Search results for "FD"

showing 10 items of 483 documents

Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders

2004

Mutations in ABCA1 have been shown to be the cause of Tangier disease (TD) and some forms of familial hypoalphalipoproteinemia (HA), two genetic disorders characterized by low plasma HDL levels. Here we report six subjects with low HDL, carrying seven ABCA1 mutations, six of which are previously unreported. Two mutations (R557X and H160FsX173) were predicted to generate short truncated proteins; two mutations (E284K and Y482C) were located in the first extracellular loop and two (R1901S and Q2196H) in the C-terminal cytoplasmic domain of ABCA1. Two subjects found to be compound heterozygotes for ABCA1 mutations did not have overt clinical manifestations of TD. Three subjects, all with prema…

AdultMalemedicine.medical_specialtyHeterozygoteSettore MED/09 - Medicina InternaApolipoprotein BAdolescentPremature coronary artery diseaseTangier diseaseCoronary DiseaseBiologyGene mutationmedicine.disease_causeCompound heterozygosityTangier diseaseInternal medicineGenotypeABCA1 genemedicineHumansChildHypoalphalipoproteinemiaSelection BiasAgedApolipoproteins BGeneticsMutationFamilial defective Apo B (FDB)Apolipoprotein A-ICholesterol HDLnutritional and metabolic diseasesMiddle Agedmedicine.diseaseLipoprotein lipaseTangier disease; Familial HDL deficiency; ABCA1 gene; Familial defective Apo B (FDB); Lipoprotein lipase; Premature coronary artery diseaseEndocrinologyChild PreschoolMutationbiology.proteinlipids (amino acids peptides and proteins)Allelic heterogeneityATP-Binding Cassette TransportersFemaleCardiology and Cardiovascular MedicineFamilial HDL deficiencyATP Binding Cassette Transporter 1
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Prognostic role of FDG PET/CT in patients with differentiated thyroid cancer treated with 131-iodine empiric therapy

2017

Abstract Background: To assess the long-term prognostic value of 18F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) in patients with differentiated thyroid carcinoma (DTC) undergoing empiric radioiodine (RAI) therapy due to raising values of thyroglobulin (Tg). Methods: Forty-nine patients with histological diagnosis of DTC (31 with papillary and 18 with follicular carcinoma) follow-up for a mean period of 7.9 ± 5 years after empiric RAI therapy were retrospectively analyzed. Results: FDG-PET/CT was negative in 15 (30.6%) patients and positive in 34 (69.4%), whereas postradioiodine therapy whole body scan (t-WBS) was negative in 16 (32.7%) and positive in…

AdultMalemedicine.medical_specialtymedicine.medical_treatment18F-FDG-PET/CTchemistry.chemical_elementIodinethyroglobulinDiagnostic Accuracy StudyDisease-Free Survival030218 nuclear medicine & medical imagingThyroid carcinomaIodine Radioisotopes03 medical and health sciences0302 clinical medicineFluorodeoxyglucose F18Positron Emission Tomography Computed TomographymedicineHumansThyroid NeoplasmsThyroid cancerdifferentiated thyroid carcinomaAgedRetrospective Studies18F-FDG-PET/CT differentiated thyroid carcinoma empiric therapy prognosis thyroglobulin4300medicine.diagnostic_testbusiness.industryRetrospective cohort studyempiric therapyGeneral MedicineMiddle Agedmedicine.diseasechemistryPositron emission tomography030220 oncology & carcinogenesisF-18-FDG-PETHistopathologyThyroglobulinFemaleRadiologyprognosisRadiopharmaceuticalsNuclear medicinebusinessEmpiric therapyCTResearch Article
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VITAMIN K-INDUCED MODIFICATION OF COAGULATION PHENOTYPE IN VKORC1 HOMOZYGOUS DEFICIENCY

2008

Summary.  Background: Combined vitamin K-dependent clotting factor (VKCF) deficiency type 2 (VKCFD2) is a rare bleeding disorder caused by mutated vitamin K 2,3-epoxide reductase complex subunit 1 (VKORC1) gene. Methods and results: An Italian patient with moderate to severe bleeding tendency was genotyped, and found to be homozygous for the unique VKORC1 mutation (Arg98Trp) so far detected in VKCFD2. The activity levels of VKCFs were differentially reduced, and inversely related to the previously estimated affinity of procoagulant factor propeptides for the γ-carboxylase. The normal (factor IX) or reduced antigen levels (other VKCFs) produced a gradient in specific activities. Vitamin K su…

