Search results for "PATHOLOGY"

showing 10 items of 8489 documents

Lysosomal acid lipase deficiency: Expanding differential diagnosis.

2016

The differential diagnoses for metabolic liver diseases may be challenging in clinical settings, which represents a critical issue for disorders such as lysosomal acid lipase deficiency (LAL-D). LAL-D is caused by deficient activity of the LAL enzyme, resulting in the accumulation of cholesteryl esters and triglycerides throughout the body, predominately in the liver, spleen, gastrointestinal tract, and blood vessel walls. LAL-D is a progressive, multi-organ disease with early mortality and significant morbidity characterized by a combination of hepatic dysfunction and dyslipidemia. Evidence suggests LAL-D may be substantially underdiagnosed or misdiagnosed, which is critical given that dis…

0301 basic medicineMalemedicine.medical_specialtyPathologyAdolescentEndocrinology Diabetes and MetabolismDiseaseLysosomal acid lipase deficiencyBiochemistryGastroenterologyDiagnosis Differential03 medical and health sciences0302 clinical medicineEndocrinologyInternal medicineGeneticsmedicineLysosomal storage diseaseHumansChildMolecular BiologyTriglyceridesNiemann-Pick DiseasesGaucher Diseasebusiness.industryWolman DiseaseInfantEnzyme replacement therapySterol Esterasemedicine.diseaseClinical trial030104 developmental biologyEarly DiagnosisSebelipase alfaDisease Progression030211 gastroenterology & hepatologyFemaleCholesterol EstersDifferential diagnosisbusinessDyslipidemiaMolecular genetics and metabolism
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Overactivation of the endocannabinoid system alters the antilipolytic action of insulin in mouse adipose tissue.

2017

Evidence has accumulated that obesity-related metabolic dysregulation is associated with overactivation of the endocannabinoid system (ECS), which involves cannabinoid receptor 1 (CB1R), in peripheral tissues, including adipose tissue (AT). The functional consequences of CB1R activation on AT metabolism remain unclear. Since excess fat mobilization is considered an important primary event contributing to the onset of insulin resistance, we combined in vivo and in vitro experiments to investigate whether activation of ECS could alter the lipolytic rate. For this purpose, the appearance of plasma glycerol was measured in wild-type and CB1R−/− mice after acute anandamide administration or inh…

0301 basic medicineMalemedicine.medical_specialtyPhysiologyEndocrinology Diabetes and Metabolismmedicine.medical_treatmentAdipose tissue030209 endocrinology & metabolismBiologyFatty Acids NonesterifiedCANNABINOID RECEPTOR 103 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineInsulin resistanceDownregulation and upregulationReceptor Cannabinoid CB1Physiology (medical)Internal medicineinsulin resistancemedicineLipolysisAnimalsInsulinendocannabinoid systemInsulinHydrolysis[ SDV.MHEP.EM ] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismmedicine.diseaseEndocannabinoid systemUp-RegulationJZL195Mice Inbred C57BLcannabinoid receptor 1030104 developmental biologyEndocrinologychemistryAdipose TissuelipolysisJZL195Endocannabinoids
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Patients with advanced oral squamous cell carcinoma have high levels of soluble E-cadherin in the saliva

2017

Background: The objective of this study was to assess the potential clinical value of the concentration of soluble salivary E-cadherin (sE-cadherin) compared with the clinical value of the resence of membranous E-cadherin (mE-cadherin) in oral squamous cell carcinoma tumor tissues. Material and Methods: Data regarding patient demographics, clinical stage, saliva and tumor tissue samples were collected. The saliva was analyzed for sE-cadherin protein levels and was compared to the mE-cadherin immunohistochemical expression levels in tumor tissues, which were assessed via the HercepTest® method. Patients without cancer were included in the study as a control group for comparisons of the sE-ca…

