Search results for "Ic testing"

showing 10 items of 283 documents

Pooling of Nasopharyngeal Swab Specimens for SARS-CoV-2 detection by RT-PCR

2020

ABSTRACTSystematic testing of large population groups by RT-PCR is mandatory to Covid-19 case identification and contact tracing in order to minimize the likelyhood of resurgence in contagion. Sample pooling for RT-PCR has been effectively used to detect community transmission of SARS CoV-2. Nevertheless, this procedure may decrease the sensitivity of RT-PCR assays due to specimen dilution. We evaluated the efficacy of this strategy for diagnosis of Covid-19 using a sensitive commercially-available RT-PCR targeting SARS CoV-2 E and RdRp genes in a single reaction. A total of 20 mini-pools containing either 5 (n=10) or 10 (n=10) nasopharyngeal exudates collected in universal transport medium…

Real-time polymerase chain reactionCoronavirus disease 2019 (COVID-19)Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)PoolingLarge populationBiologyVirologyContact tracingCase identificationSystematic testing
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Commissioning and periodic tests of the Esteya® electronic brachytherapy system

2015

A new electronic brachytherapy unit from Elekta, called Esteya(®), has recently been introduced to the market. As a part of the standards in radiation oncology, an acceptance testing and commissioning must be performed prior to treatment of the first patient. In addition, a quality assurance program should be implemented. A complete commissioning and periodic testing of the Esteya(®) device using the American Association of Physicists in Medicine (AAPM), Groupe Europeen de Curietherapie and the European Society for Radiotherapy & Oncology (GEC-ESTRO) guidelines for linacs and brachytherapy units as well as our personal experience is described in this paper. In addition to the methodology, r…

Review Papermedicine.medical_specialtyTraceabilityPeriodic testingelectronic brachytherapybusiness.industryProject commissioningmedicine.medical_treatmentBrachytherapyquality assuranceTest (assessment)EsteyaOncologyAcceptance testingRadiation oncologyMedicinecommissioningRadiology Nuclear Medicine and imagingMedical physicsbusinessQuality assuranceJournal of Contemporary Brachytherapy
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Familial risk-colorectal cancer: ESMO Clinical Practice Guidelines.

2013

J. Balmana1, F. Balaguer2, A. Cervantes3 & D. Arnold4, on behalf of the ESMO Guidelines Working Group* Department of Medical Oncology, Hospital Vall d’Hebron, Vall d’Hebron Institute of Oncology (VHIO), Universitat Autonoma de Barcelona, Barcelona; Department of Gastroenterology, Hospital Clinic, CIBERehd, IDIBAPS, University of Barcelona, Barcelona; Department of Hematology and Medical Oncology, INCLIVA, University of Valencia, Valencia, Spain; Department of Medical Oncology, Tumor Biology Clinic, Albert Ludwigs University, Freiburg, Germany;

Riskmedicine.medical_specialtyColorectal cancerChemopreventionDNA Mismatch RepairDNA GlycosylasesNeoplastic Syndromes Hereditaryhealth services administrationMedicineHumansGenetic Predisposition to DiseaseGenetic TestingMultiple PolypsSigmoidoscopyEarly Detection of CancerAgedTumor biologybusiness.industryBrain NeoplasmsGeneral surgeryHematologyColonoscopyFamilial riskMiddle Agedmedicine.diseaseColorectal Neoplasms Hereditary NonpolyposishumanitiesClinical PracticeEuropeOncologyAdenomatous Polyposis Colipopulation characteristicsFemaleMicrosatellite InstabilitybusinessColorectal NeoplasmsColorectal Surgerygeographic locationsAnnals of oncology : official journal of the European Society for Medical Oncology
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AP5Z1/SPG4 8 frequency in autosomal recessive and sporadic spastic paraplegia

2014

Hereditary spastic paraplegias (HSP) constitute a rare and highly heterogeneous group of neurodegenerative disorders, defined clinically by progressive lower limb spasticity and pyramidal weakness. Autosomal recessive HSP as well as sporadic cases present a significant diagnostic challenge. Mutations in AP5Z1, a gene playing a role in intracellular membrane trafficking, have been recently reported to be associated with spastic paraplegia type 48 (SPG48). Our objective was to determine the relative frequency and clinical relevance of AP5Z1 mutations in a large cohort of 127 HSP patients. We applied a targeted next-generation sequencing approach to analyze all coding exons of the AP5Z1 gene. …