Adultmedicine.medical_specialtycoagulation factor levelsVitamin KProtein SMixed Function OxygenasesTissue factorchemistry.chemical_compoundInternal medicineVitamin K Epoxide ReductasesmedicineVKCFD2HumansFactor IXClotting factorCoagulation factor levels; Thrombin generation; Vitamin K supplementation; VKCFD2; VKORC1 mutation;biologyFactor VIIChemistryFactor XHomozygotevitamin K supplementationHematologyBlood Coagulation DisordersEndocrinologyTreatment OutcomeCoagulationthrombin generationImmunologyMutationbiology.proteinFemaleBlood Coagulation TestsVKCFD2 VKORC1 mutation coagulation factor levels thrombin generation vitamin K supplementationProtein Cmedicine.drugHalf-LifeVKORC1 mutation
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Predicting Outcome of Aortic Dissection with Patent False Lumen by Computational Flow Analysis

2014

Although Type B aortic dissection (AoD) has better in-hospital survival than Type A AoD, the short- and long term outcome for patients remains challenging, with 50–80% deaths at 5-years. Dissection-related complications include rapid aortic expansion, impending rupture, and malperfusion syndromes. We aimed to assess hemodynamic implications of patients with patent false lumen (FL) of dissected aorta. Computational fluid dynamic analyses were performed on patient-specific aortic geometries reconstructed from computed tomography scans of 25 patients with AoDs, who were admitted in our hospital from 2007 to 2013. We used the development of acute complications and chronic aneurysmal evolution a…

Aortic dissectionAortamedicine.medical_specialtyFlowbusiness.industryBiomedical EngineeringFalse LumenHemodynamicsBlood flowmedicine.diseaseType B Aortic DissectionSurgerySettore ING-IND/14 - Progettazione Meccanica E Costruzione Di MacchineBlood pressuremedicine.arteryInternal medicineLinear regressionmedicineCardiologyTearsCFDCardiology and Cardiovascular MedicineAdverse effectbusinessCardiovascular Engineering and Technology
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Comparison of hemodynamic and structural indices of ascending thoracic aortic aneurysm as predicted by 2-way FSI, CFD rigid wall simulation and patie…

2018

Patient-specific computational modeling is increasingly being used to predict structural and hemodynamic parameters, especially when current clinical tools are not accessible. Indeed, pathophysiology of ascending thoracic aortic aneurysm (ATAA) has been simulated to quantify the risk of complications by novel prognostic parameters and thus to improve the clinical decision-making process related to the intervention of ATAAs. In this study, the relevance of aneurysmal wall elasticity in determining parameters of clinical importance, such as the wall shear stress (WSS), is discussed together with the significance of applying realistic boundary conditions to consider the aortic stretch and twis…

Aortic valveAdultMalePatient-Specific Modelingmedicine.medical_specialtyComputer science0206 medical engineeringFinite Element Analysisaorti failureHeart Valve DiseasesHemodynamicsFluid-solid interaction (FSI)Health Informatics02 engineering and technology030204 cardiovascular system & hematologyComputational fluid dynamicsThoracic aortic aneurysm03 medical and health sciences0302 clinical medicineBicuspid aortic valveBicuspid Aortic Valve DiseaseInternal medicinemedicineShear stressHumansComputer SimulationAgedAortic Aneurysm ThoracicStructural mechanicsbusiness.industryFinite element analysis (FEA)Models CardiovascularMiddle Agedmedicine.diseaseAscending thoracic aortic aneurysm020601 biomedical engineeringFinite element methodElasticityComputer Science Applicationsmedicine.anatomical_structureComputational fluid-dynamic (CFD)Aortic Valvecardiovascular systemCardiologyFemaleStress Mechanicalbusiness
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On the severity of aortic stenosis in ascending aortic aneurysm: A computational tool to examine ventricular-arterial interaction and aortic wall str…

2020

Abstract An ascending thoracic aortic aneurysm (ATAA) is a life-threatening cardiovascular consequence of vessel dilatation that portends adverse events and death. From a clinical perspective, ATAA should not be treated as an isolated disease, and surgery is often carried out in the presence of AS, aortic insufficiency or a calcified valve leaflet. Aortic stenosis (AS) is common in ATAAs and leads to both vessel rigidity and left ventricular (LV) impairment. In this study, lumped-parameter modeling and computational analysis were used to assess the change in the wall shear stress (WSS) and intramural wall stress of patient-specific ATAA models with different degrees of AS (i.e., mild to sev…