0301 basic medicineMalemedicine.medical_specialtySalivaE-cadher.inDiseaseGastroenterology03 medical and health sciences0302 clinical medicineInternal medicinemedicineCarcinomaHumansStage (cooking)SalivaGeneral DentistryLymph nodeNeoplasm StagingOral Medicine and PathologyCadherinbusiness.industryResearchOral cancerCancerMiddle Agedmedicine.disease:CIENCIAS MÉDICAS [UNESCO]Cadherins030104 developmental biologymedicine.anatomical_structureOtorhinolaryngology030220 oncology & carcinogenesisUNESCO::CIENCIAS MÉDICASCarcinoma Squamous CellImmunohistochemistrySurgeryFemaleMouth Neoplasmsbusiness
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Fate-Mapping of GM-CSF Expression Identifies a Discrete Subset of Inflammation-Driving T Helper Cells Regulated by Cytokines IL-23 and IL-1β.

2019

Summary Pathogenic lymphocytes initiate the development of chronic inflammatory diseases. The cytokine granulocyte-macrophage colony-stimulating factor (GM-CSF) (encoded by Csf2) is a key communicator between pathogenic lymphocytes and tissue-invading inflammatory phagocytes. However, the molecular properties of GM-CSF-producing cells and the mode of Csf2 regulation in vivo remain unclear. To systematically study and manipulate GM-CSF+ cells and their progeny in vivo, we generated a fate-map and reporter of GM-CSF expression mouse strain (FROG). We mapped the phenotypic and functional profile of auto-aggressive T helper (Th) cells during neuroinflammation and identified the signature and pa…

0301 basic medicineMalemedicine.medical_treatmentImmunologyInterleukin-1betaInflammation610 Medicine & health10071 Functional Genomics Center ZurichBiology10263 Institute of Experimental Immunology03 medical and health sciencesInterferon-gammaMice0302 clinical medicineFate mappingImmunopathologymedicineInterleukin 23Immunology and AllergyAnimalsReceptorNeuroinflammationReceptors CXCR6InflammationMice KnockoutReceptors Interleukin-1 Type I2403 ImmunologyTumor Necrosis Factor-alphaGranulocyte-Macrophage Colony-Stimulating Factor2725 Infectious DiseasesReceptors InterleukinTh1 CellsPhenotype3. Good healthCell biology10040 Clinic for NeurologyMice Inbred C57BL030104 developmental biologyInfectious DiseasesCytokine030220 oncology & carcinogenesis2723 Immunology and AllergyInterleukin-23 Subunit p19570 Life sciences; biologyTh17 CellsFemalemedicine.symptomImmunity
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Young Adult and Usual Adult Body Mass Index and Multiple Myeloma Risk: A Pooled Analysis in the International Multiple Myeloma Consortium (IMMC)

2017

AbstractBackground: Multiple myeloma risk increases with higher adult body mass index (BMI). Emerging evidence also supports an association of young adult BMI with multiple myeloma. We undertook a pooled analysis of eight case–control studies to further evaluate anthropometric multiple myeloma risk factors, including young adult BMI.Methods: We conducted multivariable logistic regression analysis of usual adult anthropometric measures of 2,318 multiple myeloma cases and 9,609 controls, and of young adult BMI (age 25 or 30 years) for 1,164 cases and 3,629 controls.Results: In the pooled sample, multiple myeloma risk was positively associated with usual adult BMI; risk increased 9% per 5-kg/m…

0301 basic medicineMaleobesityprocedureEpidemiologygroups by ageOverweightcancer riskBody Mass Index[ SDV.CAN ] Life Sciences [q-bio]/Cancer0302 clinical medicinestudy designRisk Factorsmiddle agedYoung adultrisk factor AdultMultiple myeloma2. Zero hungereducation.field_of_studyanthropometryadultrisk assessment3. Good healthmultiple myelomafemaleOncologypriority journal030220 oncology & carcinogenesisyoung adultmedicine.symptomCase-Control Studiemedicine.medical_specialtymultivariate logistic regression analysiPopulation[SDV.CAN]Life Sciences [q-bio]/CancerArticle03 medical and health sciencesInternal medicinemedicineHumanshumaneducationAgedbusiness.industryCase-control studyAnthropometrycase control studymedicine.diseaseConfidence interval030104 developmental biologyEndocrinologyCase-Control StudiespathologybusinessBody mass indexbody ma
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Impairment of Everyday Spatial Navigation Abilities in Mild Cognitive Impairment Is Weakly Associated with Reduced Grey Matter Volume in the Medial P…

2020

Alzheimer’s Disease Neuroimaging Initiative.

