Search results for "Informatics"

showing 10 items of 2542 documents

Gene therapy for type 1 diabetes: is it ready for the clinic?

1999

This review, in addition to updating the growing list of type 1 diabetes- relevant gene therapies, offers an outline of short-term objectives that can readily be met to move, at least, adenoviral and adeno-associated viral-based protocols into the clinic, first as a means of facilitating islet allografts as well as platforms with which to introduce immunoregulatory transgenes. A wide array of genes have been tested to restore insulin production, to drive the differentiation of insulin-producing progenitors, and to confer immunosuppression in an antigen- and tissue-restricted manner.

Diabetes; Gene therapy; Immunotherapy; Autoimmunity.medicine.medical_treatmentGenetic enhancementTransgeneImmunologyGenetic VectorsAutoimmunity.BioinformaticsDiabeteAdenoviridaeGene therapyAntigenmedicineAnimalsHumansProgenitor cellgeographyType 1 diabetesgeography.geographical_feature_categorybusiness.industryInsulinGene Transfer TechniquesImmunosuppressionGenetic TherapyIsletmedicine.diseaseDiabetes Mellitus Type 1Immunotherapybusiness
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Attenuated mucopolysaccharidosis: are you missing this debilitating condition?

2011

Diagnosis DifferentialRheumatologybusiness.industryMucopolysaccharidosisMedicineHumansPharmacology (medical)Enzyme Replacement TherapyMucopolysaccharidosesBioinformaticsbusinessmedicine.diseaseRheumatology (Oxford, England)
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Liver fibrosis: Common mechanisms and antifibrotic therapies

2015

Liver fibrosis and in particular cirrhosis have become major endpoints in clinical trials of patients with chronic liver diseases. Here, viral hepatitis, alcoholic and non-alcoholic steatohepatitis have become the major etiologies. We have made great progress in our understanding of the mechanisms and the cell biology of liver fibrosis and have already made the transition from preclinical testing of antifibrotic agents and strategies towards clinical translation. There continues to be an urgent need for specific antifibrotic therapies, despite the advent of highly potent antiviral agents that can even induce regression of advanced fibrosis. This review addresses central mechanisms and cells…

Diagnostic ImagingLiver CirrhosisCirrhosisHepatologybusiness.industryLiver fibrosisGastroenterologyAdaptive Immunitymedicine.diseaseBioinformaticsAcquired immune systemImmunity InnateClinical trialBiomarkerFibrosisImmunologymedicineAnimalsHumansSteatohepatitisViral hepatitisbusinessBiomarkersClinics and Research in Hepatology and Gastroenterology
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Izšķirošās IKT izvēles nākamās digitālās dekādes robežšķirtnē Latvijas skolu izglītības politikas veidošanas sistēmā : promocijas darbs Vadības dokto…

2008

Darbā aplūkotas vairākas izšķirošas izvēles, kuras ir jāveic Latvijas izglītības sistēmai tuvākajos gados sakarā ar pasaules ieiešanu nākamajā digitālajā dekādē, ko pavada ne tikai būtiskas datoru infrastruktūras un lietojumu izmaiņas, bet arī pārmaiņas visā sabiedrībā kopumā, tajā skaitā vadības metodēs, koncepcijās un, līdz ar to arī izglītības sfērā un izglītības vadībā (IV) it īpaši. Darbs veltīts šo pārmaiņu teorētiskajai un praktiskajai bāzei, īpašu uzmanību pievēršot atklātā pirmkoda programmatūras (APP) lietošanas iespējām un aspektiem mācību procesā Latvijas skolās, galveno uzmanību pievēršot operētājsistēmu, biroja programmatūras un interneta risinājumu, tajā skaitā e-mācību, izvē…

Didactics of informaticsInformātikas didaktikaSalīdzinošie pētījumiEducation managementMonte-Karlo metodeICTOpen source softwareIKTIzglītības vadībaAtklātā pirmkoda programmatūra
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ideal: an R/Bioconductor package for interactive differential expression analysis

2020

AbstractBackgroundRNA sequencing (RNA-seq) is an ever increasingly popular tool for transcriptome profiling. A key point to make the best use of the available data is to provide software tools that are easy to use but still provide flexibility and transparency in the adopted methods. Despite the availability of many packages focused on detecting differential expression, a method to streamline this type of bioinformatics analysis in a comprehensive, accessible, and reproducible way is lacking.ResultsWe developed the ideal software package, which serves as a web application for interactive and reproducible RNA-seq analysis, while producing a wealth of visualizations to facilitate data interpr…

Differential expression analysisComputer scienceShinyBioconductorInteractive data analysislcsh:Computer applications to medicine. Medical informaticsReproducible researchBioconductorDifferential expressionCode (cryptography)Transcriptome profilingHumansRNA-SeqTranscriptomicslcsh:QH301-705.5Flexibility (engineering)Ideal (set theory)Base Sequencebusiness.industryData visualizationGene Expression ProfilingRRNAReproducibility of ResultsTransparency (human–computer interaction)Gene Expression Regulationlcsh:Biology (General)Data Interpretation StatisticalWeb applicationlcsh:R858-859.7Software engineeringbusinessSoftwareBMC Bioinformatics
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Artificial increase of uracilemia during fluoropyrimidine treatment can lead to DPD deficiency misinterpretation

