Search results for " PC"

showing 10 items of 434 documents

Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.

2006

Patients homozygous or Compound heterozygous for LDLR mutations or double heterozygous for LDLR and apo B R3500Q mutation have higher LDL-C levels. more extensive xanthomatosis and more severe premature coronary disease (pCAD) than simple heterozygotes for mutations in either these genes or for missense mutations in PCSK9 gene. It is not known whether combined mutations in LDLR and PKCS9 are associated with such a severe phenotype. We sequenced Apo B and PCSK9 genes in two patients with the clinical diagnosis of homozygous FH who were heterozygous for LDLR gene mutations. Proband Z.P. (LDL-C 13.39 mmol/L and pCAD) was heterozygous for an LDLR mutation (p.E228K) inherited from her father (LD…

ProbandLDLR geneAdultMaleSettore MED/09 - Medicina InternaApolipoprotein BFamilial hypercholesterolemia (FH); Autosomal dominant hypercholesterolemia 3 (ADH3); LDLR gene; PCSK9 gene; Premature coronary artery diseasePremature coronary artery diseaseLDLR PCSK9Mutation MissenseFamilial hypercholesterolemiaCompound heterozygositymedicine.disease_causeHyperlipoproteinemia Type IIFamilial hypercholesterolemia (FH) Autosomal dominant hypercholesterolemia 3 (ADH3) LDLR gene PCSK9 gene Premature coronary artery diseaseFamilial hypercholesterolemia (FH)medicineMissense mutationHumansCells CulturedGeneticsMutationbiologybusiness.industrySerine EndopeptidasesHeterozygote advantageMiddle Agedmedicine.diseaseAutosomal dominant hypercholesterolemia 3 (ADH3)PedigreePhenotypeSettore MED/03 - Genetica MedicaAmino Acid SubstitutionReceptors LDLPCSK9 geneLDL receptorbiology.proteinlipids (amino acids peptides and proteins)FemaleProprotein ConvertasesProprotein Convertase 9Cardiology and Cardiovascular MedicinebusinessAtherosclerosis
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Il processo civile telematico. 2. Duplicati informatici, copie informatiche, attestazione di conformità

2023

L’autore esamina la nuova disciplina, introdotta dal d.lgs. 149/2022 nel codice civile, in materia di duplicati informatici, copie informatiche e attestazione di conformità, evidenziandone le criticità, con particolare riferimento all’insufficiente coordinamento delle disposizioni con il Codice dell’Amministrazione Digitale.

Processo civile telematico PCT Codice dell'Amministrazione Digitale CAD C.A.D. copie duplicati attestazione di conformità fascicolo telematico estrazione comunicazioni di cancelleriaSettore IUS/15 - Diritto Processuale Civile
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PCA and QSAR/QSPR used in combination to predict the drugs mechanism of action. An application to the NCI ACAM Database

2008

QSAR PCA NCI ACAM DatabaseSettore CHIM/08 - Chimica Farmaceutica
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Quality controls for cell cultures: identification of interspecies cross-contamination by PCR-RFLP analysis of the cytochrome b gene

2012

Cross-contaminations of a cell line with cells of different species represent a potential risk in laboratories handling human and animal cells. Therefore, it is necessary to control such contaminations. Tests based on mitochondrial DNA (mtDNA) are used in forensic analysis, phylogenetic studies and in food authentication. However, the use of mtDNA in quality controls of cell cultures is recent. Mitochondrial sequence differences of closely related animal species are five- to tenfold higher than those of nuclear genes. On the contrary, intraspecies variation in mitochondrial sequences is low in most animal species. Moreover, each cell contains 100–10.000 mitochondrial genomes. The amount of …

QUALITY CONTROLS CELL CULTURES INTERSPECIES CROSS-CONTAMINATION PCR-RFLP ANALYSIS CYTOCHROME B GENE
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Feature selection on a dataset of protein families: from exploratory data analysis to statistical variable importance

2016

Proteins are characterized by several typologies of features (structural, geometrical, energy). Most of these features are expected to be similar within a protein family. We are interested to detect which features can identify proteins that belong to a family, as well as to define the boundaries among families. Some features are redundant: they could generate noise in identifying which variables are essential as a fingerprint and, consequently, if they are related or not to a function of a protein family. We defined an original approach to analyze protein features for defining their relationships and peculiarities within protein families. A multistep approach has been mainly performed in R …

Quantitative Biology::Biomoleculesbusiness.industrySparse PCAPattern recognitionFeature selectionLinear discriminant analysisCross-validationRandom forestExploratory data analysisStatistical classificationArtificial intelligencebusinessCluster analysisMathematics
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Generation of stimulus features for analysis of FMRI during natural auditory experiences

2014

In contrast to block and event-related designs for fMRI experiments, it becomes much more difficult to extract events of interest in the complex continuous stimulus for finding corresponding blood-oxygen-level dependent (BOLD) responses. Recently, in a free music listening fMRI experiment, acoustic features of the naturalistic music stimulus were first extracted, and then principal component analysis (PCA) was applied to select the features of interest acting as the stimulus sequences. For feature generation, kernel PCA has shown its superiority over PCA in various applications, since it can implicitly exploit nonlinear relationship among features and such relationship seems to exist genera…

