Search results for "DISEASES"

showing 10 items of 20537 documents

Gut microbiota regulate hepatic von Willebrand factor synthesis and arterial thrombus formation via Toll-like receptor-2.

2016

The symbiotic gut microbiota play pivotal roles in host physiology and the development of cardiovascular diseases, but the microbiota-triggered pattern recognition signaling mechanisms that impact thrombosis are poorly defined. In this article, we show that germ-free (GF) and Toll-like receptor-2 (Tlr2)-deficient mice have reduced thrombus growth after carotid artery injury relative to conventionally raised controls. GF Tlr2-/- and wild-type (WT) mice were indistinguishable, but colonization with microbiota restored a significant difference in thrombus growth between the genotypes. We identify reduced plasma levels of von Willebrand factor (VWF) and reduced VWF synthesis, specifically in he…

0301 basic medicineBlood Plateletsmedicine.medical_specialtyEndotheliumPlatelet AggregationImmunologyBiologyBiochemistry03 medical and health sciencesMiceVon Willebrand factorhemic and lymphatic diseasesInternal medicinevon Willebrand FactormedicineAnimalsGerm-Free LifePlateletThrombusIntegrin bindingMice KnockoutToll-like receptorThrombosisCell BiologyHematologymedicine.diseaseToll-Like Receptor 2Gastrointestinal MicrobiomeTLR2030104 developmental biologymedicine.anatomical_structureEndocrinologyLivercardiovascular systembiology.proteinSignal transductioncirculatory and respiratory physiologySignal TransductionBlood
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Angiotensin II type 1 receptor antagonists in animal models of vascular, cardiac, metabolic and renal disease

2016

AbstractWe have reviewed the effects of angiotensin II type 1 receptor antagonists (ARBs) in various animal models of hypertension, atherosclerosis, cardiac function, hypertrophy and fibrosis, glucose and lipid metabolism, and renal function and morphology. Those of azilsartan and telmisartan have been included comprehensively whereas those of other ARBs have been included systematically but without intention of completeness. ARBs as a class lower blood pressure in established hypertension and prevent hypertension development in all applicable animal models except those with a markedly suppressed renin–angiotensin system; blood pressure lowering even persists for a considerable time after d…

0301 basic medicineBlood Pressure030204 cardiovascular system & hematologyKidneyurologic and male genital diseasesBenzoatesAnimals Genetically ModifiedRenin-Angiotensin SystemGene Knockout Techniques0302 clinical medicineAzilsartanPharmacology (medical)TelmisartanOxadiazolesKidneybiologyStrokemedicine.anatomical_structureCardiovascular DiseasesHypertensionDrug Therapy Combinationmedicine.drugmedicine.medical_specialty03 medical and health sciencesMetabolic DiseasesCulture TechniquesInternal medicineRenin–angiotensin systemmedicineAnimalsHumansAntihypertensive AgentsPharmacologyAngiotensin II receptor type 1business.industryAngiotensin-converting enzymeAtherosclerosisLipid Metabolismmedicine.diseaseDisease Models AnimalGlucose030104 developmental biologyBlood pressureEndocrinologyPathophysiology of hypertensionbiology.proteinBenzimidazolesEndothelium VascularTelmisartanbusinessAngiotensin II Type 1 Receptor BlockersPharmacology & Therapeutics
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The role of CD40 and CD40L in bone mineral density and in osteoporosis risk: A genetic and functional study.

2015

Compelling data are revealing that the CD40/CD40L system is involved in bone metabolism. Furthermore, we have previously demonstrated that polymorphisms in both genes are associated with bone phenotypes. The aim of this study is to further characterize this association and to identify the causal functional mechanism. We conducted an association study of BMD with 15 SNPs in CD40/CD40L genes in a population of 779 women. In addition, we assessed the functionality of this association through the study of the allele-dependent expression of CD40 and CD40L in peripheral blood leukocytes (PBLs) and in human osteoblasts (OBs) obtained from bone explants by qPCR and by sequencing. When an allelic im…

0301 basic medicineBone densityTranscription GeneticPhysiologyEndocrinology Diabetes and MetabolismInheritance PatternsCohort Studies0302 clinical medicineBone DensityGenes ReporterRisk FactorsPromoter Regions GeneticGeneticseducation.field_of_studyhemic and immune systemsMethylationMiddle AgedPhenotypeDNA methylationFemalemusculoskeletal diseasesmedicine.medical_specialtyHistologyPopulationCD40 Ligand030209 endocrinology & metabolismSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideBone and Bones03 medical and health sciencesInternal medicinemedicineHumansGenetic Predisposition to DiseaseAlleleCD40 AntigenseducationAllelesGenetic Association StudiesGenetic associationModels GeneticOsteoprotegerinPromoterDNA Methylation030104 developmental biologyEndocrinologySpainOsteoporosisCpG IslandsBone
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Structural, ultrastructural, and morphometric study of the zebrafish ocular surface: a model for human corneal diseases?

