2018
Clinical 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 data
2011
Partial Exchange Transfusion for Polycythemia Hyperviscosity Syndrome
Hopewell B, Steiner L, Ehrenkranz R, Bizzarro M, Gallagher P. Partial Exchange Transfusion for Polycythemia Hyperviscosity Syndrome. American Journal Of Perinatology 2011, 28: 557-564. PMID: 21365533, DOI: 10.1055/s-0031-1274504.Peer-Reviewed Original ResearchConceptsPartial exchange transfusionPercent of patientsRisk factorsMaternal diabetesExchange transfusionSignificant complicationsHyperviscosity syndromeNeonatal intensive care unitYale-New Haven HospitalLife-threatening complicationsLong-term followIntensive care unitNeonatal medical recordsPatient demographicsRetrospective reviewCare unitMedical recordsRisk populationsComplicationsPatientsStudy periodSignificant decreaseTransfusionDiabetesSyndrome
2007
A Decline in the Frequency of Neonatal Exchange Transfusions and Its Effect on Exchange-Related Morbidity and Mortality
Steiner LA, Bizzarro MJ, Ehrenkranz RA, Gallagher PG. A Decline in the Frequency of Neonatal Exchange Transfusions and Its Effect on Exchange-Related Morbidity and Mortality. Pediatrics 2007, 120: 27-32. PMID: 17606558, DOI: 10.1542/peds.2006-2910.Peer-Reviewed Original ResearchConceptsExchange transfusionNeonatal exchange transfusionPatient demographicsDouble volume exchange transfusionSpecial care unit admissionsCare unit admissionRetrospective chart reviewSerious underlying conditionsUnit admissionIntravenous immunoglobulinAdverse eventsChart reviewCalcium replacementHigher proportionPlatelet transfusionsPostnatal careSingle institutionUnderlying conditionTransfusionPatientsClinical practiceAmerican AcademyUniform protocolSame time periodManagement guidelines