0301 basic medicineMalephysiopathology [Cognitive Dysfunction]positron emission tomographypathology [Cognitive Dysfunction]diagnostic imaging [Cognitive Dysfunction]grid cellsAudiologySpatial memoryVolumetry0302 clinical medicinepathology [Gray Matter]Activities of Daily Livingmagnetic resonance imagingEntorhinal CortexGray MatterAged 80 and overGeneral NeuroscienceGgrid cellsCognitionGeneral MedicineHuman brainOrgan SizeMiddle AgedMagnetic Resonance ImagingPsychiatry and Mental healthClinical Psychologymedicine.anatomical_structureFemalediagnostic imaging [Entorhinal Cortex]Spatial NavigationPositron emission tomographymedicine.medical_specialtyphysiology [Spatial Navigation]spatial navigationGrey matter03 medical and health sciencesAtrophymild cognitive impairmentNeuroimagingFluorodeoxyglucose F18medicineHumansCognitive Dysfunctionddc:610Entorhinal cortexAgedvolumetrybusiness.industrydiagnostic imaging [Gray Matter]Mild cognitive impairmentpathology [Entorhinal Cortex]Entorhinal cortexmedicine.disease030104 developmental biologyPositron-Emission TomographyBrodmann area 34Geriatrics and Gerontology18F-fluorodeoxyglucoseAtrophyRadiopharmaceuticalsbusiness030217 neurology & neurosurgeryJournal of Alzheimer's disease : JAD
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Native Mitral Valve Endocarditis Caused by Neisseria elongata subsp. nitroreducens in a Patient with Marfan Syndrome: First Case in Italy and Review …

2016

Neisseria elongata(NE) is an aerobic Gram-negative organism that constitutes part of the commensal human normal oropharyngeal flora. Although previously considered not to be pathogenic, it has been recognized as an occasional cause of significant infections in humans. We report here the first case in Italy of infective endocarditis of a native prolapsing mitral valve in a patient with Marfan syndrome, caused by NE subspeciesnitroreducenswhich has been rarely isolated from clinical specimens. The culprit organism has been confirmed by mass spectrometry directly from the positive blood culture, as previously reported. The amplified gene has been deposited in GenBank under accession number KT5…

0301 basic medicineMarfan syndromePathologymedicine.medical_specialty030106 microbiologyCase Report030204 cardiovascular system & hematologyMicrobiologylcsh:Infectious and parasitic diseases03 medical and health sciencesMitral valve endocarditis0302 clinical medicineMitral valveMedicineEndocarditislcsh:RC109-216Neisseria elongata subsp nitroreducensNeisseria elongatabiologybusiness.industryGeneral MedicineNeisseria elongatabiology.organism_classificationmedicine.diseasemedicine.anatomical_structureInfective endocarditisPositive blood cultureendocarditisbusinessCase Reports in Infectious Diseases
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Tissue expansion of lung bronchi due to tissue processing for histology – A comparative analysis of paraffin versus frozen sections in a pig model

2019

Tissue shrinking due to fixation and processing is well known. However, the degree of shrinking varies significantly with the tissue type as well as the processing method and is not well studied in various tissues. In daily pathological routine workflow, histological specimens from frozen and paraffin sections are performed from the same tissue. In the present study we compared the thickness of bronchus walls obtained from paraffin and frozen sections.Pig lungs were frozen in ventilated condition in liquid nitrogen and 36 bronchi were isolated after dissection. Frozen sections of 5 μm thickness were performed and the remaining tissue was fixed and embedded in paraffin after fixation in 4% f…

