Search results for "PATHOGENESIS"

showing 10 items of 761 documents

No association between the cystatin C gene polymorphism and Alzheimer's disease: a case-control study in an Italian population.

2005

Cystatin C is an amyloidogenic protein found together with beta-amyloid in cerebral arteriolar walls of both patients with Alzheimer's Disease (AD) and conghopilic amyloid angiopathy. Several findings implicate cystatin C in the pathogenesis of vascular diseases. Recent genetic association studies proposed cystatin C gene (CST3) as a susceptibility factor for AD, although other reports did not replicate this finding. We conducted a case-control study including 192 probable AD cases and 192 age- and sex-matched controls to test the association between CST3 and AD. Possible interaction between CST3 and age at onset of AD or apolipoprotein E (APOE) was also examined. No significant differences…

MaleApolipoprotein EGenotypeDiseasePathogenesisApolipoproteins EAlzheimer DiseaseGenotypeHumansGenetic Predisposition to DiseaseCystatin CAllele frequencyAllelesAgedGenetic associationAged 80 and overGeneticsGenomic LibraryPolymorphism GeneticbiologyKeywords: Alzheimer’s disease cystatin C apolipoprotein E case-control study polymorphismGeneral NeuroscienceCase-control studyGeneral MedicineMiddle AgedCystatinsPsychiatry and Mental healthClinical PsychologyItalyCystatin CCase-Control StudiesImmunologybiology.proteinSettore MED/26 - NeurologiaFemaleGeriatrics and Gerontology
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Crowding effect on adult growth, pre-patent period and egg shedding of Fasciola hepatica

2006

Fascioliasis pathogenesis depends on fluke burden. In human hyperendemic zones, individual infection intensities reach very high levels and the majority of infected subjects should be in the advanced chronic phase. The rat model offers a useful approach for pathological research in the advanced chronic period. The influence of infection intensity per rat on fluke development, pre-patent period and egg shedding (eggs/g faeces/worm) was analysed in 3 groups (I: 1–3 worms/rat; II: 4–6; III: 7–9). Ontogenetic trajectories of fluke body measures followed a logistic model. Results showed that when the burden increases, the maximum values of fluke measures decrease. The crowding effect is manifest…

MaleBoliviaFascioliasisTime FactorsOntogenyPeriod (gene)SnailsPhysiologyBiologyModels BiologicalHost-Parasite InteractionsPathogenesisFecesRandom Allocationparasitic diseasesParasite Egg CountAnimalsHumansFasciola hepaticaParasite hostingRats WistarParasite Egg CountFecesPopulation DensityEcologyFasciola hepaticabiology.organism_classificationRatsLogistic ModelsInfectious DiseasesChronic DiseaseAnimal Science and ZoologyParasitologyTrematodaParasitology
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The Cerebral Thrombin System Is Activated after Intracerebral Hemorrhage and Contributes to Secondary Lesion Growth and Poor Neurological Outcome in …

2020

With increasing evidence for the existence of a cerebral thrombin system, coagulation factor IIa (thrombin) is suspected to influence the pathogenesis of secondary injury progression after intracerebral hemorrhage (ICH). We hypothesized that mechanisms associated with local volume expansion after ICH, rather than blood constituents, activate the cerebral thrombin system and are responsible for detrimental neurological outcome. To test this hypothesis, we examine the local thrombin expression after ICH in a C57BL/6N mouse model in the presence and absence of blood constituents. ICH was established using stereotaxic orthotopic injection of utologous blood (

MaleC57BL/6030506 rehabilitationPathologymedicine.medical_specialtyPathogenesisMice03 medical and health sciences0302 clinical medicineThrombinAnimalsMedicineFactor IIaBlood CoagulationCells CulturedCerebral HemorrhageNeuronsIntracerebral hemorrhagebiologybusiness.industryThrombinbiology.organism_classificationmedicine.diseaseMice Inbred C57BLCoagulationCerebrovascular CirculationSecondary LesionNeurology (clinical)0305 other medical sciencebusiness030217 neurology & neurosurgerycirculatory and respiratory physiologymedicine.drugJournal of Neurotrauma
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Microbial Succession in the Gut: Directional Trends of Taxonomic and Functional Change in a Birth Cohort of Spanish Infants

