2020
External validation of ELASTIC NET regression models including newborn metabolomic markers for postnatal gestational age estimation in East and South-East Asian infants
Hawken S, Murphy M, Ducharme R, Bota A, Wilson L, Cheng W, Tumulak M, Alcausin M, Reyes M, Qiu W, Potter B, Little J, Walker M, Zhang L, Padilla C, Chakraborty P, Wilson K. External validation of ELASTIC NET regression models including newborn metabolomic markers for postnatal gestational age estimation in East and South-East Asian infants. Gates Open Research 2020, 4: 164. DOI: 10.12688/gatesopenres.13131.1.Peer-Reviewed Original ResearchCohort of infantsBirth weightMetabolomic markersLow-resource settingsResource settingsGrowth-restricted infantsNewborn metabolic profilesHeel-prick blood sampleRetrospective database studyNewborn screening programsGestational age estimationAsian infantsScreening programChinese cohortClinical utilityDatabase studyBlood samplesInfantsPostnatal gestational age estimationCohortUltrasound valuesMetabolic profileInternal validationMetabolomics modelBirth estimatesEthnic variability in newborn metabolic screening markers associated with false‐positive outcomes
Peng G, Tang Y, Gandotra N, Enns GM, Cowan TM, Zhao H, Scharfe C. Ethnic variability in newborn metabolic screening markers associated with false‐positive outcomes. Journal Of Inherited Metabolic Disease 2020, 43: 934-943. PMID: 32216101, PMCID: PMC7540352, DOI: 10.1002/jimd.12236.Peer-Reviewed Original ResearchMeSH KeywordsAcyl-CoA Dehydrogenase, Long-ChainAmino Acid Metabolism, Inborn ErrorsBiomarkersBrain Diseases, MetabolicCaliforniaCongenital Bone Marrow Failure SyndromesEthnicityFalse Positive ReactionsFemaleGestational AgeGlutaryl-CoA DehydrogenaseHumansInfant, NewbornLipid Metabolism, Inborn ErrorsMaleMitochondrial DiseasesMuscular DiseasesNeonatal ScreeningOrnithine Carbamoyltransferase Deficiency DiseaseTandem Mass SpectrometryConceptsMetabolic marker levelsOrnithine transcarbamylase deficiencyMethylmalonic acidemiaClinical variablesMarker levelsBlack infantsMetabolic markersBlood metabolic markersDiverse newborn populationGlutaric acidemia type 1False-positive screensLong-chain acyl-CoA dehydrogenase deficiencyEthnicity-related differencesNewborn screening programsFalse-positive casesInborn metabolic disordersAcyl-CoA dehydrogenase deficiencySingleton babiesGestational ageBirth weightScreening programMetabolic disordersNewborn populationInfluence of ethnicityMetabolic screening
2019
T-Cell Receptor Excision Circles in Newborns with Congenital Heart Disease
Davey B, Elder R, Cloutier M, Bennett N, Lee J, Wang Z, Manning A, Doan T, Griffiths M, Perez M, Ahluwalia N, Toro-Salazar O. T-Cell Receptor Excision Circles in Newborns with Congenital Heart Disease. The Journal Of Pediatrics 2019, 213: 96-102.e2. PMID: 31277900, DOI: 10.1016/j.jpeds.2019.05.061.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseLower TREC levelsTREC levelsGeneral populationT-cell receptor excision circlesCongenital heart disease severityAssociated with clinical complicationsHeart diseaseCombination of prematurityRetrospective chart reviewNewborn screening programsPreterm childrenAssociated with hospitalizationExcision circlesT cellsChart reviewClinical complicationsNewbornsScreening programHigh riskChildren's HospitalInfectionOutcome measuresHospitalDisease
2018
Sickle cell disease
Kato G, Piel F, Reid C, Gaston M, Ohene-Frempong K, Krishnamurti L, Smith W, Panepinto J, Weatherall D, Costa F, Vichinsky E. Sickle cell disease. Nature Reviews Disease Primers 2018, 4: 18010. PMID: 29542687, DOI: 10.1038/nrdp.2018.10.Peer-Reviewed Original ResearchConceptsSickle cell diseaseCell diseaseHaematopoietic stem cell transplantationAcute pain eventsAcute chest syndromeHigh-burden settingsStem cell transplantationCommon acute complicationHemoglobin subunit βNewborn screening programsUniversal newborn screening (NBS) programsChest syndromeAcute complicationsChronic complicationsBlood transfusionCell transplantationPathophysiological mechanismsPain eventsScreening programEarly diagnosisSCD phenotypeImmune systemΒ-globin subunitDiseaseComplications
2014
Feasibility of a Newborn Screening and Follow-up Programme for Sickle Cell Disease among South Gujarat (India) Tribal Populations
Italia Y, Krishnamurti L, Mehta V, Raicha B, Italia K, Mehta P, Ghosh K, Colah R. Feasibility of a Newborn Screening and Follow-up Programme for Sickle Cell Disease among South Gujarat (India) Tribal Populations. Journal Of Medical Screening 2014, 22: 1-7. PMID: 25341880, DOI: 10.1177/0969141314557372.Peer-Reviewed Original ResearchConceptsSickle cell diseaseSCD babiesCell diseaseNewborn screeningSevere clinical complicationsHigh fetal hemoglobinNewborn screening programsSickle cell disordersClinical presentationTribal populationClinical complicationsNatural courseScreening programNewborn babiesCell disordersXmn I polymorphismBabiesDiseaseHome careFetal hemoglobinHigh-performance liquid chromatographyRegular monitoringScreeningPopulationΑ-thalassaemia
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