0301 basic medicineMaterials scienceSwinemedicine.medical_treatmentBronchiHaematoxylinSpecimen HandlingPathology and Forensic Medicine03 medical and health scienceschemistry.chemical_compound0302 clinical medicinemedicineAnimalsFrozen SectionsLungFixation (histology)BronchusFrozen section procedureParaffin Embeddingbusiness.industryTissue ProcessingHistologyCell BiologyStaining030104 developmental biologymedicine.anatomical_structurechemistry030220 oncology & carcinogenesisNuclear medicinebusinessTissue expansionPathology - Research and Practice
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Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

2016

Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P=2.55 × 10−11), 6p25.2 (rs73718779, SERPINB6, P=1.97 × 10−8) and 3q28 (rs9815073, LPP, P=3.62 × 10−8), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P=1.00 × 10−11) in the combined analysis. We find suggestive evidence (P<5 × 10−…

0301 basic medicineMedicin och hälsovetenskapChronic lymphocytic leukemiaGeneral Physics and AstronomyGenome-wide association studyVARIANTSMedical and Health SciencesMalalties hereditàries[ SDV.MHEP.HEM ] Life Sciences [q-bio]/Human health and pathology/HematologyChronicGeneticsRISKLeukemiaMultidisciplinaryBANK1VDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin sosialmedisin: 801Bcl-2-Like Protein 11QAdaptor Proteins[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologySingle NucleotideLymphocytic3. Good healthPRIORITIZATIONMultidisciplinary SciencesLeukemiamedicine.anatomical_structureScience & Technology - Other TopicsTRANSCRIPTION FACTOR EOMESODERMINGenetic disordersEXPRESSIONSUSCEPTIBILITY LOCIScienceEuropean Continental Ancestry GroupFAS GENE-MUTATIONSLocus (genetics)BiologyPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyCLASSIFICATIONWhite PeopleArticle03 medical and health sciencesProto-Oncogene ProteinsMD MultidisciplinarymedicineGenetic predispositionSNPHumansLeucèmia limfocítica crònicaGenetic Predisposition to DiseasePolymorphismB cellSerpinsGenetic associationAdaptor Proteins Signal TransducingScience & TechnologySignal TransducingB-CellMembrane ProteinsGeneral Chemistrymedicine.diseaseLeukemia Lymphocytic Chronic B-Cell030104 developmental biologyChronic lymphocytic leukemiaVDP::Medical disciplines: 700::Health sciences: 800::Community medicine Social medicine: 801Apoptosis Regulatory ProteinsT-Box Domain ProteinsFOLLICULAR LYMPHOMAGenome-Wide Association Study
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Identification of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome-associated DNA methylation patterns.

2018

BackgroundMyalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a complex condition involving multiple organ systems and characterized by persistent/relapsing debilitating fatigue, immune dysfunction, neurological problems, and other symptoms not curable for at least 6 months. Disruption of DNA methylation patterns has been tied to various immune and neurological diseases; however, its status in ME/CFS remains uncertain. Our study aimed at identifying changes in the DNA methylation patterns that associate with ME/CFS.MethodsWe extracted genomic DNA from peripheral blood mononuclear cells from 13 ME/CFS study subjects and 12 healthy controls and measured global DNA methylation by EL…

0301 basic medicineMicroarrayMicroarraysPathology and Laboratory MedicineBiochemistryEpigenesis GeneticCohort StudiesMedicine and Health SciencesSmall nucleolar RNAsPromoter Regions GeneticFatigueAntisense RNARegulation of gene expressionMultidisciplinaryDNA methylationFatigue Syndrome ChronicQRMethylationGenomicsMiddle AgedChromatin3. Good healthNucleic acidsBioassays and Physiological AnalysisCpG siteDNA methylationMedicineEpigeneticsFemaleDNA microarrayDNA modificationChromatin modificationResearch ArticleChromosome biologymusculoskeletal diseasesCell biologyScienceBiologyResearch and Analysis Methods03 medical and health sciencesSigns and SymptomsGenomic MedicineDiagnostic MedicineChronic fatigue syndromemedicineGeneticsHumansGene RegulationEpigeneticsNon-coding RNABiology and life sciencesDNAmedicine.diseaseMicroarray Analysis030104 developmental biologyImmunologyRNACpG IslandsGene expressionPLoS ONE
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