2021
D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia
Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang Y, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. D‐bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia. American Journal Of Medical Genetics Part A 2021, 188: 357-363. PMID: 34623748, PMCID: PMC8678290, DOI: 10.1002/ajmg.a.62520.Peer-Reviewed Original ResearchMeSH KeywordsExonsHearing Loss, SensorineuralHumansHypoglycemiaInfant, NewbornPeroxisomal Multifunctional Protein-2Protein DeficiencyConceptsBifunctional protein deficiencyEarly mortalityClinical spectrumPersistent hypoglycemiaDBP deficiencyFat-soluble vitamin deficiencyImportant prognostic informationProtein deficiencyEnzyme deficiencyYears of lifePeroxisomal enzyme deficienciesResidual enzyme functionAbsent enzyme activityRapid whole-genome sequencingUnexplained hypoglycemiaEarly managementPrognostic informationVitamin deficiencyClinical severityNeonatal hypotoniaHigh burdenPeroxisomal dysfunctionPatient's fatherPsychomotor delayLong-chain fatty acidsDifficulty in Diagnosis of Hereditary Spherocytosis in the Neonate
Gallagher PG. Difficulty in Diagnosis of Hereditary Spherocytosis in the Neonate. Pediatrics 2021, 148: e2021051100. PMID: 34376531, DOI: 10.1542/peds.2021-051100.Peer-Reviewed Original ResearchAn Initiative to Decrease Laboratory Testing in a NICU
Klunk CJ, Barrett RE, Peterec SM, Blythe E, Brockett R, Kenney M, Natusch A, Thursland C, Gallagher PG, Pando R, Bizzarro MJ. An Initiative to Decrease Laboratory Testing in a NICU. Pediatrics 2021, 148: e2020000570. PMID: 34088759, DOI: 10.1542/peds.2020-000570.Peer-Reviewed Original ResearchMeSH KeywordsBilirubinBlood GlucoseBlood VolumeCarbon DioxideConnecticutHemorrhageHospitals, PediatricHumansInfant, NewbornIntensive Care Units, NeonatalLaboratories, HospitalMonitoring, PhysiologicPainPoint-of-Care TestingProcedures and Techniques UtilizationQuality ImprovementUnnecessary ProceduresConceptsExtreme laboratory valuesPatient daysLaboratory valuesOutcome measuresMultifaceted quality improvement projectSerum bilirubin testSecondary outcome measuresPrimary outcome measureHealthcare Improvement's ModelNotable adverse effectsLaboratory testingQuality improvement projectOrder of interventionsBlood lossNeurodevelopmental impairmentBlood glucoseSecondary measuresSustained reductionBilirubin testBlood volumeGuideline developmentLaboratory testsUnnecessary testsNICUAdverse effectsDisparities in perinatal health: what can we do?
Forson-Dare Z, Harris LM, Gallagher PG. Disparities in perinatal health: what can we do? Journal Of Perinatology 2021, 41: 363-364. PMID: 33510417, DOI: 10.1038/s41372-021-00920-2.Peer-Reviewed Original Research
2020
Vertical Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 From the Mother to the Infant
Mimouni FB, Gallagher P, Mendlovic J. Vertical Transmission of Severe Acute Respiratory Syndrome Coronavirus 2 From the Mother to the Infant. JAMA Pediatrics 2020, 174: 1006-1006. PMID: 32687567, DOI: 10.1001/jamapediatrics.2020.2144.Peer-Reviewed Original ResearchPerinatal aspects on the covid-19 pandemic: a practical resource for perinatal–neonatal specialists
Mimouni F, Lakshminrusimha S, Pearlman SA, Raju T, Gallagher PG, Mendlovic J. Perinatal aspects on the covid-19 pandemic: a practical resource for perinatal–neonatal specialists. Journal Of Perinatology 2020, 40: 820-826. PMID: 32277162, PMCID: PMC7147357, DOI: 10.1038/s41372-020-0665-6.Peer-Reviewed Original ResearchConceptsPerinatal aspectsCOVID-19 infectionCOVID-19SARS-CoV-2Maternal infectionThird trimesterEarly pregnancyPregnant womenRisk factorsSevere diseaseHuman milkDisease severityVertical transmissionAvailable evidenceGoogle ScholarCOVID-19 informationWomenPregnancyNeonatesCOVID-19 pandemicWebsites of organizationsInfectionAvailable literatureCurrent knowledgePandemicGenotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency
Bianchi P, Fermo E, Lezon‐Geyda K, van Beers E, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al‐Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. American Journal Of Hematology 2020, 95: 472-482. PMID: 32043619, PMCID: PMC8127999, DOI: 10.1002/ajh.25753.Peer-Reviewed Original ResearchConceptsNon-missense mutationsPyruvate kinase deficiencyRare severe complicationsFrequency of complicationsLower extremity ulcerationsLower hemoglobin levelsKinase deficiencyNatural history studiesDifferent pathogenic variantsTerms of hemoglobinCongenital hemolytic anemiaGenotype-phenotype correlationLifetime transfusionsDeficient womenPregnancy outcomesPulmonary hypertensionSevere complicationsSplenectomy statusHemoglobin levelsHepatic failureNewborn periodClinical similaritiesWide genetic heterogeneityIron overloadHemolytic anemiaWhy so little progress in regionalization of perinatal care when transport of high-risk neonates remains a substantial risk?
