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Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features

2020

Abstract Background and aims Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extremely elevated plasma levels of low density lipoprotein cholesterol (LDL-C) and high risk of premature atherosclerotic cardiovascular disease (ASCVD). HoFH is caused by pathogenic variants in several genes, such as LDLR, APOB and PCSK9, responsible for autosomal dominant hypercholesterolemia (ADH), and LDLRAP1 responsible for autosomal recessive hypercholesterolemia (ARH). Aim of this study was the review of the clinical and molecular features of patients with HoFH identified in Italy from 1989 to 2019. Methods Data were collected from lipid clinics and laboratories, …

Adult0301 basic medicinemedicine.medical_specialtyCandidate geneCandidate geneGenotype-phenotype correlationApolipoprotein BCandidate genes; Genotype-phenotype correlations; Homozygous familial hypercholesterolemia; Pathogenic variantsHomozygous familial hypercholesterolemiaGenotype-phenotype correlationsFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityCandidate genesHyperlipoproteinemia Type II03 medical and health sciences0302 clinical medicineInternal medicinemedicineHumansbiologybusiness.industryPCSK9HomozygoteGenetic disorderPathogenic variantsCandidate genes; Genotype-phenotype correlations; Homozygous familial hypercholesterolemia; Pathogenic variants;medicine.diseasePhenotype030104 developmental biologyEndocrinologyItalyReceptors LDLAutosomal Recessive HypercholesterolemiaMutationLDL receptorbiology.proteinlipids (amino acids peptides and proteins)Proprotein Convertase 9Cardiology and Cardiovascular Medicinebusiness
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Human immunodeficiency virus infection mimics autoimmune hepatitis--a case report.

1988

AdultAcquired Immunodeficiency SyndromeHepatitis Viral Humanbusiness.industryHuman immunodeficiency virus (HIV)AIDS SerodiagnosisHIVGeneral MedicineAutoimmune hepatitismedicine.disease_causemedicine.diseaseVirologyMolecular medicineHuman geneticsAutoimmune DiseasesDiagnosis DifferentialLiverDrug DiscoverymedicineMolecular MedicineHumansFemalebusinessGenetics (clinical)Klinische Wochenschrift
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Accuracy and accommodation capability of a handheld autorefractor

2000

Purpose: To determine the accuracy of measurement by the Nikon Retinomax handheld autorefractor and its ability to relax accommodation. Setting: Pediatric Section, Department of Ophthalmology, University of Mainz, Germany. Methods: To perform a series of comparative measurements, autorefractor readings were obtained on healthy young adults (students) and on children aged 2 to 12 years. The autorefractor readings were compared with subjective refractions of the young adults and with cycloplegic retinoscopy of the children. Results: In adults, the accuracy of the handheld autorefractor measurements was comparable to that of conventional tabletop autorefractors. In children, the autorefractor …

AdultAgingmedicine.medical_specialtygenetic structuresOcular refractionRefraction OcularOcular physiologyReference ValuesOphthalmologymedicineHumansChildDioptreRetinoscopyElectronic Data Processingmedicine.diagnostic_testbusiness.industryVision TestsAutorefractorsAccommodation OcularReproducibility of ResultsCycloplegiaRefractive ErrorsSensory SystemsOphthalmologyAutorefractorChild PreschoolOptometrySurgerymedicine.symptombusinessAccommodationJournal of Cataract and Refractive Surgery
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Dosage individualization of erythropoietin using a profile-dependent support vector regression

2003

The external administration of recombinant human erythropoietin is the chosen treatment for those patients with secondary anemia due to chronic renal failure in periodic hemodialysis. The objective of this paper is to carry out an individualized prediction of the EPO dosage to be administered to those patients. The high cost of this medication, its side-effects and the phenomenon of potential resistance which some individuals suffer all justify the need for a model which is capable of optimizing dosage individualization. A group of 110 patients and several patient factors were used to develop the models. The support vector regressor (SVR) is benchmarked with the classical multilayer percept…

