistry, and western blotting techniques. Results: The 5-HT2C agonists mCPP (1 mg/kg, i.p) and lorcaserin (3 mg/kg, i.p), but not RO60-0…

MaleSerotonin receptorsmedicine.medical_specialtyGlutamate decarboxylaseDentate gyrus; Depression; GABA; Memory; Serotonergic2c drugs; Serotonin receptors; Temporal lobe epilepsyHippocampusHippocampal formationDentate gyruEpileptogenesisSettore BIO/09 - FisiologiaHippocampusDentate gyrus; Depression; GABA; Memory;LorcaserinRats Sprague-DawleySerotonergic 2c drugGABAEpilepsyMemoryDentate gyrus; Depression; GABA; Memory; Serotonin receptors; Temporal lobe epilepsyPhysiology (medical)Internal medicinemedicineReceptor Serotonin 5-HT2CAnimalsDentate gyrusPharmacology (medical)Serotonin receptorTemporal lobe epilepsyPharmacologyDepressionChemistryDentate gyrusDentate gyrus;Depression; GABA; Memory; Serotonergic2c drugs; Serotonin receptors; Temporal lobe epilepsyOriginal Articlesmedicine.diseaseRats5-HT2C receptorPsychiatry and Mental healthEndocrinologyDepression MentalEpilepsy Temporal LobeDentate GyrusSerotonergic2c drugAnesthetics IntravenousSerotonin 5-HT2 Receptor Agonistsmedicine.drug
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Relationship between the Clinical Frailty Scale and short-term mortality in patients ≥ 80 years old acutely admitted to the ICU: a prospective cohort…

2021

Abstract Background The Clinical Frailty Scale (CFS) is frequently used to measure frailty in critically ill adults. There is wide variation in the approach to analysing the relationship between the CFS score and mortality after admission to the ICU. This study aimed to evaluate the influence of modelling approach on the association between the CFS score and short-term mortality and quantify the prognostic value of frailty in this context. Methods We analysed data from two multicentre prospective cohort studies which enrolled intensive care unit patients ≥ 80 years old in 26 countries. The primary outcome was mortality within 30-days from admission to the ICU. Logistic regression models for…

MaleShort term mortalityCritical Care and Intensive Care MedicineCohort Studies0302 clinical medicinekwetsbaarheidMedicine and Health Sciences80 and overMedicine610 Medicine & healthProspective cohort studyCorrelation of Data11 Medical and Health SciencesAged 80 and overOUTCOMESIntensive care unitsFrailtyVIP1Aged&nbspMedical emergencies. Critical care. Intensive care. First aidScale (social sciences)Femaleprospectief onderzoekLife Sciences & BiomedicineCRITICALLY-ILL PATIENTS 80 and overStudy groupsmedicine.medical_specialtyAnestesi och intensivvård80 jaar en ouder610 Medicine & healthINTENSIVE-CAREBED AVAILABILITYNO03 medical and health sciencesCritical Care MedicineIntensive caresterfteGeneral & Internal MedicineHumansIntensive care units; Aged; 80 and over; Frailty; Prospective studies; MortalityIn patientddc:610Aged 80 and over; Frailty; Intensive care units; Mortality; Prospective studies; Aged 80 and over; Cohort Studies; Correlation of Data; Female; Frailty; Humans; Intensive Care Units; Logistic Models; Male; Mortality; Prospective StudiesMortalityAgedScience & TechnologyAnesthesiology and Intensive Carebusiness.industryRC86-88.9Research030208 emergency & critical care medicineADULTSAged 80 and over; Frailty; Intensive care units; Mortality; Prospective studies;Emergency & Critical Care MedicineLogistic Models030228 respiratory systemintensivecareafdelingenAged 80 and overCritical illnessEmergency medicineVIP2 study group&nbspCRITICAL ILLNESSbusinessProspective studies
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Immunoproteasome LMP2 60HH Variant Alters MBP Epitope Generation and Reduces the Risk to Develop Multiple Sclerosis in Italian Female Population

2010

BackgroundAlbeit several studies pointed out the pivotal role that CD4+T cells have in Multiple Sclerosis, the CD8+ T cells involvement in the pathology is still in its early phases of investigation. Proteasome degradation is the key step in the production of MHC class I-restricted epitopes and therefore its activity could be an important element in the activation and regulation of autoreactive CD8+ T cells in Multiple Sclerosis.Methodology/principal findingsImmunoproteasomes and PA28-alphabeta regulator are present in MS affected brain area and accumulated in plaques. They are expressed in cell types supposed to be involved in MS development such as neurons, endothelial cells, oligodendroc…

