2016
Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature
Sylvester KG, Kastenberg ZJ, Moss RL, Enns GM, Cowan TM, Shaw GM, Stevenson DK, Sinclair TJ, Scharfe C, Ryckman KK, Jelliffe-Pawlowski LL. Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature. The Journal Of Pediatrics 2016, 181: 80-85.e1. PMID: 27836286, PMCID: PMC5538349, DOI: 10.1016/j.jpeds.2016.10.019.Peer-Reviewed Original ResearchMeSH KeywordsBiomarkersCaliforniaCarnitineCohort StudiesConfidence IntervalsEnterocolitis, NecrotizingFemaleFollow-Up StudiesGestational AgeHumansIncidenceInfant, NewbornInfant, PrematureIntensive Care Units, NeonatalMaleMultivariate AnalysisNeonatal ScreeningOdds RatioReproducibility of ResultsRetrospective StudiesRisk AssessmentVulnerable PopulationsConceptsModel development cohortValidation cohortAcylcarnitine levelsAcylcarnitine profilesNeonatal intensive care unitAbnormal fatty acid metabolismRetrospective cohort studyTotal parenteral nutritionDevelopment of NECIntensive care unitRisk stratification modelNewborn screening resultsDisease prevention strategiesLog unit increaseFatty acid metabolismCohort studyNecrotizing enterocolitisParenteral nutritionPreterm birthCare unitDevelopment of diseaseBirth weightBiologic surrogatesFree carnitineNewborn screening
2009
Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy
Schrijver I, Pique LM, Traynis I, Scharfe C, Sehnert AJ. Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy. Genetics In Medicine 2009, 11: 118-126. PMID: 19265752, DOI: 10.1097/gim.0b013e318190356b.Peer-Reviewed Original ResearchConceptsHereditary optic neuropathyPediatric patientsWorse clinical symptomsHigh-performance liquid chromatographyDNA testingLeber's hereditary optic neuropathyIndividual sequence changesMutation analysisNovel heteroplasmic mutationClinical diagnostic useIdiopathic cardiomyopathyRare causeClinical symptomsOptic neuropathyDefinitive diagnosisPediatric cardiomyopathyAdditional functional parametersMultisystemic diseaseCardiomyopathyPathogenic changesUncertain pathogenicityLiquid chromatographyPatientsRespiratory chain activityDiagnostic use