Search results for "PD"

showing 10 items of 1971 documents

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

2017

ObjectiveTo validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics.Design, setting and outcome measuresEUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks’ gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005–2009, and infant mortality (deaths of live births at age <1 year) compared with the WHO Mortality …

0301 basic medicineMalePediatrics030105 genetics & heredityInfant DeathGlobal Burden of Disease0302 clinical medicineCongenital anomaly ; DALY ; Global Burden of Disease ; YLL ; mortality.PregnancyPrenatal DiagnosisYLLEpidemiologyInfant MortalityPrevalenceMedicineEPIDEMIOLOGY030212 general & internal medicineRegistries1506DOWN-SYNDROMEPOPULATIONeducation.field_of_studyDALYAnomaly (natural sciences)Pregnancy OutcomeObstetrics and GynecologyGestational ageGeneral MedicineStillbirthUPDATED SYSTEMATIC ANALYSISPREVALENCEEuropeFetal Mortality/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleOriginal ArticleCHILD-MORTALITYAdultCOUNTRIESmedicine.medical_specialtyPopulationGestational AgeCongenital Abnormalities03 medical and health sciencesSDG 3 - Good Health and Well-beingJournal ArticleHumansCongenital anomalyAbortion Induced/statistics & numerical data; Adult; Congenital Abnormalities/diagnosis; Congenital Abnormalities/epidemiology; Europe/epidemiology; Female; Fetal Death/prevention & control; Fetal Mortality; Gestational Age; Global Burden of Disease/methods; Global Burden of Disease/statistics & numerical data; Humans; Infant; Infant Death/prevention & control; Infant Mortality; Infant Newborn; Male; Pregnancy; Pregnancy Outcome/epidemiology; Prenatal Diagnosis/methods; Prenatal Diagnosis/statistics & numerical data; Prevalence; Registries/statistics & numerical data; Stillbirth/epidemiology; Congenital anomaly; DALY; Global Burden of Disease; YLL; mortalityeducationFetal DeathPregnancybusiness.industryInfant NewbornInfantAbortion InducedNATIONAL CAUSESmedicine.diseasemortalityTRENDSInfant mortalityChild mortalityYears of potential life lostPediatrics Perinatology and Child HealthbusinessPRIMARY PREVENTIONDemography
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Retinoblastoma Is Characterized by a Cold, CD8+ Cell Poor, PD-L1- Microenvironment, Which Turns Into Hot, CD8+ Cell Rich, PD-L1+ After Chemotherapy.

2021

Purpose To investigate the impact of chemotherapy (CHT) on human retinoblastoma (RB) tumor microenvironment (TME). Cases and Methods Ninety-four RBs were studied, including 44 primary RBs treated by upfront surgery (Group 1) and 50 primary RBs enucleated after CHT (CHT), either intra-arterial (IAC; Group 2, 33 cases) or systemic (S-CHT; Group 3, 17 cases). Conventional and multiplexed immunohistochemistry were performed to make quantitative comparisons among the three groups, for the following parameters: tumor-infiltrating inflammatory cells (TI-ICs); programmed cell death protein 1 (PD-1) positive TI-ICs; Ki67 proliferation index; gliosis; PD-1 ligand (PD-L1) protein expression; vessel nu…

0301 basic medicineMaleTime FactorsProliferation indexRetinal NeoplasmsProgrammed Cell Death 1 Receptorretinoblastoma; tumor microenvironment; chemotherapy; PD-1/PD-L1; multiplexed immunohistochemistry; B7-H1 Antigen; CD8-Positive T-Lymphocytes; Child Preschool; Female; Follow-Up Studies; Humans; Immunohistochemistry; Infant; Infant Newborn; Lymphocytes Tumor-Infiltrating; Male; Programmed Cell Death 1 Receptor; Retinal Neoplasms; Retinoblastoma; Retrospective Studies; Time Factors; Tumor MicroenvironmentCD8-Positive T-LymphocyteschemotherapyPD-1/PD-L1B7-H1 AntigenRetina03 medical and health sciencesretinoblastoma; tumor microenvironment chemotherapy PD-1/PD-L1 multiplexed immunohistochemistry0302 clinical medicineLymphocytes Tumor-InfiltratingPD-L1medicineTumor MicroenvironmentHumansLymphocytesTumor-InfiltratingChildPreschoolAnaplasiaRetrospective StudiesTumor microenvironmentbiologyRetinoblastomaChemistryInfant NewbornRetinoblastomaInfantGeneral Medicinemultiplexed immunohistochemistrymedicine.diseaseNewbornChemotherapy regimenImmunohistochemistry030104 developmental biologyGliosis030220 oncology & carcinogenesisChild Preschoolbiology.proteinCancer researchFemalemedicine.symptomCD8Follow-Up StudiesInvestigative ophthalmologyvisual science
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PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation

