Search results for "ExAC"

showing 10 items of 1440 documents

P285 The ‘real-life’ copd patient in the age of laba/lamas: an expansion of the daccord study

2016

Introduction The prospective, non-interventional DACCORD study collects data from a representative cohort of COPD out-patients across Germany who either initiated or changed COPD maintenance medication prior to entry. Initially, DACCORD consisted of two treatment groups (Glycopyrronium-based therapy vs. any other COPD maintenance medication with the exception of Glycopyrronium). Following the approval of LABA/LAMA fixed-dose combinations (FDC) in 2013, DACCORD was extended to follow an additional cohort of patients receiving any LABA/LAMA FDC over a period of 2 years. Methods 5223 patients with complete baseline data (3815 LAMA/LABA FDC vs. 1408 standard treatment group) were analysed here.…

0301 basic medicinePulmonary and Respiratory MedicinePediatricsmedicine.medical_specialtyeducation.field_of_studyCOPDExacerbationbiologybusiness.industryStandard treatmentPopulationLamamedicine.diseasebiology.organism_classificationObstructive lung disease03 medical and health sciences030104 developmental biology0302 clinical medicine030228 respiratory systemConcomitantCohortmedicineeducationbusinessThorax
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Bacterial-viral load and the immune response in stable and exacerbated COPD: significance and therapeutic prospects.

2016

Silvestro Ennio D’Anna,1 Bruno Balbi,2 Francesco Cappello,3,4 Mauro Carone,2 Antonino Di Stefano21Department of Rehabilitation, Cardiorespiratory Unit, Fondazione Istituto G. Giglio di Cefalù, 2Pneumology Unit and Laboratory of Cytoimmunopathology of Heart and Lung, Fondazione Salvatore Maugeri, IRCCS, Veruno (NO) and Cassano delle Murge (BA), 3Human Anatomy Section, Department of Experimental Biomedicine and Clinical Neuroscience, University of Palermo, Palermo, Italy; 4Euro-Mediterranean Institute of Science and Technology, Palermo, ItalyAbstract: Chronic obstructive pulmonary disease (COPD) is characterized by persistent airflow limitation and an abnormal inflammatory respon…

0301 basic medicinePulmonary and Respiratory MedicinePulmonary diseasemicrobiomeReview03 medical and health sciencesPulmonary Disease Chronic Obstructive0302 clinical medicineImmune systemexacerbationsmedicineHumansMicrobiomeRespiratory systemlcsh:RC705-779COPDImmunity CellularLungseverity of COPDbusiness.industryBiomarkers; COPD phenotype; Exacerbations; Microbiome; Severity of COPD; Pulmonary and Respiratory Medicine; Public Health Environmental and Occupational Health; Health PolicyHealth PolicyPublic Health Environmental and Occupational HealthbiomarkersExacerbationlcsh:Diseases of the respiratory systemBiomarkerGeneral MedicineViral Loadmedicine.diseaseBacterial Loadrespiratory tract diseases030104 developmental biologymedicine.anatomical_structure030228 respiratory systemImmunologyDisease ProgressionCOPD phenotypebusinessViral loadRespiratory tractInternational journal of chronic obstructive pulmonary disease
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Accelerating metagenomic read classification on CUDA-enabled GPUs.

2016

Metagenomic sequencing studies are becoming increasingly popular with prominent examples including the sequencing of human microbiomes and diverse environments. A fundamental computational problem in this context is read classification; i.e. the assignment of each read to a taxonomic label. Due to the large number of reads produced by modern high-throughput sequencing technologies and the rapidly increasing number of available reference genomes software tools for fast and accurate metagenomic read classification are urgently needed. We present cuCLARK, a read-level classifier for CUDA-enabled GPUs, based on the fast and accurate classification of metagenomic sequences using reduced k-mers (…

0301 basic medicineTheoretical computer scienceWorkstationGPUsComputer scienceContext (language use)CUDAParallel computingBiochemistryGenomelaw.invention03 medical and health sciencesCUDAUser-Computer Interface0302 clinical medicineStructural BiologylawTaxonomic assignmentHumansMicrobiomeMolecular BiologyInternetXeonApplied MathematicsHigh-Throughput Nucleotide SequencingSequence Analysis DNAExact k-mer matchingComputer Science Applications030104 developmental biologyTitan (supercomputer)Metagenomics030220 oncology & carcinogenesisMetagenomicsDNA microarraySoftwareBMC bioinformatics
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Real-World Patterns of Pharmacotherapeutic Management of Asthma Patients With Exacerbations in the Spanish National Health System