Bizzarro MJ, Gallagher PG. Why so little progress in regionalization of perinatal care when transport of high-risk neonates remains a substantial risk? Journal Of Perinatology 2020, 40: 357-358. PMID: 31996764, DOI: 10.1038/s41372-020-0600-x.Peer-Reviewed Original Research
2018
KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV
Ravindranath Y, Johnson RM, Goyette G, Buck S, Gadgeel M, Gallagher PG. KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV. Journal Of Pediatric Hematology/Oncology 2018, 40: e405-e409. PMID: 29300242, PMCID: PMC6092092, DOI: 10.1097/mph.0000000000001056.Peer-Reviewed Original ResearchConceptsCongenital dyserythropoietic anemia type IVClinical courseSevere clinical courseType IVSevere clinical phenotypeIV patientsFetal anemiaTransfusion dependenceFunctional abnormalitiesClinical phenotypePatientsHematologic phenotypeChildrenErythrocyte membranesPhenotypeSplenectomyAnemiaComplete sex reversalFetalisAbnormalitiesClinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study
Grace RF, Bianchi P, van Beers EJ, Eber SW, Glader B, Yaish HM, Despotovic JM, Rothman JA, Sharma M, McNaull MM, Fermo E, Lezon-Geyda K, Morton DH, Neufeld EJ, Chonat S, Kollmar N, Knoll CM, Kuo K, Kwiatkowski JL, Pospíšilová D, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Kunz J, Sheth S, Rose MJ, Bradeen HA, Neu N, Guo D, Al-Sayegh H, London WB, Gallagher PG, Zanella A, Barcellini W. Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. Blood 2018, 131: 2183-2192. PMID: 29549173, DOI: 10.1182/blood-2017-10-810796.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAnemia, Hemolytic, Congenital NonspherocyticBlood TransfusionChildChild, PreschoolCholecystectomyCombined Modality TherapyEnzyme ActivationFemaleGenetic Association StudiesGenotypeHumansInfantInfant, NewbornMaleMiddle AgedMutationPhenotypePyruvate KinasePyruvate Metabolism, Inborn ErrorsSplenectomySymptom AssessmentTreatment OutcomeYoung AdultConceptsIron overloadHemolytic anemiaPyruvate kinase deficiencyChildren age 5 yearsProspective clinical dataPK deficiencySeverity of anemiaKinase deficiencyNatural history studiesAge 5 yearsCongenital nonspherocytic hemolytic anemiaCongenital hemolytic anemiaBaseline hemoglobinPostsplenectomy thrombosisMulticenter registryPostsplenectomy sepsisPulmonary hypertensionSimultaneous cholecystectomyFrequent complicationPerinatal complicationsTransfusion burdenAplastic crisisExchange transfusionLeg ulcersRadiologic dataA Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis
Yang E, Seo-Mayer P, Lezon-Geyda K, Badior KE, Li J, Casey JR, Reithmeier RAF, Gallagher PG. A Ser725Arg mutation in Band 3 abolishes transport function and leads to anemia and renal tubular acidosis. Blood 2018, 131: 1759-1763. PMID: 29483102, PMCID: PMC5897869, DOI: 10.1182/blood-2018-01-827725.Peer-Reviewed Original Research
2017
Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis
Glogowska E, Schneider ER, Maksimova Y, Schulz VP, Lezon-Geyda K, Wu J, Radhakrishnan K, Keel SB, Mahoney D, Freidmann AM, Altura RA, Gracheva EO, Bagriantsev SN, Kalfa TA, Gallagher PG. Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis. Blood 2017, 130: 1845-1856. PMID: 28716860, PMCID: PMC5649553, DOI: 10.1182/blood-2017-05-786004.Peer-Reviewed Original ResearchConceptsHereditary xerocytosisMembrane protein traffickingNext-generation sequencing-based techniquesSequencing-based techniquesMembrane protein expressionProtein traffickingFunction phenotypesCell biologyOsmotic stressWild typePIEZO1 variantsFunctional assaysNovel mechanismGenetic heterogeneityMutationsProtein expressionErythrocyte hydrationXerocytosisVivo systemTraffickingPartial gainPhenotypeChannel inactivationCation permeabilityCongenital hemolytic anemia
2015
