Search results for " DNA"

showing 10 items of 2475 documents

Communal data work: Data sharing and re-use in clinical genetics

2019

In this article, we examine work with communal data in the context of clinical genetic testing. Drawing from prior research on digital research infrastructures and from the analysis of our empirical data on genetic testing, we describe how data generated in laboratories distributed all over the world are shared and re-used. Our research findings point to six different human-driven activities related to expanding, disambiguating, sanitizing and assessing the relevance, validity and combinability of data. We contribute to research within Health Informatics with a framework that foregrounds human-driven activities for data interoperability.

medicine.medical_specialtyKnowledge managementDatabases FactualHealth InformaticsContext (language use)02 engineering and technology050905 science studiesHealth Information Management020204 information systemsGenetics0202 electrical engineering electronic engineering information engineeringClinical geneticmedicineHumansGenetic TestingSociologyCooperative BehaviorInformation Disseminationbusiness.industry05 social sciencesSequence Analysis DNAPeer reviewData sharingWork (electrical)VDP::Samfunnsvitenskap: 200Medical genetics0509 other social sciencesbusinessSoftwareHealth Informatics Journal
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Need to evaluate the performance of real-time PCR assays for the quantitation of cytomegalovirus DNA load in lower respiratory tract specimens

2013

There is an increasing appreciation for the potential clinical value of the quantitation of cytomegalovirus (CMV) DNA in the lower respiratory tract in critically ill patients lacking canonical immunosuppression, in view of the possible pathogenic role of CMV in these patients [1]. No data have been published on the analytical performance of real-time PCR assays for this purpose. We present our data on the performance of the COBAS® AmpliPrep/COBAS® TaqMan CMV PCR Assay (Roche Diagnostics, Mannheim, Germany) for the quantitation of CMV DNA in tracheal aspirates (TA). This CMV PCR assay has been approved recently by the US Food and Drug Administration for use with plasma specimens [2]. We cho…

medicine.medical_specialtyLettermedicine.medical_treatmentCongenital cytomegalovirus infectionCytomegalovirusCritical Care and Intensive Care MedicineReal-Time Polymerase Chain ReactionGastroenterologySensitivity and SpecificityCytomegalovirus DNAInternal medicinemedicineTaqManHumansRespiratory Tract InfectionsMechanical ventilationRespiratory tract infectionsbusiness.industryViral Loadmedicine.diseaseVirologyRespiration ArtificialIntensive Care Unitsmedicine.anatomical_structureReal-time polymerase chain reactionCytomegalovirus InfectionsDNA ViralbusinessViral loadRespiratory tract
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Translocation (10;11;22)(p14;q24;q12) Characterized by Fluorescence in Situ Hybridization in a Case of Ewing's Tumor

2001

It is well recognized that the identification by classic cytogenetics of t(11;22)(q24;q12) is a useful aid in the accurate diagnosis of Ewing's sarcoma and related tumors. This translocation induces the EWS/FLI-1 fusion transcript, which can be detected by reverse transcription-polymerase chain reaction. Recent studies have also used fluorescence in situ hybridization (FISH) to demonstrate the translocation. The authors coupled classic cytogenetics and FISH on tumor cells from the original specimen, the local recurrence, and the pulmonary metastasis as well as from the xenografted tumors in a case of extraosseous Ewing's sarcoma. FISH analysis not only confirmed the cytogenetic results but …

medicine.medical_specialtyLung NeoplasmsOncogene Proteins FusionChromosomes Human Pair 22Bone NeoplasmsChromosomal translocationSarcoma EwingBiologyTranslocation GeneticPathology and Forensic MedicineImmunoenzyme TechniquesFatal OutcomemedicineHumansChildMolecular BiologyIn Situ Hybridization FluorescenceLegmedicine.diagnostic_testChromosomes Human Pair 10Proto-Oncogene Protein c-fli-1Reverse Transcriptase Polymerase Chain ReactionChromosomes Human Pair 11CytogeneticsChromosomeEwing's tumorDNA NeoplasmSequence Analysis DNACell Biologymedicine.diseaseCombined Modality TherapyFusion transcriptKaryotypingCancer researchFemaleInterphaseSarcomaRNA-Binding Protein EWSTranscription FactorsFluorescence in situ hybridizationDiagnostic Molecular Pathology
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Mitochondrial dysfunction in cholestatic liver diseases