2020

Background Little is known about the real1world characteristics of asthma patients with exacerbations or their pharmacotherapeutic management. We described the sociodemographic and clinical characteristics, and the patterns of short and long-term management of asthma attacks, in a population-wide cohort of exacerbators in the region of Valencia, Spain. Methods We selected asthma patients with at least one exacerbation in 2015 and 2016, we classified them according to their patterns of exacerbations in the 4 years previous to the index exacerbation and their therapeutic step at baseline based on medication received in the previous year. We described the short and long-term pharmacological ma…

0301 basic medicinemedicine.medical_specialtyExacerbationPopulationDiseasereal-world cohortpharmacotherapy03 medical and health sciencesexacerbation0302 clinical medicinePharmacotherapyMaintenance therapyInternal medicinemedicinePharmacology (medical)Medical prescriptioneducationOriginal ResearchAsthmaPharmacologyeducation.field_of_studybusiness.industrylcsh:RM1-950asthmamedicine.diseasepopulation-basedlcsh:Therapeutics. Pharmacologystepwise approach030104 developmental biology030220 oncology & carcinogenesisCohortbusinessFrontiers in Pharmacology
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WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Datab…

2016

International audience; High-throughput next-generation sequencing such as whole-exome and whole-genome sequencing are being rapidly integrated into clinical practice. The use of these techniques leads to the identification of secondary variants for which decisions about the reporting or not to the patient need to be made. The American College of Medical Genetics and Genomics recently published recommendations for the reporting of these variants in clinical practice for 56 "actionable" genes. Among these, seven are involved in Marfan Syndrome And Related Disorders (MSARD) resulting from mutations of the FBN1, TGFBR1 and 2, ACTA2, SMAD3, MYH11 and MYLK genes. Here, we show that mutations col…

0301 basic medicinemedicine.medical_specialtyKnowledge BasesGenomicsmarfan-syndrome[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics030105 genetics & heredityBiologycomputer.software_genreGenomeExAC03 medical and health sciencesAnnotationincidental findingsGeneticsmedicineHumanspathogenicityGenetic Predisposition to Diseasetgfbr2ExomegenomeESPGenetics (clinical)Exome sequencing[INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM]variantsDatabasethoracic aortic-aneurysmsGenome HumanHigh-Throughput Nucleotide SequencingMYLKGenomicspredictionmutations3. Good healthMarfan syndrome030104 developmental biologydissection[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsCardiovascular DiseasesMutationMedical geneticsIdentification (biology)LSDB[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]computerexome
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The genomic sequence of Exiguobacterium chiriqhucha str. N139 reveals a species that thrives in cold waters and extreme environmental conditions

2017

We report the genome sequence of Exiguobacterium chiriqhucha str. N139, isolated from a high-altitude Andean lake. Comparative genomic analyses of the Exiguobacterium genomes available suggest that our strain belongs to the same species as the previously reported E. pavilionensis str. RW-2 and Exiguobacterium str. GIC 31. We describe this species and propose the chiriqhucha name to group them. ‘Chiri qhucha’ in Quechua means ‘cold lake’, which is a common origin of these three cosmopolitan Exiguobacteria. The 2,952,588-bp E. chiriqhucha str. N139 genome contains one chromosome and three megaplasmids. The genome analysis of the Andean strain suggests the presence of enzymes that confer E. ch…