2018

Purpose: A morphological and morphometric study of the adult zebrafish ocular surface was performed to provide a comprehensive description of its parts and to evaluate its similarity to the human. Materials and Methods: The eyes of adult zebrafish were processed for light, transmission and scanning electron microscopy, and for immunohistochemical stain of corneal nerves; a morphometric analysis was also performed on several morphological parameters. Results: The corneal epithelium was formed by five layers of cells. No Bowman’s layer could be demonstrated. The stroma consisted of lamellae of different thickness with few keratocytes. The Descemet’s membrane was absent as the flat and polygon…

0301 basic medicineBowman's layer; corneal nerves; Descemet's membrane; ocular surface; Zebrafish; Ophthalmology; Sensory Systems; Cellular and Molecular NeuroscienceConjunctivaCorneal StromaBiologycorneal nerveCorneal DiseasesCornea03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineMicroscopy Electron TransmissionCorneamedicineAnimalsHumansTrigeminal NerveBowman MembraneZebrafishDescemet MembraneZebrafishTrigeminal nerveocular surfaceBowman’s layerCorneal DiseasesEndothelium CornealEpithelium CornealDescemet’s membraneEpithelial CellsAnatomybiology.organism_classificationSensory SystemsDescemet's membraneOphthalmology030104 developmental biologymedicine.anatomical_structureModels Animal030221 ophthalmology & optometryUltrastructureMicroscopy Electron ScanningGoblet CellsBowman MembraneConjunctivaCurrent eye research
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Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

2020

OBJECTIVE Primary familial brain calcification (PFBC) is a rare cerebral microvascular calcifying disorder with diverse neuropsychiatric expression. Five genes were reported as PFBC causative when carrying pathogenic variants. Haploinsufficiency of SLC20A2, which encodes an inorganic phosphate importer, is a major cause of autosomal-dominant PFBC. However, PFBC remains genetically unexplained in a proportion of patients, suggesting the existence of additional genes or cryptic mutations. We analyzed exome sequencing data of 71 unrelated, genetically unexplained PFBC patients with the aim to detect copy number variations that may disrupt the expression of core PFBC-causing genes. METHODS Afte…

0301 basic medicineBrain DiseasesDNA Copy Number VariationsSodium-Phosphate Cotransporter Proteins Type IIIHEK 293 cellsBrainHaploinsufficiencyBiologyMolecular biologyReverse transcriptase03 medical and health sciencesHEK293 Cells030104 developmental biology0302 clinical medicineNeurologyMutationHumansNeurology (clinical)Copy-number variationAlleleHaploinsufficiencyEnhancerGene030217 neurology & neurosurgeryExome sequencingMovement Disorders
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The potential of cystatin C as a predictive biomarker in breast cancer

2020

Breast cancer (BCa) is the leading cause of cancer-related deaths among women. Numerous efforts are being directed toward identifying novel tissue and/or circulating molecular markers that may help clinicians in detecting early-stage BCa patients and in providing an accurate estimation of the prognosis and prediction of response to clinical treatments. In this setting, emerging evidence has indicated Cystatin C (Cyst C), as the most potent endogenous inhibitor of cysteine cathepsins, as a possible useful marker in the clinical management of BCa patients.This review analyzes the results of emerging studies underpinning a potential clinical role of Cyst C, as additional marker in BCa.Cyst C e…

0301 basic medicineBreast NeoplasmsMetastasiCysteine proteinaseMetastasisCathepsin03 medical and health sciences0302 clinical medicineBreast cancerBreast cancerBiomarkers Tumorproteinase inhibitorMedicineAnimalsHumansPharmacology (medical)Cystatin Cskin and connective tissue diseasesPredictive biomarkerNeoplasm StagingCathepsinbiologybusiness.industryTumor progressionjCystatin C CystatinCysteine proteinasesmedicine.diseasePrognosis030104 developmental biologyOncologyCystatin CTumor progression030220 oncology & carcinogenesistumor markerCancer researchbiology.proteinDisease ProgressionFemalebusiness
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As-needed anti-inflammatory reliever therapy for asthma management: evidence and practical considerations

2021

Asthma is a chronic respiratory disease in which airway inflammation is a key feature, even in the milder expressions of the disease. The conventional pharmacological approach to mild asthma has long relied on reliever therapy with as-needed short-acting beta-agonists (SABAs), while anti-inflammatory maintenance with inhaled corticosteroids (ICSs) has been reserved for patients with more persistent asthma. Poor adherence to maintenance treatment is an important issue in asthma management, and can partly explain suboptimal symptom control. Over-reliance on SABA bronchodilators for rapid symptom relief is common in real life and potentially leads to an increased risk of asthma morbidity and m…