2011

et al.

medicine.medical_specialtyMitochondrial DNABiliary cirrhosisMitochondrial HepatopathyApoptosisReviewBiologyMitochondrionmedicine.disease_causeGeneral Biochemistry Genetics and Molecular BiologyLiver diseaseCholestasisInternal medicinemedicineHumansBiología y BiomedicinaCholestasisGeneral Immunology and MicrobiologyLiver Diseasesmedicine.diseaseBile acidsCell biologyMitochondriaEndocrinologyMitochondrial biogenesisOxidative stressMitochondrial functionMitochondrial dysfunctionOxidative stressFrontiers in Bioscience (Elite edition) 4: 2233-2252 (2012)
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Oxidative Stress and DNA Damage in Human Gastric Carcinoma: 8-Oxo-7'8-dihydro-2'-deoxyguanosine (8-oxo-dG) as a Possible Tumor Marker

2013

We characterized the oxidative stress (OS) status by the levels of reduced/oxidized glutathione (GSH/GSSG), malondialdehyde (MDA) and the mutagenic base 8-oxo-7′8-dihydro-2′-deoxyguanosine (8-oxo-dG) in human gastric carcinoma (HGC) samples and compared the results with normal tissue from the same patients. We also analyzed 8-oxo-dG in peripheral mononuclear cells (PMNC) and urine from healthy control subjects and in affected patients in the basal state and one, three, six, nine and twelve months after tumor resection. The levels of DNA repair enzyme mRNA expression (hOGG1, RAD51, MUYTH and MTH1) were determined in tumor specimens and compared with normal mucosa. Tumor specimens exhibited i…

medicine.medical_specialtyPathologyDNA damageDNA repair8-oxo-dGBiologymedicine.disease_causePeripheral blood mononuclear cellArticleCatalysisInorganic Chemistrychemistry.chemical_compoundInternal medicinemedicine8-oxo-dG; DNA repair enzymes; gastric cancer; oxidative stress; tumor markeroxidative stressDeoxyguanosinePhysical and Theoretical ChemistryMolecular BiologySpectroscopyTumor markergastric cancerOrganic ChemistryGeneral MedicineGlutathioneMalondialdehydeComputer Science ApplicationsEndocrinologyDNA repair enzymeschemistrytumor markerOxidative stressInternational Journal of Molecular Sciences; Volume 14; Issue 2; Pages: 3467-3486
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Study of Cellular DIMA Content by Flow Cytometry in Primary Bladder Carcinomas

1992

A prospective study of cellular DNA content by flow cytometry was performed on a nonconsecutive series of 67 patients undergoing diagnostic and/or therapeutic transurethral resection for primary urothelial bladder carcinoma. DNA-aneuploidy was present in 82% of the cases (55/67), while multiclonality was found in 45% of the DNA-aneuploid cases (25/55). DNA-ploidy was much more strictly correlated with histological grading (p less than 0.005) than with papillary or non-papillary growth pattern (p less than 0.05) or T staging (p less than 0.05). Of 26 patients with a minimum follow-up of 24 months, 100% (6/6) of cases with DNA-diploid neoplasias showed no signs of disease relapse, versus 10% …

medicine.medical_specialtyPathologyUrinary bladdermedicine.diagnostic_testbusiness.industryUrologyCytogeneticsmedicine.diseaseFlow cytometrymedicine.anatomical_structureCellular dnaMonoclonalmedicineCarcinomaProspective cohort studybusinessGrading (tumors)European Urology
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Is there a role for recombinant tumor necrosis factor alpha in the intravesical treatment of superficial bladder tumors?--a phase II study

1995

Clinical use of recombinant tumor necrosis factor-alpha is strongly limited by its severe toxicity, mainly cardiovascular, when systemically administered. Recent studies suggest that topical (intrapleural, intraperitoneal, intratumoral) administration is free of significant toxicity. Human recombinant tumor necrosis factor-alpha was administered intravesically, at a dose of 500 mg dissolved in 30 ml of phosphate buffer (pH7.6-7.8) plus 0.25% human albumin, weekly for two months to 18 patients with papillary transitional cell carcinoma of the bladder. Of the 15 evaluable patients, four (26%) achieved a complete response. Systemic and local tolerability were excellent. Int J Urol 1995;2:100-1…

medicine.medical_specialtyPathologyUrologyUrologyPhases of clinical researchlaw.inventionlawRecurrencemedicineHumansPapillary transitional cell carcinomaCarcinoma Transitional Cellbusiness.industryTumor Necrosis Factor-alphaRecombinant ProteinRecombinant ProteinsRecombinant Tumor Necrosis Factor-AlphaIntravesical treatmentAdministration IntravesicalTolerabilityUrinary Bladder NeoplasmsToxicityRecombinant DNATumor necrosis factor alphabusinessHuman
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Cytogenetics of the land snails Cantareus aspersus and C. mazzullii (Mollusca: Gastropoda: Pulmonata).