A Pediatrician’s Practical Guide to Diagnosing and Treating Hereditary Spherocytosis in Neonates
Christensen RD, Yaish HM, Gallagher PG. A Pediatrician’s Practical Guide to Diagnosing and Treating Hereditary Spherocytosis in Neonates. Pediatrics 2015, 135: 1107-1114. PMID: 26009624, PMCID: PMC4444801, DOI: 10.1542/peds.2014-3516.Peer-Reviewed Original ResearchMeSH KeywordsAnkyrinsDecision TreesHumansInfant, NewbornPediatricsPractice Guidelines as TopicSpherocytosis, HereditaryConceptsHereditary spherocytosisDiagnosis of HSABO hemolytic diseaseGlucose-6-phosphate dehydrogenase deficiencyHazardous hyperbilirubinemiaErythrocyte transfusionSymptomatic anemiaNeurologic dysfunctionPrompt diagnosisAdverse outcomesEmergency departmentNewborn periodNeonatal presentationNewborn infantsHemolytic diseaseAppropriate treatmentEarly suspicionHemolytic anemiaHemolytic conditionsAnticipatory guidanceNeonatesFirst monthAnemiaDehydrogenase deficiencyHyperbilirubinemiaClinical and Molecular Epidemiology of Methicillin-Resistant Staphylococcus aureus in a Neonatal Intensive Care Unit in the Decade following Implementation of an Active Detection and Isolation Program
Nelson MU, Bizzarro MJ, Baltimore RS, Dembry LM, Gallagher PG. Clinical and Molecular Epidemiology of Methicillin-Resistant Staphylococcus aureus in a Neonatal Intensive Care Unit in the Decade following Implementation of an Active Detection and Isolation Program. Journal Of Clinical Microbiology 2015, 53: 2492-2501. PMID: 26019206, PMCID: PMC4508396, DOI: 10.1128/jcm.00470-15.Peer-Reviewed Original ResearchMeSH KeywordsDNA, BacterialEpidemiological MonitoringFemaleGenetic VariationGenotypeGenotyping TechniquesHumansInfantInfant, NewbornIntensive Care Units, NeonatalMaleMethicillin-Resistant Staphylococcus aureusMolecular EpidemiologyMolecular TypingRetrospective StudiesStaphylococcal InfectionsVirulence FactorsConceptsNeonatal intensive care unitMethicillin-resistant Staphylococcus aureusIntensive care unitMRSA colonizationMolecular epidemiologyCare unitStaphylococcal cassette chromosome mec type IIAccessory gene regulator (agr) groupsMRSA colonization rateToxic shock syndrome toxinAgr group 1Exfoliative toxin AStaphylococcus aureusPotential virulence factor genesVirulence factor genesMRSA infectionSignificant morbidityClinical differencesPatient daysPulsed-field gel electrophoresisToxin AUSA300 strainGroup 1Continued vigilanceInfectionNeonatal Sepsis 2004-2013: The Rise and Fall of Coagulase-Negative Staphylococci
Bizzarro MJ, Shabanova V, Baltimore RS, Dembry LM, Ehrenkranz RA, Gallagher PG. Neonatal Sepsis 2004-2013: The Rise and Fall of Coagulase-Negative Staphylococci. The Journal Of Pediatrics 2015, 166: 1193-1199. PMID: 25919728, PMCID: PMC4413005, DOI: 10.1016/j.jpeds.2015.02.009.Peer-Reviewed Original ResearchConceptsEarly-onset sepsisLate-onset sepsisNeonatal intensive care unitCoagulase-negative staphylococciIntensive care unitCare unitLevel IV neonatal intensive care unitEpisodes of sepsisLow birth weightInfection prevention initiativesInfection prevention effortsPercent of casesGroup B streptococciHospital courseSepsis episodesMost infantsBirth weightCommon organismB streptococciSepsisOutcome dataAdditional surveillancePrevention effortsStudy periodInfants
2014
One size does not fit all: why universal decolonization strategies to prevent methicillin-resistant Staphylococcus aureus colonization and infection in adult intensive care units may be inappropriate for neonatal intensive care units
