2024
Unlocking the potential of miRNAs in detecting pulmonary tuberculosis: prospects and pitfalls
Arya R, Kumar S, Vinetz J, Kim J, Chaurasia R. Unlocking the potential of miRNAs in detecting pulmonary tuberculosis: prospects and pitfalls. Expert Reviews In Molecular Medicine 2024, 26: e32. PMID: 39639643, PMCID: PMC11629464, DOI: 10.1017/erm.2024.29.Peer-Reviewed Original ResearchConceptsDisease stageHIV Co-InfectionAnti-TB therapyPotential of miRNAsInfectious diseasesPulmonary TBPulmonary tuberculosisActive TBFalse-positive outcomesTB diagnosticsDisease progressionLack of specificityPrognostic signatureCo-InfectionLethal infectious diseaseDeadliest infectious diseasesPoint-of-care testingTuberculosisDiagnostic biomarkersStandard protocolDiseaseBiomarkersGene expressionNon-invasiveRegulatory role
2018
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia
Peng G, Shen P, Gandotra N, Le A, Fung E, Jelliffe-Pawlowski L, Davis RW, Enns GM, Zhao H, Cowan TM, Scharfe C. Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. Genetics In Medicine 2018, 21: 896-903. PMID: 30209273, PMCID: PMC6416784, DOI: 10.1038/s41436-018-0272-5.Peer-Reviewed Original ResearchConceptsScreen-positive newbornsMethylmalonic acidemiaMMA patientsPathogenic variantsNewborn screeningNewborn metabolic screeningLikely pathogenic variantsSecond-tier testingFalse-positive casesInborn metabolic disordersMMA casesHealthy controlsHispanic ethnicityMetabolic disordersMetabolic screeningPatientsDiverse multiethnic populationsMultiethnic populationMolecular findingsBlood spotsUnknown significanceFalse-positive outcomesNBS programsClinical performanceScreening panel
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