2004

A cytogenetic study was carried out on the chromosomes and nuclear DNA contents of the land snails Cantareus aspersus and C. mazzullii (Gastropoda: Pulmonata). Chromosomes were studied using Giemsa staining, banding methods and fluorescent in situ hybridization (FISH) with three repetitive DNA probes [18S rDNA, (GATA)n and (TTAGGG)n]. Results were very similar in the two species both showing (1) 54 bi-armed chromosomes [submetacentrics (SM) C metacentrics (M) C subtelocentrics (ST)]; (2) 10 terminal NORs after sequential application of rDNA FISH and silver staining; (3) uniform DNA fluorescence with CMA3 and DAPI staining and (4) genomic composition considerably enriched both in highly- and…

medicine.medical_specialtySnailsGeneral Physics and AstronomyPulmonataDNA RibosomalGiemsa stainSilver stainchemistry.chemical_compoundCytogeneticsSpecies SpecificityStructural BiologyGastropodamedicineAnimalsGeneral Materials ScienceIn Situ Hybridization FluorescenceRepetitive Sequences Nucleic AcidbiologyBase SequenceStaining and LabelingCytogeneticsCell BiologyDNATelomerebiology.organism_classificationMolecular biologyStainingNuclear DNAChromosome BandingchemistryKaryotypingDNAMicron (Oxford, England : 1993)
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Biochemical Aspects of Chick Embryo Retina Development: The Effects of Glucocorticoids

1989

In chick embryo retina during development, DNA synthesis and the activities of DNA polymerase, thymidine kinase, thymidylate synthetase, and ornithine decarboxylase (ODC) declined in parallel from day 7 to 12. The administration in ovo of hydrocortisone reduced significantly, particularly at 8-10 days of incubation, both DNA synthesis and the four enzyme activities tested. The effect was dose dependent, reaching the maximum with 50-100 nmol of hydrocortisone, 8-16 h after treatment. The highest inhibition was found for ODC activity (70%), followed by thymidine kinase activity (62%) and DNA synthesis (45%), whereas activities of DNA polymerase and thymidylate synthetase were reduced only by …

medicine.medical_specialtyThymidine kinase activityTime FactorsHydrocortisoneDNA polymeraseChick EmbryoDNA-Directed DNA PolymeraseOrnithine DecarboxylaseIn ovoThymidine KinaseBiochemistryThymidylate synthaseDexamethasoneRetinaOrnithine decarboxylaseCellular and Molecular NeuroscienceInternal medicineBiochemical aspectsmedicineAnimalsGlucocorticoidsDose-Response Relationship DrugbiologyDNA synthesisProteinsEmbryoDNAOrgan SizeThymidylate SynthaseKineticsEndocrinologyRNA RibosomalThymidine kinasebiology.proteinJournal of Neurochemistry
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Re: Clinical implementation of routine screening for fetal trisomies in the UK NHS: cell-free DNA test contingent on results from first-trimester com…

2016

medicine.medical_specialtyTrisomyPrenatal diagnosis030218 nuclear medicine & medical imaging03 medical and health sciences0302 clinical medicinePregnancyPrenatal DiagnosismedicineHumansRadiology Nuclear Medicine and imagingGynecologyFetusPregnancy030219 obstetrics & reproductive medicineRoutine screeningRadiological and Ultrasound TechnologyMaternal Serum Screening TestsObstetricsbusiness.industryObstetrics and GynecologyDNAGeneral Medicinemedicine.diseaseTest (assessment)Pregnancy Trimester FirstReproductive MedicineCell-free fetal DNACombined testFemaleDown SyndromeChromosomes Human Pair 18businessMaternal Serum Screening TestsUltrasound in Obstetrics & Gynecology
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