2019

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating sc…

0301 basic medicineMale[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyLOCAL TRANSLATIONMedizinmedicine.disease_causeDISEASEchemistry.chemical_compound0302 clinical medicinepolineuropathyCinètica enzimàticaGene Regulatory NetworksPyridoxal phosphateChildPyridoxal KinaseAdenosine triphosphate (ATP)Research ArticlesAged 80 and overMutationGene Regulatory NetworkPLASMAAutosomal recessive axonal polyneuropathyDisease gene identificationPyridoxal kinase3. Good healthSettore MED/26 - NEUROLOGIANeuropaties perifèriquesTreatment OutcomePolyneuropathieNeurologyChild PreschoolPyridoxal PhosphateRELIABILITYVitamin B ComplexFemaleLife Sciences & BiomedicinePolyneuropathyHumanResearch ArticleAdultAdolescentPDXKClinical NeurologyCHARCOT-MARIE-TOOTHCHARCOT-MARIE-TOOTH CMT NEUROPATHY SCORE LOCAL TRANSLATION DISEASE RELIABILITY; MECHANISMS DISCOVERY FRAMEWORK KINASE PLASMAMECHANISMS03 medical and health sciencesPolyneuropathiesAtrophy[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]KINASEmedicineHumansCMT NEUROPATHY SCOREPDXK mutationsPyridoxalDietary SupplementAgedPeripheral neuropathiesScience & Technology[SCCO.NEUR]Cognitive science/NeuroscienceEnzyme kineticsNeurosciencesFRAMEWORKmedicine.diseaseMolecular biology030104 developmental biologychemistryDISCOVERYDietary SupplementsMutationNeurosciences & NeurologyNeurology (clinical)Adenosine triphosphate030217 neurology & neurosurgeryAnnals of Neurology
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Retrospective Analysis of Checkpoint Inhibitor Therapy-Associated Cases of Bullous Pemphigoid From Six German Dermatology Centers

2021

Immune-related adverse events (irAEs) are a class-effect of checkpoint inhibitors (CIs). The development of a Bullous pemphigoid (BP)-like blistering disease, driven by autoantibodies against the hemidesmosomal protein BP180, is a potentially serious irAE whose incidence seems to be increasing. We therefore set out to characterize the clinical and (immuno)histopathological features and treatment responses of cases of BP which developed during or after CI therapy collated in six German tertiary referral centers between 2014 and 2018. We identified twelve cases of BP which emerged during and/or after CI therapy. The time interval between the initiation of CI therapy and the diagnosis of BP wa…

0301 basic medicineMalelcsh:Immunologic diseases. Allergymedicine.medical_specialtyPD-1 - PD-L1 axisautoantibodiesImmune checkpoint inhibitorsImmunologypemphigoid diseaseIpilimumabPembrolizumabDermatology030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicineAntineoplastic Agents ImmunologicalAdrenal Cortex HormonesInternal medicineGermanyNeoplasmsPemphigoid BullousmedicineHumansImmunology and AllergyipilimumabAdverse effectImmune Checkpoint InhibitorsAgedRetrospective StudiesOriginal ResearchAged 80 and overnivolumabbusiness.industryIncidence (epidemiology)autoimmunityAutoantibodyMiddle Agedmedicine.disease030104 developmental biologyFemaleBullous pemphigoidpembrolizumabNivolumabbusinesslcsh:RC581-607checkpoint inhibitorsmedicine.drugFrontiers in Immunology
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MUC1 deficiency mediates corticosteroid resistance in chronic obstructive pulmonary disease.

