Search results for "INFORMATICS"

showing 10 items of 2542 documents

Liver and Statins: A Critical Appraisal of the Evidence.

2019

Adverse drug reactions (ADRs) represent an important cause of morbidity and mortality worldwide. Statins are a class of drugs whose main adverse effects are drug-induced liver injury (DILI) and myopathy. Some of these may be predictable, due to their pharmacokinetic and pharmacodynamic properties, while others, unfortunately, are idiosyncratic. Genetic factors may also influence patient susceptibility to DILI and myopathy in the case of statins. This review will first discuss the role of statins in cardiovascular disease treatment and prevention and the underlying mechanisms of action. Furthermore, to explore the susceptibility of statin-induced adverse events such as myopathy and hepatoto…

Settore MED/09 - Medicina InternaOrganic Anion TransportersGenome-wide association studyBioinformaticsBiochemistryCytochrome P-450 Enzyme SystemHLA AntigensDrug DiscoveryMetSmedicineHumansGenetic Predisposition to DiseaseDrug reactionMyopathyAdverse effectDisease treatmentPharmacologybusiness.industryOrganic ChemistryStatinmedicine.diseaseHepatitis CHCV.Critical appraisalSingle Nucleotide Polymorphisms (SNPs)Cardiovascular DiseasesPharmacodynamicsliver damageMolecular MedicineATP-Binding Cassette TransportersMetabolic syndromemedicine.symptomChemical and Drug Induced Liver InjuryHydroxymethylglutaryl-CoA Reductase Inhibitorsbusinessgenetic susceptibilityCurrent medicinal chemistry
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Characterisation of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicronaemia syndrome (MCS): Establishment of an FC…

2018

Data presented in this article are supplementary material to our article entitled "Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): expert panel recom mendations and proposal of an "FCS Score" (Moulin et al., 2018, in press). The data describe the genotypes of patients with familial chylomicronaemia syndrome (FCS) and multifactorial chylomicro naemia syndrome (MCS), from the validation and replication cohorts.

Settore MED/09 - Medicina InternadiagnosisMEDLINE030209 endocrinology & metabolism030204 cardiovascular system & hematologyBioinformaticslcsh:Computer applications to medicine. Medical informatics03 medical and health sciencesfamilial chylomicronaemia syndrome diagnostic score0302 clinical medicineDiagnòsticDiagnosisMalalties hereditàriesscoreMedicinelcsh:Science (General)Genetics Genomics and Molecular BiologyMultidisciplinarybusiness.industryfamilial chylomicronaemia syndrome (FCS) multifactorial chylomicronaemia syndrome (MCS) diagnosis scorefamilial chylomicronaemia syndrome (FCS)Rare diseaseslcsh:R858-859.7lipids (amino acids peptides and proteins)Malalties rareschylomicronaemia syndrome ; multifactorial chylomicronaemia syndromebusinessmultifactorial chylomicronaemia syndrome (MCS)Genetic diseaseslcsh:Q1-390Data in Brief
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Metabolic bone disease and osteoporosis in children

2016

To understand the basics of pediatric bone metabolism and mechanisms underlying osteoporosis.

Settore MED/38 - Pediatria Generale E SpecialisticaOsteogenesis imperfectabusiness.industryMedicine (all)OsteoporosisTurner syndromemedicinemedicine.diseasebusinessBioinformaticsMetabolic bone diseaseBone remodeling
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miRNA Signature and Dicer Requirement during Human Endometrial Stromal Decidualization In Vitro

2012

Decidualization is a morphological and biochemical transformation of endometrial stromal fibroblast into differentiated decidual cells, which is critical for embryo implantation and pregnancy establishment. The complex regulatory networks have been elucidated at both the transcriptome and the proteome levels, however very little is known about the post-transcriptional regulation of this process. miRNAs regulate multiple physiological pathways and their de-regulation is associated with human disorders including gynaecological conditions such as endometriosis and preeclampsia. In this study we profile the miRNAs expression throughout human endometrial stromal (hESCs) decidualization and analy…