Nelson MU, Bizzarro MJ, Dembry LM, Baltimore RS, Gallagher PG. One size does not fit all: why universal decolonization strategies to prevent methicillin-resistant Staphylococcus aureus colonization and infection in adult intensive care units may be inappropriate for neonatal intensive care units. Journal Of Perinatology 2014, 34: 653-655. PMID: 25010223, PMCID: PMC4152419, DOI: 10.1038/jp.2014.125.Peer-Reviewed Original ResearchConceptsNeonatal intensive care unitIntensive care unitAdult intensive care unitsCare unitUniversal decolonizationMethicillin-resistant Staphylococcus aureus (MRSA) colonizationMRSA-positive clinical cultureUnique patient populationLarge multicenter trialsStaphylococcus aureus colonizationLong-term safetyMupirocin applicationAdverse eventsPreterm infantsLarge multicenterMulticenter trialPatient populationAureus colonizationDecolonization strategiesClinical culturesDisease controlHealthcare ResearchTrialsTrial methodsWidespread implementationClinical and Laboratory Factors That Predict Death in Very Low Birth Weight Infants Presenting With Late-onset Sepsis
Levit O, Bhandari V, Li FY, Shabanova V, Gallagher PG, Bizzarro MJ. Clinical and Laboratory Factors That Predict Death in Very Low Birth Weight Infants Presenting With Late-onset Sepsis. The Pediatric Infectious Disease Journal 2014, 33: 143-146. PMID: 24418836, PMCID: PMC3917323, DOI: 10.1097/inf.0000000000000024.Peer-Reviewed Original ResearchConceptsLate-onset sepsisLow birth weight infantsBirth weight infantsIndependent risk factorLaboratory factorsWeight infantsVLBW infantsRisk factorsCases of LOSEpisodes of LOSRisk of LOSFungal LOSNeonatal intensive care unitMultivariate logistic regression analysisSepsis-related deathsIntensive care unitOnset of illnessSepsis-associated mortalityGram-positive infectionsLogistic regression analysisOnset of diseasePresentation of illnessComposite risk profileLaboratory signsNecrotizing enterocolitis
2013
Concurrent Bloodstream Infections in Infants with Necrotizing Enterocolitis
Bizzarro MJ, Ehrenkranz RA, Gallagher PG. Concurrent Bloodstream Infections in Infants with Necrotizing Enterocolitis. The Journal Of Pediatrics 2013, 164: 61-66. PMID: 24139563, DOI: 10.1016/j.jpeds.2013.09.020.Peer-Reviewed Original ResearchConceptsBloodstream infectionsPost-NECNegative bacilliLate-onset bloodstream infectionConcurrent bloodstream infectionHospital course dataMean gestational ageCases of NECDiagnosis of NECOnset of diseaseMicrobiologic etiologyUnderappreciated complicationMicrobiologic dataNecrotizing enterocolitisGestational ageRetrospective reviewSingle centerSurgical interventionBirth weightRisk factorsHigher oddsInfantsNECEnterocolitisInfectionLate-onset Leclercia adecarboxylata sepsis in a premature neonate
Nelson MU, Maksimova Y, Schulz V, Bizzarro MJ, Gallagher PG. Late-onset Leclercia adecarboxylata sepsis in a premature neonate. Journal Of Perinatology 2013, 33: 740-742. PMID: 23986093, DOI: 10.1038/jp.2013.34.Peer-Reviewed Original Research
2012
Methicillin-Resistant Staphylococcus aureus in the Neonatal Intensive Care Unit
Nelson MU, Gallagher PG. Methicillin-Resistant Staphylococcus aureus in the Neonatal Intensive Care Unit. Seminars In Perinatology 2012, 36: 424-430. PMID: 23177801, PMCID: PMC3508470, DOI: 10.1053/j.semperi.2012.06.004.Peer-Reviewed Original ResearchMeSH KeywordsAnti-Bacterial AgentsBacterial Physiological PhenomenaClinical ProtocolsCommunity-Acquired InfectionsCost of IllnessCross InfectionHumansInfant, NewbornInfant, PrematureInfant, Premature, DiseasesInfection ControlIntensive Care Units, NeonatalMethicillin-Resistant Staphylococcus aureusPrevalenceRisk FactorsStaphylococcal InfectionsConceptsNeonatal intensive care unitMethicillin-resistant Staphylococcus aureusIntensive care unitCare unitCharacteristics of MRSAStaphylococcus aureusCertain infantsMRSA infectionNICU populationIll infantsRisk factorsEpidemiologic assessmentClinical interventionsInfectionFrequent sourceInfantsTransmission patternsInterventionAureusMolecular analysisAdditional factorsMorbidityNeonatesNumerous strategiesPrevention