2014

In spite of its major impact on life-long health, the process of microbial succession in the gut of infants remains poorly understood. Here, we analyze the patterns of taxonomic and functional change in the gut microbiota during the first year of life for a birth cohort of 13 infants. We detect that individual instances of gut colonization vary in the temporal dynamics of microbiota richness, diversity, and composition at both functional and taxonomic levels. Nevertheless, trends discernible in a majority of infants indicate that gut colonization occurs in two distinct phases of succession, separated by the introduction of solid foods to the diet. This change in resource availability causes…

MaleCancer ResearchGene Identification and AnalysisBiodiversityPathogenesisEcological successionGut floraPathology and Laboratory MedicineFecesDiversity indexMedicine and Health SciencesCommunity AssemblyGenome SequencingTaxonomic rankGenetics (clinical)EcologyEcologyMicrobiotaAge FactorsBiodiversityGenomicsBiotaFunctional GenomicsCommunity EcologyHost-Pathogen InteractionsFemaleTaxonomy (biology)Research ArticleAdultDNA Bacteriallcsh:QH426-470Microbial ConsortiaZoologyBiologyMicrobiologyMicrobial EcologyMolecular GeneticsGeneticsHumansMolecular Biology TechniquesSequencing TechniquesCommunity StructureMolecular BiologyEcology Evolution Behavior and Systematics0604 GeneticsBase SequenceEcology and Environmental SciencesInfant NewbornInfantBiology and Life SciencesComputational BiologySequence Analysis DNAComparative Genomicsbiology.organism_classificationDietGastrointestinal Tractlcsh:GeneticsSpecies InteractionsTaxonSpainMetagenomicsSpecies richnessDevelopmental BiologyPLoS Genetics
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Expression of insulin-like growth factor system components in Ewing's sarcoma and their association with survival.

2010

Abstract Aims The role of IGF system in the pathogenesis of Ewing’s sarcoma (EWS) is well-documented. However, still little information is available about the value of IGF system components as indicators of prognosis. Understanding the clinical role for IGF system in EWS patients may be important because different subtypes of patients have distinct outcome and may require different treatment protocol. We evaluated the expression of insulin-like growth factor (IGF)-receptor (IGF-IR), insulin receptor (IR), IGF-I and some major intracellular mediators (IRS1, p-ERK) in specimens from EWS patients with primary localised untreated tumours. Patients and methods 290 samples were used for immunohis…

MaleCancer Researchmedicine.medical_specialtyAdolescentmedicine.medical_treatmentEnzyme-Linked Immunosorbent AssaySarcoma EwingPathogenesisInsulin-like growth factorInternal medicinemedicineHumansInsulin-Like Growth Factor IReceptorChildbiologyReverse Transcriptase Polymerase Chain ReactionEwing's sarcomaCancermedicine.diseasePrognosisImmunohistochemistryIRS1Gene Expression Regulation NeoplasticInsulin receptorEndocrinologyTreatment OutcomeOncologybiology.proteinCancer researchDisease ProgressionFemaleSarcomaEuropean journal of cancer (Oxford, England : 1990)
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Deregulation of the G1 to S-phase cell cycle checkpoint is involved in the pathogenesis of human osteosarcoma.

2004

Osteosarcoma (OS) displays complex karyotypes with numerical changes as well as structural abnormalities suggesting that several oncogenes and tumor suppressor genes may be implicated in the biology of OS. The aim of our study was to investigate the possible implication of the molecular alterations of the G1 to S-phase checkpoint genes in the pathogenesis of OS. We analyzed samples from 29 patients and found molecular alterations of the RB and TP53 genes in 6 (21%) and 3 (10%) cases, respectively. Homozygous deletion of the INK4A/ARF locus and methylation of INK4A was detected in 3 (10%) and 2 (7%) cases, respectively. CDK4 and MDM2 co-amplification was observed in 1 case (3%). Cyclin D3 is…