MaleT cells proteasomes multiple sclerosis parietal lobeMuscle ProteinsImmunoproteasomeEpitopeEpitopesGene FrequencyRisk FactorsCytotoxic T cellFunding: This work was financed in part by the grant Giovani Ricercatori 2007 from Italian Ministry of Health to MM DG and FMB by a grant from the European Commission Integrated Project PROTEOMAGE (FP6) to CF by the finalized projects of Fondazione Italiana Sclerosi Multipla (FISM) cod. 2003/R26 and BioPharmaNet to CF and 2002/R/40 and 2005/R/10 2008/R/11 (Genoa) to SD'A by the University of Bologna (FRO) to MPF by the Regione Piemonte (Ricerca Sanitaria Finalizzata Project and Ricerca Sanitaria Applicata-CIPE Project) to SD'A by Associazione Amici del Centro Dino Ferrari and IRCCS Ospedale Maggiore Policlinico Milano to DG and by the grants Sonderforschungsbereich (SFB-507 SFB-421) to PMK and US the grants TR43 and Neurocure to PMK. MM benefited from the A.V. Humboldt PostDoc fellowship. The funders had no role in study design data collection and analysis decision to publish or preparation of the manuscript.MultidisciplinaryMicrogliaQRBrainMiddle AgedImmunohistochemistryCysteine EndopeptidasesOligodendrogliamedicine.anatomical_structureItalyImmunoproteasome; multiple sclerosis; italian populationmultiple sclerosiImmunology/Antigen Processing and RecognitionMedicineFemaleMicrogliaNeuroscience/Neurobiology of Disease and RegenerationResearch ArticleProtein BindingAdultProteasome Endopeptidase ComplexMultiple SclerosisGenotypeScienceMolecular Sequence DataImmunology/AutoimmunityBiologySex FactorsMHC class IHLA-A2 AntigenmedicineHumansAmino Acid SequenceAlleleHLA-A AntigensMultiple sclerosisMacrophagesMyelin Basic Proteinmedicine.diseaseMyelin basic proteinImmunologybiology.proteinitalian populationCD8PLoS ONE
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

2019

AMPA receptors (AMPARs) are tetrameric ligand-gated channels made up of combinations of GluA1-4 subunits encoded by GRIA1-4 genes. GluA2 has an especially important role because, following post-transcriptional editing at the Q607 site, it renders heteromultimeric AMPARs Ca2+-impermeable, with a linear relationship between current and trans-membrane voltage. Here, we report heterozygous de novo GRIA2 mutations in 28 unrelated patients with intellectual disability (ID) and neurodevelopmental abnormalities including autism spectrum disorder (ASD), Rett syndrome-like features, and seizures or developmental epileptic encephalopathy (DEE). In functional expression studies, mutations lead to a dec…

Male[SDV.GEN] Life Sciences [q-bio]/GeneticsIon channels in the nervous systemCohort Studiesfluids and secretionsLoss of Function MutationReceptorsAMPAAMPA receptorlcsh:ScienceChildreproductive and urinary physiologyAMPA receptor GluA2 neurodevelopmental disorders autism spectrum disorder glutamatergic synaptic transmission GRIA2neurodevelopmental disordersDevelopmental disordersQNeurodevelopmental disordersBrainMagnetic Resonance ImagingSettore MED/26 - NEUROLOGIAGluA2Child PreschoolFemaleAdultHeterozygoteAdolescentScienceautism spectrum disorderArticleYoung Adult[SDV.MHEP.PED] Life Sciences [q-bio]/Human health and pathology/PediatricsMESH: Intellectual Disability/genetics; Neurodevelopmental Disorders/genetics; Receptors AMPA/genetics; HeterozygoteIntellectual Disabilitymental disordersAdolescent; Adult; Brain; Child; Child Preschool; Cohort Studies; Female; Heterozygote; Humans; Infant; Intellectual Disability; Loss of Function Mutation; Magnetic Resonance Imaging; Male; Neurodevelopmental Disorders; Receptors AMPA; Young AdultHumansReceptors AMPAGRIA2PreschoolIon channel in the nervous system Developmental disorders Synaptic development NG sequencing[SDV.GEN]Life Sciences [q-bio]/Genetics[SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatricsglutamatergic synaptic transmission[SCCO.NEUR]Cognitive science/Neuroscience[SCCO.NEUR] Cognitive science/NeuroscienceInfantNG sequencingSynaptic developmentIon channel in the nervous systemNext-generation sequencinglcsh:Q
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Novel association of the obesity risk-allele near Fas Apoptotic Inhibitory Molecule 2 (FAIM2) gene with heart rate and study of its effects on myocar…

2014

[Background] The Fas apoptotic pathway has been implicated in type 2 diabetes and cardiovascular disease. Although a polymorphism (rs7138803; G > A) near the Fas apoptotic inhibitory molecule 2 (FAIM2) locus has been related to obesity, its association with other cardiovascular risk factors and disease remains uncertain.