Sexual ReproductionRibonuclease IIISmall interfering RNAAnatomy and PhysiologyCellular differentiationGene ExpressionBioinformaticsCell morphologyTranscriptomeEndocrinologyMolecular Cell BiologyMultidisciplinarybiologyStem CellsQDeciduaRObstetrics and GynecologyCell DifferentiationForkhead Transcription FactorsCell biologyFemale Genital Diseasesmedicine.anatomical_structureMedicineFemaleResearch ArticleAdultScienceMolecular GeneticsYoung AdultmicroRNAGeneticsDeciduamedicineReproductive EndocrinologyHumansGene RegulationBiologyEmbryonic Stem CellsHomeodomain ProteinsGene Expression ProfilingReproductive SystemComputational BiologyDecidualizationFibroblastsFemale SubfertilityInsulin-Like Growth Factor Binding Protein 1MicroRNAsHomeobox A10 ProteinsGene Expression Regulationbiology.proteinStromal CellsDevelopmental BiologyDicerPLoS ONE
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Automatic differentiation of melanoma from dysplastic nevi.

2015

International audience; Malignant melanoma causes the majority of deaths related to skin cancer. Nevertheless, it is the most treatable one, depending on its early diagnosis. The early prognosis is a challenging task for both clinicians and dermatologist, due to the characteristic similarities of melanoma with other skin lesions such as dysplastic nevi. In the past decades, several computerized lesion analysis algorithms have been proposed by the research community for detection of melanoma. These algorithms mostly focus on differentiating melanoma from benign lesions and few have considered the case of melanoma against dysplastic nevi. In this paper, we consider the most challenging task a…

Shape featuresSkin Neoplasms[SDV.IB.IMA]Life Sciences [q-bio]/Bioengineering/ImagingDysplastic02 engineering and technology[ INFO.INFO-CV ] Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV]030218 nuclear medicine & medical imagingColourPattern Recognition Automated0302 clinical medicine0202 electrical engineering electronic engineering information engineeringMelanoma[ SDV.IB.IMA ] Life Sciences [q-bio]/Bioengineering/ImagingRadiological and Ultrasound Technology[ INFO.INFO-IM ] Computer Science [cs]/Medical ImagingMelanomaClassificationComputer Graphics and Computer-Aided DesignDermoscopy imaging3. Good healthRandom forest020201 artificial intelligence & image processingComputer Vision and Pattern RecognitionAlgorithmsmedicine.medical_specialtyAutomatic differentiationFeature extractionHealth InformaticsDermoscopySensitivity and SpecificityDiagnosis Differential03 medical and health sciencesLesion analysisMachine learningImage Interpretation Computer-Assistedmedicine[INFO.INFO-IM]Computer Science [cs]/Medical ImagingHumansRadiology Nuclear Medicine and imagingTextureneoplasmsbusiness.industry[INFO.INFO-CV]Computer Science [cs]/Computer Vision and Pattern Recognition [cs.CV]medicine.diseaseDermatologySupport vector machineBag-of-words modelSkin cancerbusinessDysplastic Nevus SyndromeComputerized medical imaging and graphics : the official journal of the Computerized Medical Imaging Society
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Heterogeneous shear elasticity of glasses: the origin of the boson peak

2013

The local elasticity of glasses is known to be inhomogeneous on a microscopic scale compared to that of crystalline materials. Their vibrational spectrum strongly deviates from that expected from Debye's elasticity theory: The density of states deviates from Debye's law, the sound velocity shows a negative dispersion in the boson-peak frequency regime and there is a strong increase of the sound attenuation near the boson-peak frequency. By comparing a mean-field theory of shear-elastic heterogeneity with a large-scale simulation of a soft-sphere glass we demonstrate that the observed anomalies in glasses are caused by elastic heterogeneity. By observing that the macroscopic bulk modulus is …

Shear elasticityPhysicsBulk modulusMultidisciplinaryCondensed matter physicsElasticity (physics)BioinformaticsArticleMicroscopic scalesymbols.namesakeShear (geology)Density of statessymbolsAcoustic attenuationDebyeScientific Reports
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Isolation of a novel LPS-induced component of the ML superfamily in Ciona intestinalis

2015

ML superfamily represents a group of proteins playing important roles in lipid metabolism and innate immune response. In this study, we report the identification of the first component of the ML superfamily in the invertebrate Ciona intestinalis by means of a subtractive hybridization strategy. Sequence homology and phylogenetic analysis showed that this protein forms a specific clade with vertebrate components of the Niemann-Pick type C2 protein and, for this reason, it has been named Ci-NPC2. The putative Ci-NPC2 is a 150 amino acids long protein with a short signal peptide, seven cysteine residues, three putative lipid binding site and a three-dimensional model showing a characteristic b…