MaleCell cycle checkpointAdolescentLocus (genetics)Bone NeoplasmsBiologyPathology and Forensic MedicineS PhasePathogenesisGene duplicationmedicineHumansCHEK1Cyclin D3ChildMolecular BiologyAgedOsteosarcomaReverse Transcriptase Polymerase Chain ReactionCell CycleAge FactorsG1 PhaseGene AmplificationCell BiologyG2-M DNA damage checkpointMiddle Agedmedicine.diseaseGenes cdcHistory 16th CenturyCancer researchOsteosarcomaFemaleChromosomes Human Pair 9Diagnostic molecular pathology : the American journal of surgical pathology, part B
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TLR4 upregulation underpins airway neutrophilia in smokers with chronic obstructive pulmonary disease and acute respiratory failure

2010

Activation of Toll-like receptors (TLR) seems to be involved in the pathogenesis of chronic obstructive pulmonary disease (COPD). Upon TLR activation the release of defensins, including human beta defensin 2 (HBD-2), may occur. In this study, we explored the innate responses in patients with respiratory failure, with and without COPD, requiring intubation and mechanical ventilation. Mini-bronchoalveolar lavage (mini-BAL) samples were collected from nonsmoker subjects without COPD (n = 10), smokers without COPD (n = 6), and smokers with COPD (n = 15). TLR4, TLR2, and HBD-2 expression was evaluated by immunocytochemistry; interleukin (IL)-8, IP-10, and HBD-2 concentrations were evaluated by e…

MaleChemokinebeta-DefensinsLeukocytosisNeutrophilsLymphocyteImmunologySettore MED/41 - AnestesiologiaApoptosisPathogenesisPulmonary Disease Chronic ObstructivemedicineHumansImmunology and AllergyAgedAged 80 and overCOPDTUNEL assaybiologybusiness.industryChemotaxisInterleukin-8SmokingAcute Lung Injury COPD TLR4InterleukinGeneral Medicinemedicine.diseaseToll-Like Receptor 2Neutrophiliarespiratory tract diseasesToll-Like Receptor 4medicine.anatomical_structureTerminal deoxynucleotidyl transferaseAcute DiseaseImmunologybiology.proteinFemalemedicine.symptomRespiratory InsufficiencybusinessBronchoalveolar Lavage FluidHuman Immunology
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High Variability of Fabry Disease Manifestations in an Extended Italian Family

2015

Fabry disease (FD) is an inherited metabolic disorder caused by partial or full inactivation of the lysosomal hydrolaseα-galactosidase A (α-GAL). The impairment ofα-GAL results in the accumulation of undegraded glycosphingolipids in lysosomes and subsequent cell and microvascular dysfunctions. This study reports the clinical, biochemical, and molecular characterization of 15 members of the same family. Eight members showed the exonic mutation M51I in the GLA gene, a disease-causing mutation associated with the atypical phenotype. The clinical history of this family highlights a wide phenotypic variability, in terms of involved organs and severity. The phenotypic variability of two male pati…

MaleDNA Mutational AnalysisFamilial Mediterranean feverlcsh:Medicinemedicine.disease_causePathogenesis0302 clinical medicineSettore BIO/13 - Biologia ApplicataFabry disease; GLA gene; LysoGb3glaFabry diseaseexonic mutation M51IGenetics0303 health sciencesMutationMetabolic disorderGeneral MedicineMiddle AgedPedigree3. Good healthItalyFemalemedicine.symptomResearch ArticleAdultArticle SubjectMolecular Sequence DataBiologyAsymptomaticGeneral Biochemistry Genetics and Molecular BiologyYoung Adult03 medical and health sciencesmedicineHumansFamilyGLA gene030304 developmental biologyfabry diseaseAlpha-galactosidaseBase SequenceGeneral Immunology and MicrobiologyMultiple sclerosislcsh:RLysoGb3medicine.diseaseFabry diseasealpha-GalactosidaseImmunologybiology.protein030217 neurology & neurosurgeryBioMed Research International
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Molecular basis of endothelial dysfunction in sepsis.

2003

Sepsis is one of the major causes of mortality in critically ill patients and develops as a result of the host response to infection. A complex network of events is set into motion in the body by the infection and results in the pathogenesis of sepsis. This review article focuses on the molecular mechanisms and components involved in the pathogenesis of sepsis with a major emphasis on the endothelium. This includes sepsis-inducing bacterial components (e.g. endotoxins), cellular targets of these molecules and their responses, host reactions, intracellular and cytokine networks, individual susceptibility and new therapeutic targets in sepsis treatment.