SPG48Nonsynonymous substitutionHereditary spastic paraplegiaGene mutationBioinformaticsDeep sequencing03 medical and health sciencesExon0302 clinical medicinetargeted next-generation sequencingGeneticsSpasticmedicineddc:610hereditary spastic paraplegiaMolecular BiologyGeneGenetics (clinical)030304 developmental biologyGenetic testingGenetics0303 health sciencesClinical Reportmedicine.diagnostic_testbusiness.industrymedicine.disease3. Good healthAP5Z1business030217 neurology & neurosurgeryMolecular Genetics & Genomic Medicine
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Two Patients With History of STEC-HUS, Posttransplant Recurrence and Complement Gene Mutations

2013

Hemolytic uremic syndrome (HUS) is a disease of microangiopathic hemolytic anemia, thrombocytopenia and acute renal failure. About 90% of cases are secondary to infections by Escherichia coli strains producing Shiga-like toxins (STEC-HUS), while 10% are associated with mutations in genes encoding proteins of complement system (aHUS). We describe two patients with a clinical history of STEC-HUS, who developed end-stage renal disease (ESRD) soon after disease onset. They received a kidney transplant but lost the graft for HUS recurrence, a complication more commonly observed in aHUS. Before planning a second renal transplantation, the two patients underwent genetic screening for aHUS-associat…

Shiga-toxinGraft RejectionMaleDNA Primer030232 urology & nephrologyEscherichia coli InfectionGene mutationurologic and male genital diseasesGastroenterology0302 clinical medicineRecurrenceRisk Factorshemic and lymphatic diseasesImmunology and AllergyPharmacology (medical)gene mutationKidney transplantationEscherichia coli Infections0303 health sciencesKidneymedicine.diagnostic_testShiga-Toxigenic Escherichia coliAntigens CD46Microangiopathic hemolytic anemiaMiddle AgedPrognosisfemale genital diseases and pregnancy complications3. Good healthPedigreemedicine.anatomical_structureComplement Factor IComplement factor I; gene mutation; hemolytic uremic syndrome; kidney transplantation; membrane cofactor protein; Shiga-toxin; Adult; Antigens CD46; Case-Control Studies; Complement Factor I; DNA Primers; Escherichia coli Infections; Female; Genetic Testing; Graft Rejection; Hemolytic-Uremic Syndrome; Heterozygote; Humans; Kidney Failure Chronic; Kidney Transplantation; Male; Middle Aged; Mutation; Pedigree; Prognosis; Recurrence; Risk Factors; Shiga-Toxigenic Escherichia coli; Thrombocytopenia; Young Adult; Transplantation; Immunology and Allergy; Pharmacology (medical)FemaleCase-Control StudieHumanAdultmedicine.medical_specialtyHeterozygotePrognosiComplement factor IMembrane Cofactor Protein03 medical and health sciencesYoung AdultInternal medicinemedicineHumansGenetic Testing030304 developmental biologyGenetic testingDNA PrimersTransplantationbusiness.industryCD46Risk Factormedicine.diseaseKidney TransplantationThrombocytopeniaTransplantationCase-Control StudiesImmunologyHemolytic-Uremic SyndromeMutationhemolytic uremic syndromeKidney Failure ChronicbusinessAmerican Journal of Transplantation
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The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

2001

The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically distinct skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations in the SEDL gene. To characterize the molecular basis for SEDL, we have identified the spectrum of SEDL mutations in 30 of 36 unrelated cases of X-linked SEDL ascertained from different ethnic populations. Twenty-one different disease-associated mutations now have been identified throughout the SEDL gene. These include nonsense mutations in exons 4 and 5, missense mutations in exons 4 and 6, small (2–7 bp) and large (>1 kb) deletions, insertions, and putative splicing errors, with one splicing error due to a complex deleti…

Spondyloepiphyseal dysplasiaGenetic MarkersMaleX ChromosomeGenetic LinkageNonsense mutationDNA Mutational AnalysisMolecular Sequence DataBiologymedicine.disease_causeOsteochondrodysplasiasFrameshift mutation03 medical and health sciencesExonStructure-Activity Relationship0302 clinical medicinemedicineEthnicityGeneticsMissense mutationHumansGenetics(clinical)Genetic TestingRNA MessengerGenetics (clinical)X chromosome030304 developmental biologyGenetics0303 health sciencesMutationBone DevelopmentPolymorphism GeneticBase SequenceReverse Transcriptase Polymerase Chain ReactionRacial GroupsMembrane Transport ProteinsExonsArticlesmedicine.diseaseOsteochondrodysplasiaBody Height3. Good healthPhenotypeHaplotypesMutationCarrier Proteins030217 neurology & neurosurgeryTranscription FactorsThe American Journal of Human Genetics
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Global and multiple test procedures using ordered p-values—a review