AdultAnemia HemolyticInjections SubcutaneousAutoregressive conditional heteroskedasticityBiomedical EngineeringMachine learningcomputer.software_genreCohort StudiesHemoglobinsRenal DialysisFeature (machine learning)HumansMedicineSensitivity (control systems)Time seriesErythropoietinAgedAged 80 and overArtificial neural networkbusiness.industryMiddle AgedRecombinant ProteinsRegressionDrug Therapy Computer-AssistedRegression PsychologySupport vector machineTreatment OutcomeMultilayer perceptronKidney Failure ChronicNeural Networks ComputerArtificial intelligencebusinesscomputerAlgorithmsBiomedical engineeringIEEE Transactions on Biomedical Engineering
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T cell receptor gene rearrangements of T lymphocytes infiltrating the liver in chronic active hepatitis B and primary biliary cirrhosis (PBC): Oligoc…

1990

Immunological events are involved in the pathophysiology of chronic active hepatitis as indicated from the accumulation of T lymphocytes at the site of tissue damage. We generated T cell clones from liver biopsies of 3 patients with chronic active hepatitis B and 2 patients with primary biliary cirrhosis. These T cell clones (n = 84) were analyzed by means of T cell receptor (TcR) beta gene rearrangements to determine whether the infiltrate consists of a polyclonal or oligoclonal T cell population. The vast majority (62 of 64) of T cell clones from three different patients with chronic active hepatitis B showed no identical rearrangements of the TcR beta chain genes. In marked contrast, in …

AdultAntigens Differentiation T-LymphocyteCD8 AntigensT-LymphocytesT cellBiliary cirrhosisImmunologyBiologyGene Rearrangement T-LymphocyteAutoimmune DiseasesPrimary biliary cirrhosisAntigenmedicineHumansImmunology and AllergyCytotoxic T cellAgedHepatitis ChronicHepatitisLiver Cirrhosis BiliaryT-cell receptorT lymphocyteMiddle Agedmedicine.diseaseClone CellsPhenotypemedicine.anatomical_structureLiverCD4 AntigensImmunologyFemaleEuropean Journal of Immunology
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Influence of digoxin on sinus node function after pharmacologic autonomic blockade.

1983

The effect of iv digoxin on normal sinus node function was studied after pharmacologic autonomic blockade (AB) in ten patients. Sinus cycle length (SCL), sinus node recovery time (SNRT) and sinoatrial conduction time (SACT) were determined before and after AB with propranolol (0.2 mg/kg body weight) and atropine sulfate (0.04 mg/kg body weight) iv, and 15 min, 30 min, and 45 min after 1 mg iv digoxin. AB resulted in a significant decrease (P less than 0.01) in SCL (916 +/- 158 to 716 +/- 120 ms), in SNRT (1,229 +/- 221 to 871 +/- 190 ms), and in SACT (79 +/- 34 to 44 +/- 10 ms). Fifteen minutes after iv digoxin there was no significant change observed in SCL (716 +/- 120 to 708 +/- 92 ms), …

AdultAtropineMaleDigoxinDigoxinPropranololTherapeutic indexDrug DiscoveryAutonomic blockademedicineAtropine sulfateHumansCycle lengthGenetics (clinical)AgedSinoatrial NodeChemistryGeneral MedicineMiddle AgedPropranololSinus node functionAnesthesiaMolecular MedicineFemalemedicine.drugSinoatrial conductionKlinische Wochenschrift
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Nonlinear coupling is absent in acute myocardial patients but not healthy subjects.

2008

We investigated whether autonomic nervous system imbalance imposed by pharmacological blockades and associated with acute myocardial infarction (AMI) is manifested as modifications of the nonlinear interactions in heart rate variability signal using a statistically based bispectrum method. The statistically based bispectrum method is an ideal approach for identifying nonlinear couplings in a system and overcomes the previous limitation of determining in an ad hoc way the presence of such interactions. Using the improved bispectrum method, we found significant nonlinear interactions in healthy young subjects, which were abolished by the administration of atropine but were still present afte…