0301 basic medicinemegaplasmidBioinformaticsOtras Ciencias Biológicas[SDV]Life Sciences [q-bio]Microbial metabolismBiodiversitylcsh:MedicineGenomicsTryptophan biosynthesisMicrobiology High altitude Andean lakesBiologySubjects BiochemistryGenomeBiochemistryMicrobiologyGeneral Biochemistry Genetics and Molecular BiologyCiencias Biológicas//purl.org/becyt/ford/1 [https]03 medical and health sciencesExtremophilesArsenic resistanceExiguobacteriumBotanyExtremophile//purl.org/becyt/ford/1.6 [https]genome2. Zero hungerWhole genome sequencingGeneticsGeneral Neurosciencelcsh:RGeneral MedicineBiodiversityGenomicsMetals or metalloidsExiguobacteriumbiology.organism_classificationHigh altitude Andean lakes030104 developmental biologyMicrobial population biology13. Climate actionUV resistanceBacterial metabolismGeneral Agricultural and Biological SciencesCIENCIAS NATURALES Y EXACTAS
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Bio-Sintering/Bio-Fusion of Silica in Sponge Spicules

2012

The synthesis of siliceous spicules in both demosponges and hexactinellids is enzymatically driven via silicatein. This enzyme exists both intra-spicularly and in the extra-spicular space. It catalyzes the formation of bio-silica constituting the silica lamellae that are formed during the appositional (layer-by-layer) growth of the spicules. The extent of (bio-silica forming) activity of silicatein from the demosponge Suberites domuncula measured in vitro reflects the amount of bio-silica required for the formation of spicules in vivo. It is shown that during growth and maturation of the spicules in demosponges a bio-fusion process occurs that results in an intra-spicular sintering of the s…

0303 health sciencesFusionMaterials sciencePolycondensation reactionbiologyHexactinellid030302 biochemistry & molecular biologySinteringEuplectellaCondensed Matter Physicsbiology.organism_classificationSuberites domuncula03 medical and health sciencesDemospongeSponge spiculeBiophysicsGeneral Materials Science030304 developmental biologyAdvanced Engineering Materials
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Flashing light in sponges through their siliceous fiber network: A new strategy of “neuronal transmission” in animals

2012

Sponges (phylum Porifera) represent a successful animal taxon that evolved prior to the Ediacaran-Cambrian boundary (542 million years ago). They have developed an almost complete array of cell- and tissue-based interaction systems necessary for the establishment of a functional, multicellular body. However, a network of neurons, one cell/tissue-communication system is missing in sponges. This fact is puzzling and enigmatic, because these animals possess receptors known to be involved in the nervous system in evolutionary younger animal phyla. As an example, the metabotropic glutamate/GABA-like receptor has been identified and cloned by us. Recently, we have identified a novel light transmi…

0303 health sciencesMultidisciplinarybiologyHexactinellid030302 biochemistry & molecular biologyAnatomybiology.organism_classificationCell biologySuberites domuncula03 medical and health sciencesSpongeDemospongeSponge spiculeCryptochromeLuciferaseSignal transductionGeneral030304 developmental biologyChinese Science Bulletin
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Exact solution of the soft-clustered vehicle-routing problem

2020

Abstract The soft-clustered vehicle-routing problem (SoftCluVRP) extends the classical capacitated vehicle-routing problem by one additional constraint: The customers are partitioned into clusters and feasible routes must respect the soft-cluster constraint, that is, all customers of the same cluster must be served by the same vehicle. In this article, we design and analyze different branch-and-price algorithms for the exact solution of the SoftCluVRP. The algorithms differ in the way the column-generation subproblem, a variant of the shortest-path problem with resource constraints (SPPRC), is solved. The standard approach for SPPRCs is based on dynamic-programming labeling algorithms. We s…

050210 logistics & transportationMathematical optimization021103 operations researchInformation Systems and ManagementGeneral Computer ScienceComputer science05 social sciences0211 other engineering and technologies02 engineering and technologyManagement Science and Operations ResearchIndustrial and Manufacturing EngineeringConstraint (information theory)Exact solutions in general relativityModeling and Simulation0502 economics and businessVehicle routing problemCluster (physics)State spaceRelaxation (approximation)Integer programmingEuropean Journal of Operational Research
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CCDC 816417: Experimental Crystal Structure Determination

2017

Related Article: Dieter Schollmeyer, Heiner Detert|2017|Tetrahedron Lett.|58|843|doi:10.1016/j.tetlet.2017.01.040

112455-hexachloro-3-(dichloromethylene)penta-14-dieneSpace GroupCrystallographyCrystal SystemCrystal StructureCell ParametersExperimental 3D Coordinates
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