MalealelosEndocrinology Diabetes and MetabolismhumanosLOCIMyocardial Infarctionproteínas reguladoras de la apoptosisApoptosisType 2 diabetesVARIANTSDiet Mediterraneanestudios de seguimientoCoronary artery diseaseClinical trialsRisk FactorsMyocardial infarctionLongitudinal Studiesmediana edadOriginal Investigationeducation.field_of_studyancianoDiabetisdietaHàbits alimentarisCAUSE MORTALITYDiabetesSOLUBLE FASMiddle Agedestudios de asociación genéticaMEDITERRANEAN DIETCARDIOVASCULAR-DISEASECORONARY-ARTERY-DISEASEObesitatFemaleCardiology and Cardiovascular Medicinemedicine.medical_specialtyFood habitsPopulationHeart rateproteínas de membranasMediterranean cookingDiabetes mellitusInternal medicineCuina mediterràniamedicineDiabetes MellitusHumansfactores de riesgoJAPANESE POPULATIONGenetic Predisposition to DiseaseObesityGENOME-WIDE ASSOCIATIONeducationobesidadAllelesGenetic Association Studiesinfarto de miocardioAgedPolymorphism Geneticbusiness.industryMembrane Proteinspredisposición genética a la enfermedadmedicine.diseaseObesityFAIM2DietBODY-MASS INDEXInfart de miocardiMyocardial infarctionEndocrinologyBlood pressureDiabetes Mellitus Type 2frecuencia cardíacaestudios longitudinalesbusinessApoptosis Regulatory ProteinsBody mass indexFollow-Up StudiesAssaigs clínics
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Activation of a ΔFOSB dependent gene expression pattern in the dorsolateral prefrontal cortex of patients with major depressive disorder

2010

Abstract Background A ΔFOSB mediated transcriptional response in the nucleus accumbens (NAc) is induced by chronic social stress in rodent and a 50% down-regulation of ΔFOSB has been also reported in the NAc of eight depressed subjects. To evaluate the role of ΔFOSB in the prefrontal cortex which is critically involved in negative cognitive bias associated with major depressive disorder (MDD) we have quantified the mRNA levels of ΔFOSB and of five of its major target genes in the Brodmann area 46 from 24 patients with MDD (11 with psychotic symptoms) and 12 controls. Method Expression of the six genes has been quantified by a real-time quantitative PCR method: ΔFOSB , GRIA2 (encoding the Gl…

Malemedicine.medical_specialtyDown-RegulationGene ExpressionPrefrontal CortexNerve Tissue ProteinsAMPA receptorNucleus accumbensNucleus AccumbensInternal medicineBrodmann area 46medicineHumansReceptors AMPAGRIA2Prefrontal cortexAgedSecretogranin IIIDepressive DisorderDepressive Disorder MajorbiologyDepressionMiddle AgedAntidepressive AgentsDorsolateral prefrontal cortexPsychiatry and Mental healthClinical PsychologyEndocrinologymedicine.anatomical_structurePCP4Case-Control Studiesbiology.proteinFemalePsychologyProto-Oncogene Proteins c-fosNeuroscienceJournal of Affective Disorders
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Genomic medicine reaches HCV-related liver transplantation: Hopes and clinical and public health implications

2011

Malemedicine.medical_specialtymedicine.medical_treatmentIL28BOLTLiver transplantationAntiviral therapyBioinformaticsHepatitismedicineHumansGenomic medicineHepatitisHepatologybusiness.industryInterleukinsPublic healthAntiviral therapyHepatitis C Chronicmedicine.diseaseLiver TransplantationImmunologyHCVInterferonFemaleInterferonsbusiness
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Heterogeneous photocatalytic aqueous succinic acid formation from maleic acid reduction

2022

This study reports the anaerobic reduction of maleic acid to succinic acid in aqueous dispersion of different TiO2 based photocatalysts. Some home prepared and commercial solids containing different polymorphic phases of TiO2 and loaded with Pt and Ru were compared at different acidic pHs. The aim of the work was to verify the feasibility of the process and to determine the best samples and the optimal experimental conditions of the reaction. The best selectivity towards succinic acid was 23.2 % at 70 % of maleic acid conversion. Fumaric acid was also formed as another high added value compound, and its quantity was related to the experimental conditions and the photocatalyst used.

Maleic acid reductionSettore ING-IND/24 - Principi Di Ingegneria ChimicaSuccinic acid productionHigh added value chemicalsGeneral Chemical EngineeringEnvironmental ChemistryTiO2General ChemistryPhotocatalytic synthesisIndustrial and Manufacturing Engineering
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