2018

Background Lung inflammation in COPD is poorly controlled by inhaled corticosteroids (ICS). Strategies to improve ICS efficacy or the search of biomarkers who may select those patients candidates to receive ICS in COPD are needed. Recent data indicate that MUC1 cytoplasmic tail (CT) membrane mucin can mediate corticosteroid efficacy in chronic rhinosinusitis. The objective of this work was to analyze the previously unexplored role of MUC1 on corticosteroid efficacy in COPD in vitro and in vivo models. Methods MUC1-CT expression was measured by real time PCR, western blot, immunohistochemistry and immunofluorescence. The inflammatory mediators IL-8, MMP9, GM-CSF and MIP3α were measured by EL…

0301 basic medicineMalemedicine.drug_classDrug ResistanceInflammationMUC1Corticosteroid resistancedigestive system03 medical and health sciencesMicePulmonary Disease Chronic Obstructive0302 clinical medicineGlucocorticoid receptorIn vivoAdrenal Cortex HormonesmedicineAnimalsHumansGene Silencingskin and connective tissue diseasesneoplasmsDexamethasoneMUC1Agedlcsh:RC705-779Mice KnockoutCOPDLungbusiness.industryResearchChronic obstructive pulmonary diseaseMucin-1Sputumlcsh:Diseases of the respiratory systemMiddle Agedmedicine.diseasedigestive system diseasesrespiratory tract diseasesMice Inbred C57BL030104 developmental biologymedicine.anatomical_structure030228 respiratory systemImmunologyCorticosteroidFemalemedicine.symptombusinessBiomarkersmedicine.drugRespiratory research
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IL-17A-associated IKK-α signaling induced TSLP production in epithelial cells of COPD patients.

2018

Thymic stromal lymphopoietin (TSLP) is a cytokine expressed in the epithelium, involved in the pathogenesis of chronic disease. IL-17A regulates airway inflammation, oxidative stress, and reduction of steroid sensitivity in chronic obstructive pulmonary disease (COPD). TSLP and IL-17A were measured in induced sputum supernatants (ISs) from healthy controls (HC), healthy smokers (HS), and COPD patients by enzyme-linked immunosorbent assay. Human bronchial epithelial cell line (16HBE) and normal bronchial epithelial cells were stimulated with rhIL-17A or ISs from COPD patients to evaluate TSLP protein and mRNA expression. The effects of the depletion of IL-17A in ISs, an anticholinergic drug,…

0301 basic medicineMalemedicine.medical_treatmentClinical Biochemistrylcsh:MedicineCell CountBiochemistryCholinergic AntagonistsPathogenesisHistonesPulmonary Disease Chronic Obstructivelcsh:QD415-436COPDKinaseInterleukin-17AcetylationI-kappa B KinaseRespiratory Function TestsCytokinemedicine.anatomical_structureMolecular MedicineCytokinesFemaleProtein BindingSignal TransductionThymic stromal lymphopoietinEnzyme-Linked Immunosorbent AssayRespiratory MucosaArticleCell Linelcsh:Biochemistry03 medical and health sciencesThymic Stromal LymphopoietinmedicineGene silencingCOPDHumansMolecular Biologybusiness.industrylcsh:RSputumEpithelial Cellsmedicine.diseaseEpitheliumrespiratory tract diseases030104 developmental biologyCell cultureCancer researchbusinessBiomarkersExperimentalmolecular medicine
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Conf-VLKA: A structure-based revisitation of the Virtual Lock-and-key Approach

2016

In a previous work, we developed the in house Virtual Lock-and-Key Approach (VLKA) in order to evaluate target assignment starting from molecular descriptors calculated on known inhibitors used as an information source. This protocol was able to predict the correct biological target for the whole dataset with a good degree of reliability (80%), and proved experimentally, which was useful for the target fishing of unknown compounds. In this paper, we tried to remodel the previous in house developed VLKA in a more sophisticated one in order to evaluate the influence of 3D conformation of ligands on the accuracy of the prediction. We applied the same previous algorithm of scoring and ranking b…

0301 basic medicineMaterials Chemistry2506 Metals and AlloysInhibitorStructure-basedComputer scienceProtein ConformationProtein Data Bank (RCSB PDB)Molecular ConformationTarget fishingMolecular Dynamics Simulationcomputer.software_genreLigands01 natural sciencesDockingVlka03 medical and health sciencesMolecular descriptorMaterials ChemistryHumansPhysical and Theoretical ChemistryCluster analysisDatabases ProteinSimulationSpectroscopyBinding SitesProteinscomputer.file_formatDescriptorProtein Data BankComputer Graphics and Computer-Aided Design0104 chemical sciencesMolecular Docking Simulation010404 medicinal & biomolecular chemistry030104 developmental biologyProtein–ligand dockingBiological targetDocking (molecular)Biological targetStructure basedLigand-basedData miningcomputerAlgorithmsSoftwareProtein Binding
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Mucoadhesive solid lipid microparticles for controlled release of a corticosteroid in the chronic obstructive pulmonary disease treatment.