Quantitative Biology::Neurons and CognitionComputer Science::Soundsignaalinkäsittelyfeature extractionfMRIkernel PCAkokeet (tutkimustoiminta)riippumattomien komponenttien analyysiICAPolynomial kernelnaturalistic music
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Combined use of PCA and QSAR/QSPR to predict the drugs mechanism of action. An application to the NCI ACAM Database

2009

During the years the National Cancer Institute (NCI) accumulated an enormous amount of information through the application of a complex protocol of drugs screening involving several tumor cell lines, grouped into panels according to the disease class. The Anti-cancer Agent Mechanism (ACAM) database is a set of 122 compounds with anti-cancer activity and a reasonably well known mechanism of action, for which are available drug screening data that measure their ability to inhibit growth of a panel of 60 human tumor lines, explicitly designed as a training set for neural network and multivariate analysis. The aim of this work is to adapt a methodology (previously developed for the analysis of …

Quantitative structure–activity relationshipMultivariate analysisDatabaseArtificial neural networkMechanism (biology)Computer scienceOrganic Chemistrycomputer.software_genreSettore CHIM/08 - Chimica FarmaceuticaComputer Science ApplicationsSet (abstract data type)Mechanism of actionTest setDrug DiscoveryPrincipal component analysisAnti-cancer Agent Mechanism database PCA QSAR/QSPR Mechanism of actionmedicineData miningmedicine.symptomcomputer
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Study of variability of an endophytic acremonium population in symptomless grapevine

2009

The endophytism of genus Acremonium in symptomless grapevines of several cultivars, grown both in pots or in the field, is reported. The no-tillage management of tested grapevines and the lack of chemical treatments facilitated the investigation of the ecological plant-fungus interaction. The isolates were differentiated at the strain level by vegetative compatibility assay and randomly amplified polymorphic DNA (RAPD) analyses, using a set of four oligo-nucleotide primers. The endophytic Acremonium population in the healthy grapevine object of the survey seemed to show a low variability; all the techniques agreed in grouping the Acremonium strains in three different clusters and no relatio…

RAPD PCRSettore BIO/06 - Anatomia Comparata E Citologia
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Procedural characteristics and outcomes following chronic total occlusion coronary intervention: pooled analysis from 5 registries.

2021

Background Recent improvement in clinical skills, technology and hardware has resulted in improved success rates with chronic total occlusion (CTO) percutaneous coronary intervention (PCI). We performed a study level pooled analysis from the five largest registries of percutaneous coronary intervention (PCI) of CTO. Research design and methods We conducted pooled analysis of 9500 patients in registries and data on procedural characteristics, technical success, and MACCE was collected. Results A total of 9500 patients were included in the analysis. Mean age was 65.4 years with previous CABG in 24.8%, reattempt procedure in 24.8% and mean JCTO score was 2.2. Final wiring strategy in hybrid al…

Research designmedicine.medical_specialtymedicine.medical_treatmentCoronary AngiographyTotal occlusionPercutaneous Coronary InterventionRisk FactorsCardiac tamponadeInternal medicineInternal MedicineMedicineHumansRegistriesStrokeAgedbusiness.industryPercutaneous coronary interventionGeneral Medicinemedicine.diseasePooled analysisTreatment OutcomeCoronary OcclusionConventional PCIChronic DiseaseCardiology and Cardiovascular MedicinebusinessComplicationExpert review of cardiovascular therapy
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Guideline-adherence and perspectives in the acute management of unstable angina - Initial results from the German chest pain unit registry.

2015

Abstract Background We investigated the current management of unstable angina pectoris (UAP) in certified chest pain units (CPUs) in Germany and focused on the European Society of Cardiology (ESC) guideline-adherence in the timing of invasive strategies or choice of conservative treatment options. More specifically, we analyzed differences in clinical outcome with respect to guideline-adherence. Method Prospective data from 1400 UAP patients were collected. Analyses of high-risk criteria with indication for invasive management and 3-month clinical outcome data were performed. Guideline-adherence was tested for a primarily conservative strategy as well as for percutaneous coronary interventi…

Risk profilingMalemedicine.medical_specialtyTime Factorsmedicine.medical_treatmentMedizinCardiologyChest painPatient AdmissionPercutaneous Coronary InterventionRisk FactorsInternal medicineGermanymedicineHumansAcute managementAngina UnstableProspective StudiesRegistriesAgedGuideline adherenceUnstable anginabusiness.industryPercutaneous coronary interventionDisease ManagementGuidelineMiddle Agedmedicine.diseaseConventional PCIEmergency medicinePractice Guidelines as TopicPhysical therapyCardiologyGuideline Adherencemedicine.symptombusinessCardiology and Cardiovascular MedicineHospital UnitsJournal of cardiology
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