2004

This paper reviews global and multiple tests for the combination ofn hypotheses using the orderedp-values of then individual tests. In 1987, Rohmel and Streitberg presented a general method to construct global level α tests based on orderedp-values when there exists no prior knowledge regarding the joint distribution of the corresponding test statistics. In the case of independent test statistics, construction of global tests is available by means of recursive formulae presented by Bicher (1989), Kornatz (1994) and Finner and Roters (1994). Multiple test procedures can be developed by applying the closed test principle using these global tests as building blocks. Liu (1996) proposed represe…

Statistics and ProbabilityGeneral methodTest proceduresJoint probability distributionExistential quantificationStatisticsApplied mathematicsStatistics Probability and UncertaintyConstruct (philosophy)Statistical hypothesis testingMathematicsDynamic testingTest (assessment)Statistical Papers
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On the improvement of monumental structure safety: a case study

2006

The present paper deals with the problem of the preservation of the monumental patrimony and discusses a practical application. The analysis methodology based on modern dynamic identification techniques was used for a monumental church in the historic area of Catania (Italy). The dynamic response of the church was measured in terms of accelerations, by means of vibration tests in situ. The numerical analyses highlighted the vulnerability of the drum dome system. Hence interest focused on this part of the building. A reduced scale model of the above system was built to be subjected to dynamic tests on a shaking table at the ENEA laboratory at Casaccia (Rome). Different kinds of reversible de…

Structure (mathematical logic)Engineeringbusiness.industryStiffnessStructural engineeringDrumCivil engineeringIdentification (information)medicineEarthquake shaking tablemedicine.symptombusinessScale modelDynamic testingVulnerability (computing)
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Model-assisted ultrasonic calibration using intentionally embedded defects for in-process weld inspection

2021

Abstract Automated in-process Non-Destructive Testing (NDT) systems are rapidly gaining traction within the manufacturing industry as they reduce manufacturing time and costs. When considering calibration and verification of such systems, creating defects of known geometry and nature during the deposition of a weld can: (I) help examine the capability of the automated system to detect and characterise defects, (II) be used to form a database of signals associated with different defect types to train intelligent defect classification algorithms, and (III) act as a basis for in-process gain calibration during weld inspection at high temperatures, where the ultrasound beam can be skewed as a r…

Ultrasonic CIVA simulationMaterials sciencePhased arraymedicine.medical_treatmentTKS275 steelMechanical engineering02 engineering and technologyWelding010402 general chemistry01 natural scienceslaw.inventionSettore ING-IND/14 - Progettazione Meccanica E Costruzione Di MacchineFusion weldinglawNondestructive testingCalibrationmedicineTIG weldinglcsh:TA401-492General Materials ScienceTime of flight diffraction (TOFD)Autonomous multi-pass weldingIntentionally embedded weld defectPhased Array ultrasonic testing (PAUT)business.industryMechanical EngineeringGas tungsten arc weldingTraction (orthopedics)021001 nanoscience & nanotechnologyIntentionally embedded weld defects0104 chemical sciencesMechanics of MaterialsUltrasonic sensorlcsh:Materials of engineering and construction. Mechanics of materials0210 nano-technologybusinessMaterials & Design
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Vēža ģenētiskās testēšanas laboratorijas izveide Rīgā

2016

Onkoloģiskā saslimšana ir mūsdienās viena no smagākajām diagnozēm, no kuras ik gadu mirst liels cilvēku skaits pasaulē un Latvijā. Katru gadu pieaug pacientu skaits, kuriem ir diagnosticēts kāds no ļaundabīgā audzēja veidiem. Onkoloģijas pacienti ir visas pasaules mēroga problēma, un arī Latvijā vēža pacientu skaita pieaugums ir epidēmijas līmenī pašlaik. Diemžēl Latvijā ir novērojama tendence, ka vēzis tiek diagnosticēts vēlajās tā stadijās. Vēža diagnosticēšana tā agrākajā stadijā nozīmē pacienta dzīvildzes rādītāju pagarinājumu vai pat slimības remisiju. Vēža ģenētika sniedz visaptverošu informāciju par vēža slimības attīstību, tās iespējamajām lokācijām un daudzos gadījumos ar ģenētiskā…

VadībzinātneCancer genetic predisposition testingCancer genetic testingProjectCancer geneticsLaboratory
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