AdultAtropineMaleSympathetic Nervous SystemPhysiologyAdrenergic beta-AntagonistsModels NeurologicalMyocardial InfarctionMuscarinic AntagonistsElectrocardiographyHeart RateParasympathetic Nervous SystemPhysiology (medical)medicineAutonomic nervous systemHumansMyocardial infarctionNonlinear couplingHeart rate variabilityAgedBispectrumModels Statisticalbusiness.industryHealthy subjectsAge FactorsModels CardiovascularReproducibility of ResultsHeartMiddle Agedmedicine.diseasePropranololAutonomic nervous systemNonlinear DynamicsAnesthesiaCase-Control StudiesSettore ING-INF/06 - Bioingegneria Elettronica E InformaticaFemalebusinessCardiology and Cardiovascular MedicineAlgorithmsAmerican journal of physiology. Heart and circulatory physiology
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Ranking the impact of human health disorders on gut metabolism: Systemic lupus erythematosus and obesity as study cases

2015

Multiple factors have been shown to alter intestinal microbial diversity. It remains to be seen, however, how multiple collective pressures impact the activity in the gut environment and which, if any, is positioned as a dominant driving factor determining the final metabolic outcomes. Here, we describe the results of a metabolome-wide scan of gut microbiota in 18 subjects with systemic lupus erythematosus (SLE) and 17 healthy control subjects and demonstrate a statistically significant difference (p < 0.05) between the two groups. Healthy controls could be categorized (p < 0.05) based on their body mass index (BMI), whereas individuals with SLE could not. We discuss the prevalence of SLE c…

AdultAutoimmunityGut floramedicine.disease_causeArticleAutoimmunityBody Mass IndexmedicineHomeostasisHumansLupus Erythematosus SystemicMetabolomicsClinical significanceMicrobiomeObesityMultidisciplinaryLupus erythematosusbiologyMicrobiotaCase-control studyMiddle Agedmedicine.diseasebiology.organism_classificationObesityN-Acetylneuraminic AcidGastrointestinal TractCase-Control StudiesImmunologyMetabolomeFemaleMicrobiomeBody mass indexMetabolic Networks and PathwaysScientific Reports
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Carotid intima-media thickness measurement through semi-automated detection software and analysis of vascular walls

2013

AIM: The aim of the present study was to compare the semi-automatic measurement of carotid intima thickness (RFQIMT - Esaote, Italy), with the conventional method. METHODS: We enrolle 81 patients, mean age 46 years ±15, with no history of cardio-cerebrovascular events and we assessed the traditional cardiovascular risk factors. We examined the IMT of the common carotid artery with manual and RFQIMT method (based on the "Radio Frequency" signal), according to the ASE protocol. RESULTS: Semi-automatic measurement was on average lower than manual measurement (617 μm ±191 vs. 676 μm ± 222) with a statistically significant difference (P<0.01). In agreement with manual measurements, the values of…

AdultAutomation LaboratoryCarotid Artery DiseasesCarotid Artery CommonCarotid intima media thickness - Radio frequency identification device - Cardiovascular diseaseAge FactorsMiddle AgedCarotid Intima-Media ThicknessSettore MED/11 - Malattie Dell'Apparato CardiovascolarePredictive Value of TestsRisk FactorsImage Interpretation Computer-AssistedHumans
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Motion-Cuing Algorithms

2015

Objective:The aim of this study was to characterize the human response to motion-cuing algorithms (MCAs) by comparing users’ perception to several proposed objective indicators.Background:Other researchers have proposed several MCAs, but few improvements have been achieved lately. One of the reasons for this lack of progress is that fair comparisons between different algorithms are hard to achieve, for their evaluation needs to be performed with humans and the tuning process is slow.Method:This characterization is performed by means of a comparison of the subjective perception of vehicle simulation users (90 participants) against several proposed objective indicators that try to measure MCA…

AdultAutomobile DrivingEngineeringInjury controlAccident preventionmedia_common.quotation_subjectPoison controlTransportationHuman Factors and ErgonomicsMotion (physics)MotionYoung AdultBehavioral NeurosciencePerceptionTask Performance and AnalysisHumansComputer SimulationMotion perceptionApplied Psychologymedia_commonbusiness.industryEquipment DesignMiddle AgedHuman engineeringAutomobile drivingPerceptionErgonomicsCuesbusinessAlgorithmAlgorithmsHuman Factors: The Journal of the Human Factors and Ergonomics Society
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