0301 basic medicineBudesonidemedicine.medical_specialtyImmunologySettore SECS-P/03Anti-Inflammatory AgentsSocio-culturaleDiseaseSettore MED/10 - Malattie Dell'Apparato RespiratorioAsthma managementasthma; pharmacology and pharmacogenomics; pneumology03 medical and health sciences0302 clinical medicineSymptom reliefMaintenance therapymedicineImmunology and AllergyHumansAnti-Asthmatic AgentsPneumologyIntensive care medicineAsthmaAsthma Pharmacology and pharmacogenomics Pneumologybusiness.industryInhalerPharmacology and pharmacogenomicsRespiratory diseasepharmacology and pharmacogenomicmedicine.diseaseAsthmarespiratory tract diseasesBronchodilator Agents030104 developmental biology030228 respiratory systembusinessmedicine.drug
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Outbreak of urogenital schistosomiasis in Corsica (France): an epidemiological case study

2016

Summary Background Schistosomiasis is a snail-borne parasitic disease endemic in several tropical and subtropical countries. However, in the summer of 2013, an unexpected outbreak of urogenital schistosomiasis occurred in Corsica, with more than 120 local people or tourists infected. We used a multidisciplinary approach to investigate the epidemiology of urogenital schistosomiasis in Corsica, aiming to elucidate the origin of the outbreak. Methods We did parasitological and malacological surveys at nine potential sites of infection. With the snails found, we carried out snail–parasite compatibility experiments by exposing snails to schistosome larvae recovered from the urine of a locally in…

0301 basic medicineBulinusBulinus truncatus030231 tropical medicineSnailsZoologySchistosomiasis[SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and NephrologyDisease Outbreaks03 medical and health sciencesFecesSchistosomiasis haematobia0302 clinical medicine[SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseasesparasitic diseasesmedicineHelminthsAnimalsHumansBulinusSchistosomaSchistosoma haematobium[SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseasesMolecular epidemiologybiologyEcology[SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE]Outbreakmedicine.diseasebiology.organism_classificationSenegal3. Good healthEpidemiologic Studies030104 developmental biologyInfectious DiseasesSchistosoma haematobiumHybridization Genetic[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieFrance
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IL-17A/F in Leishmania major-resistant C57BL/6 mice.

2019

Proinflammatory IL-17 plays an important role in various diseases and defence against extracellular microorganisms. Healing of leishmaniasis is promoted by Th1/Tc1 cells, whereas Th2/Treg are associated with worsened disease outcome. In addition, high expression of IL-17A in Leishmania-susceptible BALB/c and artificial overexpression of IL-17A in T cells in resistant C57BL/6 mice worsened disease outcome. Since C57BL/6 mice lacking only IL-17A exhibited no phenotype, and IL-17A and IL-17F share similar receptors, but differentially regulate chemokine secretion, we studied mice lacking both IL-17A and IL-17F (IL-17A/F-/- ) in infections with Leishmania major. Interestingly, lesion volumes an…

0301 basic medicineC57BL/6CD4-Positive T-LymphocytesMaleDermatologyBiochemistryProinflammatory cytokineLesion030207 dermatology & venereal diseases03 medical and health sciencesMice0302 clinical medicineTh2 CellsmedicineAnimalsSecretionLeishmania majorReceptorMolecular BiologyIntraepithelial LymphocytesLeishmaniasisCrosses GeneticLeishmaniaMice Inbred BALB CbiologyInterleukin-17Th1 Cellsbiology.organism_classificationPhenotypeMice Inbred C57BL030104 developmental biologyPhenotypeChemokine secretionImmunologyDisease ProgressionCytokinesFemalemedicine.symptomExperimental dermatology
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Sjogren's syndrome: Review of the aetiology, PathophysiologyPotential therapeutic interventions.

2016

Background Sjogren’s syndrome (SS) is an autoimmune disorder characterised by lymphocytic infiltration of exocrine glands, resulting in glandular dysfunction. Objectives: This study aims to review the aetiology of Sjogren’s syndrome, highlight aspects that contribute to the pathophysiology of the disease and explore treatment options that target different mediators of pathogenesis. Material and Methods The MEDLINE/PubMed and Google Scholar databases were searched systematically with the terms “Sjogren’s syndrome”; “clinical”; “treatment”; “management”. Eligible studies had to meet a predefined inclusion criteria. Results 912 identified studies were evaluated against the inclusion criteria. …

0301 basic medicineCD20Oral Medicine and Pathologybiologybusiness.industryMEDLINEAutoantibodyDiseaseReviewBioinformatics:CIENCIAS MÉDICAS [UNESCO]PathophysiologyClinical trial03 medical and health sciencesstomatognathic diseases030104 developmental biologystomatognathic systemImmunologyUNESCO::CIENCIAS MÉDICASEtiologybiology.proteinMedicinebusinessB-cell activating factorGeneral DentistryJournal of clinical and experimental dentistry
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