2021

Each year in France, >75 000 patients receive fluoropyrimidines, including 5-fluorouracil (5-FU) and its oral prodrug capecitabine (Xeloda), to treat digestive, breast and head and neck cancers.1 Among them, ∼20% will experience severe hematological and digestive toxicities and <2% will have a fatal outcome in the first two cycles. A part of these toxicities may result from a deficiency in dihydropyrimidine dehydrogenase (DPD) which catabolizes the endogenous uracil (U) into dihydrouracil (UH2) as well as 5-FU. In 2018, French Health Authorities [Haute Autorité de Santé (HAS) and Institut National du Cancer, (INCa)] recommended the evaluation of the enzymatic activity of DPD by measuring th…

Dihydropyrimidine Dehydrogenase Deficiencybusiness.industryMEDLINEHematologyBioinformaticsmedicine.diseaseDihydropyrimidine dehydrogenase deficiencyText miningOncologyFluorouracilmedicineHumansFluorouracilbusinessLead (electronics)CapecitabineDihydrouracil Dehydrogenase (NADP)medicine.drugAnnals of Oncology
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A simple algorithm for generating neuronal dendritic trees

1990

Abstract A simple, efficient algorithm is presented for generating the codewords of all neuronal dendritic trees with a given number of terminal nodes. Furthermore, a procedure is developed for deciding if different codewords correspond to topologically equivalent trees.

Discrete mathematicsQuantitative Biology::Neurons and CognitionEfficient algorithmHealth InformaticsDendritesData_CODINGANDINFORMATIONTHEORYData structureModels BiologicalComputer Science ApplicationsTerminal (electronics)Simple (abstract algebra)Computer SimulationTopological conjugacyMathematical ComputingAlgorithmAlgorithmsSoftwareSIMPLE algorithmComputer Science::Information TheoryMathematicsComputer Methods and Programs in Biomedicine
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Automated detection and localization system of myocardial infarction in single-beat ECG using Dual-Q TQWT and wavelet packet tensor decomposition.

2019

Abstract Background and objective It is challenging to conduct real-time identification of myocardial infarction (MI) due to artifact corruption and high dimensionality of multi-lead electrocardiogram (ECG). In the present study, we proposed an automated single-beat MI detection and localization system using dual-Q tunable Q-factor wavelet transformation (Dual-Q TQWT) denoising algorithm. Methods After denoising and segmentation of ECG, a fourth-order wavelet tensor (leads × subbands × samples × beats) was constructed based on the discrete wavelet packet transform (DWPT), to represent the features considering the information of inter-beat, intra-beat, inter-frequency, and inter-lead. To red…

Discrete wavelet transformComputer scienceNoise reductionMyocardial InfarctionWavelet AnalysisHealth InformaticsHilbert–Huang transform030218 nuclear medicine & medical imaging03 medical and health sciencesAutomationElectrocardiography0302 clinical medicineWaveletHumansSegmentationPrincipal Component Analysisbusiness.industryReproducibility of ResultsPattern recognitionSignal Processing Computer-AssistedMultilinear principal component analysisComputer Science ApplicationsCase-Control StudiesArtificial intelligencebusinessClassifier (UML)030217 neurology & neurosurgerySoftwareAlgorithmsComputer methods and programs in biomedicine
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Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?

2020

Summary The diagnosis of Wilson disease is not always easy. For many patients, a combination of tests reflecting disturbed copper metabolism may be needed. Testing for ATP7B variants has become part of the routine diagnostic approach. The methods of genetic testing include analysis of the 21 coding exons and intronic flanking sequences, in which exons with recurrent variants would be prioritised depending on the mutation frequency in the local population. If sequencing the entire ATP7B gene cannot identify 2 variants and the suspicion for Wilson disease is high, after reviewing the clinical data, WES (whole-exome sequencing) or WGS (whole-genome sequencing) could be applied. A workflow base…

DiseaseReviewIndian childhood cirrhosisBioinformaticsDNA sequencingWES whole-exome sequencingPFIC progressive familial intrahepatic cholestasisInternal MedicinemedicineImmunology and AllergyMultiplex ligation-dependent probe amplificationWGS whole-genome sequencingExome sequencingGenetic testingWilson diseaseWhole genome sequencingWhole-genome sequencingHepatologymedicine.diagnostic_testMEDNIK syndromebusiness.industryCopper metabolismGastroenterologyMLPA multiplex ligation-dependent probe amplificationmedicine.diseaseICC Indian childhood cirrhosisNGS next-generation sequencingDMR differentially methylated regionsWhole-exome sequencingNext-generation sequencingbusinessICT idiopathic or primary copper toxicosisCDG congenital disorders of glycosylationGenetic diseasesJHEP Reports
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Drug development for neurodegenerative diseases

2021

Drug DevelopmentDrug developmentbusiness.industryClinical BiochemistryHumansMedicineNeurodegenerative DiseasesbusinessBioinformaticsMolecular BiologyBiochemistryBiological Chemistry
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