2017

Therapeutic efficacy of inhaled drugs is limited by rapid clearance from the site of action due to absorption into systemic circulation or metabolic degradation by alveolar macrophages. Drug delivery systems offer new solutions to clinical problems especially in the treatment of pulmonary diseases. In particular, Solid Lipid Microparticles (SLM) in the range of 3-5 µm are suggested as systems for delivery of therapeutics to the lung as, because of their size, they are able to deposit into secondary bronchi, avoiding systemic absorption typical of alveolar regions. Here, we describe two novel different SLMs prepared with chitosan and alginate for sustained release of fluticasone propionate (…

0301 basic medicineMedicine (miscellaneous)Biocompatible Materials02 engineering and technologyPharmacologymedicine.disease_causeChitosanPulmonary Disease Chronic Obstructivechemistry.chemical_compoundDrug StabilityGlucuronic AcidAdrenal Cortex HormonesMucoadhesive Solid Lipid Nanoparticles (SLMs);Aerodynamic diameter;Chronic obstructive pulmonary disease (COPD)General Materials Sciencechronic obstructive pulmonary disease (COPD)LungChromatography High Pressure LiquidDrug CarriersHexuronic Acidsaerodynamic diameter; chronic obstructive pulmonary disease (COPD); mucoadhesive solid lipid microparticles (SLMs)021001 nanoscience & nanotechnologyLipidsControlled releasemucoadhesive solid lipid microparticles (SLMs)Microspheresmedicine.anatomical_structureDrug deliveryCorticosteroid0210 nano-technologymedicine.drugBiocompatibilityAlginatesCell SurvivalSurface Propertiesmedicine.drug_classBiomedical EngineeringBioengineeringDevelopmentFluticasone propionate03 medical and health sciencesAdministration InhalationmedicineHumansParticle Sizeaerodynamic diameterChitosanLungbusiness.industryEpithelial CellsDrug LiberationOxidative Stress030104 developmental biologychemistryDelayed-Action PreparationsImmunologyMicroscopy Electron ScanningFluticasonebusinessOxidative stress
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Shelf life evaluation of fresh-cut red chicory subjected to different minimal processes

2018

Abstract Microbiological, chemical and physical parameters of minimally processed red chicory (Cichorium intybus L.) subjected to two different transformation processes were investigated. A classic ready-to-eat (RTE) process (P1) and a production without cutting (P2) were monitored during refrigerated (4 °C) storage (15 d). Total mesophilic microorganisms, total psychrotrophic microorganisms and pseudomonads were detected at the highest cell densities in all samples. Presumptive Pseudomonas population dominated the cultivable microbial community of RTE red chicory and were characterized genetically. Twenty-two randomly amplified polymorphic DNA (RAPD) types were investigated by 16S rRNA gen…

0301 basic medicineMicroorganism030106 microbiologyPopulationShelf lifeSettore AGR/04 - Orticoltura E FloricolturaPseudomonaMicrobiologyChicory03 medical and health sciences0404 agricultural biotechnologyPseudomonasCichoriumVegetablesFood scienceeducationeducation.field_of_studybiologyPseudomonas; Ready-to-eat vegetables; Red chicory; Shelf life; Food Science; MicrobiologyPseudomonas04 agricultural and veterinary sciencesAscorbic acidbiology.organism_classification040401 food scienceRandom Amplified Polymorphic DNA TechniqueRAPDReady-to-eat vegetableFood StorageMicrobial population biologyRed chicoryFood ScienceMesophileSettore AGR/16 - Microbiologia Agraria
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Conformational dynamism for DNA interaction in the Salmonella RcsB response regulator

2017

17 páginas, 7 figuras, 1 tabla

0301 basic medicineModels MolecularSalmonella typhimuriumProtein Data Bank (RCSB PDB)Plasma protein bindingBiologyCrystallography X-RayDNA-binding protein03 medical and health sciencesBacterial ProteinsProtein DomainsStructural BiologyGeneticsAmino Acid SequencePhosphorylationTranscription factorSequence Homology Amino AcidEffectorPromoterDNACell biologyResponse regulator030104 developmental biologyRegulonBiochemistryNucleic Acid ConformationProtein BindingNucleic Acids Research
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