MaleEndotheliumPhysiologymedicine.medical_treatmentReceptors Cell SurfaceBiologyNitric OxidePathogenesisSepsisPhysiology (medical)SepsismedicineHumansEndothelial dysfunctionHypoxiaMembrane GlycoproteinsToll-Like ReceptorsEndothelial Cellsmedicine.diseaseReview articleBacterial adhesinEndotoxinsmedicine.anatomical_structureCytokineImmunologyMutationCytokinesFemaleDisease SusceptibilityEndothelium VascularCardiology and Cardiovascular MedicineReactive Oxygen SpeciesCell Adhesion MoleculesIntracellularInterleukin-1Cardiovascular research
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Patterns of transmitted HIV drug resistance in Europe vary by risk group

2014

BACKGROUND: In Europe, a continuous programme (SPREAD) has been in place for ten years to study transmission of drug resistant HIV. We analysed time trends of transmitted drug resistance mutations (TDRM) in relation to the risk behaviour reported. METHODS: HIV-1 patients newly diagnosed in 27 countries from 2002 through 2007 were included. Inclusion was representative for risk group and geographical distribution in the participating countries in Europe. Trends over time were calculated by logistic regression. RESULTS: From the 4317 patients included, the majority was men-having-sex-with-men -MSM (2084, 48%), followed by heterosexuals (1501, 35%) and injection drug users (IDU) (355, 8%). MSM…

MaleEpidemiologygenotypeHuman immunodeficiency virus 1HIV InfectionsRNA directed DNA polymerase inhibitorhigh risk patientLogistic regressionSettore MED/42 - Igiene Generale E ApplicataMen who have sex with men0302 clinical medicineImmunodeficiency Virusesmiddle agedstatistics and numerical data10. No inequalitySubstance Abuse Intravenous0303 health sciencesadulttransmissionvirus diseasesvirus transmissionhighly active antiretroviral therapyHIV immunopathogenesis3. Good healthMedical MicrobiologyViral Pathogenshigh risk behaviorMedicineScience & Technology - Other TopicsPOPULATIONShealth programanti human immunodeficiency virus agentUSERSmedicine.medical_specialtyScienceSexual BehaviorImmunologySexually Transmitted Diseasesintravenous drug abuse-Microbiology03 medical and health sciencesAntibiotic resistanceSDG 3 - Good Health and Well-beingHuman immunodeficiency virus infectionproteinase inhibitorHumansProtease InhibitorshumanHeterosexualityMicrobial PathogensseroconversionMedicine and health sciencesScience & TechnologyGenitourinary InfectionsMUTATIONSVirologymajor clinical studyLogistic Modelstransmitted drug resistance mutationHeterosexualityHIV-1Viral Diseases:Medical sciences: 700::Basic medical dental and veterinary sciences: 710::Medical immunology: 716 [VDP]drug responsemen who have sex with menDrug resistanceClinical immunologygeographyAPPEARANCEmale homosexualityMedizinische Fakultätimmune system diseasesEpidemiologyINFECTIONMedicine and Health Sciencessubstance abuse030212 general & internal medicineriskMultidisciplinaryACTIVE ANTIRETROVIRAL THERAPYTransmission (medicine)virus mutationQRarticleObstetrics and GynecologyHIV diagnosis and managementMiddle AgedvirologyMultidisciplinary SciencesEuropeInfectious Diseasesfemale:Medisinske fag: 700::Basale medisinske odontologiske og veterinærmedisinske fag: 710::Medisinsk immunologi: 716 [VDP]Reverse Transcriptase InhibitorsHIV clinical manifestationsFemaleepidemiologyblood samplingHIV drug resistanceResearch ArticleAdultRiskrisk-groupAnti-HIV AgentsUrologyprevalenceInfectious Disease Epidemiologysexual behaviorRisk-Takingmaleantiviral resistanceInternal medicineDrug Resistance Viralmedicinecontrolled studyddc:610Homosexuality Male030304 developmental biologydrug resistanceBiology and life sciencesbusiness.industrystatistical modelHIVCD4 lymphocyte countheterosexualitynonnucleoside reverse transcriptase inhibitorHuman immunodeficiency virus 1 infectionDiagnostic medicineINDIVIDUALSdrug effectsWomen's Healthbusinesstrend study
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