Signal peptideLipopolysaccharidesHemocytesImmunologyMolecular Sequence DataSettore BIO/05 - ZoologiaSequence alignmentBiologyBioinformaticshemic and lymphatic diseasesGene expressionAnimalsCiona intestinalisAmino Acid SequencePeptide sequenceGenePhylogenychemistry.chemical_classificationBase SequenceSequence Homology Amino Acidnutritional and metabolic diseasesbiology.organism_classificationLipid MetabolismImmunity InnateAmino acidCiona intestinalisBiochemistrychemistryLPS NPC2 Ciona intestinalisSuppression subtractive hybridizationCarrier ProteinsSequence AlignmentDevelopmental Biology
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Transputer-based parallel system for acquisition and on-line analysis of single-fiber electromyographic signals.

1992

Abstract We describe a transputer-based system suitable for accurate measurements of single-fiber electromyographic jitter. It consists of a conventional electromyograph, a home-made interface and a commercially available transputer-based board installed within a PC/AT compatible. Taking advantage of the concurrent operation of two transputer modules, the system features simultaneous data acquisition and statistical signal processing: while data are acquired and analyzed, a real-time visualization of the signal latency and its variability is provided. In the present configuration, the system can acquire and analyze up to 40,000 consecutive action potentials, which can be grouped into up to …

Signal processingComputer scienceElectromyographyTransputerInterface (computing)Real-time computingHealth InformaticsSignal Processing Computer-AssistedSignalComputer Science ApplicationsData acquisitionMicrocomputersEvaluation Studies as TopicHumansDiagnosis Computer-AssistedSmoothingSoftwareStatistical signal processingJitterComputer methods and programs in biomedicine
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1,8-Bis[3-(triethoxysilyl)propyl]-1,8-diazoniatricyclo[9.3.1.14,8]hexadecane diiodide

2009

The organic molecule of title compound, C30H66N4O6Si22+·2I−, is located around a centre of symmetry. The structure exhibits disorder of the triethoxy groups with the ratios 0.78 (1)/0.22 (1), 0.67 (1)/0.33 (1) and 0.58 (1)/0.42 (1).

Silylation[CHIM.ORGA]Chemical Sciences/Organic chemistryGeneral ChemistryDecanecyclam010402 general chemistry010403 inorganic & nuclear chemistryCondensed Matter PhysicsBioinformaticsHEXAX-ray crystal structure01 natural sciencesMedicinal chemistry3. Good health0104 chemical scienceslcsh:Chemistrychemistry.chemical_compoundchemistrylcsh:QD1-999[ CHIM.ORGA ] Chemical Sciences/Organic chemistryCyclamGeneral Materials ScienceDiazobisaminalComputingMilieux_MISCELLANEOUS
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Methods of spatial cluster detection in rare childhood cancers: Benchmarking data and results from a simulation study on nephroblastoma

2021

Abstract The potential existence of spatial clusters in childhood cancer incidence is a debated topic. Identification of rare disease clusters in general may help to better understand disease etiology and develop preventive strategies against such entities. The incidence of newly diagnosed childhood malignancies under 15 years of age is 140/1,000,000. In this context, the subgroup of nephroblastoma represents an extremely rare entity with an annual incidence of 7/1,000,000. We evaluated widely used statistical approaches for spatial cluster detection in childhood cancer (Ref. [22] Schundeln et al., 2021, Cancer Epidemiology). For the simulation study, random high risk clusters of 1 to 50 ad…

Simulation studyComputer scienceScan statisticBayesian probabilityMedizinContext (language use)lcsh:Computer applications to medicine. Medical informaticsBayesian03 medical and health sciences0302 clinical medicineRandom distributionStatisticsCluster analysislcsh:Science (General)NephroblastomaData Article030304 developmental biology0303 health sciencesMultidisciplinaryBenchmarkingIdentification (information)Besag-NewellLaplace's methodSpatial clusterlcsh:R858-859.7Besag York MolliéRaw dataChildhood cancerSpatial scan statistic030217 neurology & neurosurgerylcsh:Q1-390Data in Brief
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