Aortic valvemedicine.medical_specialtyHemodynamicsThoracic aortic aneurysmImaging dataAortic aneurysmInternal medicinemedicineGeneral Materials ScienceIn patientFinite-element analysisCivil and Structural EngineeringShear stressbusiness.industryAortic stenosisMechanical EngineeringAscending thoracic aortic aneurysmCondensed Matter Physicsmedicine.diseaseAortic wallStenosismedicine.anatomical_structureMechanics of Materialscardiovascular systemCardiologyCFDbusinessMechanics Research Communications
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Dense-Cloud Atmospheric Dispersion in Complex-Terrain Sites

2003

Atmospheric DispersionPollutant DispersionSettore ING-IND/25 - Impianti ChimiciDense GaCFDSettore ING-IND/19 - Impianti Nucleari
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An evaluation of the estimation of road traffic emission factors from tracer studies

2010

Road traffic emission factors (EFs) are one of the main sources of uncertainties in emission inventories; it is necessary to develop methods to reduce these uncertainties to manage air quality more efficiently. Recently an alternative method has been proposed to estimate the EFs. In that work the emission factors were estimated from a long term tracer study developed in Ho Chi Minh City (HCMC) Vietnam. A passive tracer was continuously emitted from a finite line source placed in one side of an urban street canyon. Simultaneously, the resulting tracer concentrations were monitored at the other side of the street. The results of this experiment were used to calculate the dispersion factors an…

Atmospheric Sciencemodel validationPart Ii010504 meteorology & atmospheric sciencesMeteorologyStreet CanyonsField010501 environmental sciencesComputational fluid dynamics01 natural sciencesLine sourceDispersion ModelsPollutant DispersionTRACER11. SustainabilityRange (statistics)Statistical dispersionEmission inventoryAir quality index0105 earth and related environmental sciencesGeneral Environmental ScienceWind tunneltracer studiesFlowbusiness.industrystreet canyon[SHS.GEO]Humanities and Social Sciences/GeographyAir-QualityParticles13. Climate actionEnvironmental scienceWind-TunnelbusinessSimulationreal-world motor vehicle emissionsComputational Fluids Dynamics (CFD)
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Computer Fluid Dynamics Assessment of an Active Ventilated Façade Integrating Distributed MPPT and Battery

2019

Ventilated Façades integrated with photovoltaic panels have become a popular way to improve both the thermal-physical performances of the existing built environment. The increased usage of not-programmable renewable energy sources implies the adoption of energy storage systems to mitigate the mismatch between the power generation and the building’s demand. Aiming at properly integrates a photovoltaic panel and a battery (Lithium based) as a module of an active ventilated façade, the prototype design has been carried out in terms of thermo-fluid dynamics performance. Based on experimental setup, a numerical study of flow through the air cavity of the active ventilated façade has been carried…

Battery (electricity)Computer fluid dynamicsSettore ING-IND/11 - Fisica Tecnica AmbientaleComputer scienceGeneral EngineeringFacadeBIPV battery ventilated façade CFDMaximum power point trackingAutomotive engineeringTECNICA ITALIANA-Italian Journal of Engineering Science
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Experimental and Computational Fluid Dynamic study of an active ventilated façade integrating battery and distributed MPPT

2019

Ventilated Façades integrating photovoltaic panels are a promising way to improve efficiency and the thermal-physical performances of buildings. Due the inherent intermittence of the non-programmable renewable energy sources, their increasing usage implies the use of energy storage systems to mitigate the mismatch between power generation and the buildings’ load demand. The main purpose of this paper is to investigate the thermo-fluid dynamic performances of a prototype integrating a photovoltaic cell and a battery as a module of an active ventilated façade. Based on an experimental setup, a numerical study in steady state conditions of flow through the air cavity of the module has been car…

Battery (electricity)Settore ING-IND/11 - Fisica Tecnica AmbientaleApplied MathematicsModeling and SimulationBIPVEnvironmental scienceBatteryFacadeCFDEngineering (miscellaneous)Ventilated façadeAutomotive engineeringMaximum power point tracking
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