2025
Detection of pulmonary hypertension in preterm infants with bronchopulmonary dysplasia using oxygen saturation data
Ramanand P, Indic P, Gentle S, Ambalavanan N. Detection of pulmonary hypertension in preterm infants with bronchopulmonary dysplasia using oxygen saturation data. Pediatric Research 2025, 98: 144-151. PMID: 39915610, DOI: 10.1038/s41390-025-03891-8.Peer-Reviewed Original ResearchDetection of pulmonary hypertensionBronchopulmonary dysplasiaPreterm infantsPulmonary hypertensionClinical risk factorsOxygen saturation dataBedside markersPresence of patent ductus arteriosusRisk factorsSignificant clinical risk factorsPatent ductus arteriosusIncreased risk of mortalityMultivariate logistic regression modelIdentification of PHPresence of PHRisk of mortalityOxygen saturation variabilityDuctus arteriosusClinical courseBackgroundPulmonary hypertensionClinical featuresPretermLogistic regression modelsAssociated PHIncreased risk
2023
345 Structural Cardiac Defects and Vascular Anomalies in Vein of Galen Malformation Patients: A Multi-Institutional Cohort With Genetic Sequencing
Piwowarczyk P, Moyer Q, Mekbib K, Kappel A, Zhao S, Shohfi J, Smith H, Orbach D, See A, Smith E, Kahle K. 345 Structural Cardiac Defects and Vascular Anomalies in Vein of Galen Malformation Patients: A Multi-Institutional Cohort With Genetic Sequencing. Neurosurgery 2023, 69: 55-55. DOI: 10.1227/neu.0000000000002375_345.Peer-Reviewed Original ResearchCapillary malformation-arteriovenous malformation syndromeHereditary hemorrhagic telangiectasiaStructural cardiac defectsCutaneous vascular lesionsCardiac defectsWhole-exome sequencingRecurrent epistaxisVascular abnormalitiesVascular lesionsArteriovenous malformationsGeneral populationExome sequencingRole of EphB4Patent ductus arteriosusBrain arteriovenous malformationsAtrial septal defectGalen malformationDuctus arteriosusClinical featuresInstitutional cohortMoyamoya diseaseVascular anomaliesSeptal defectVascular disordersNeurovascular disorderPatent Ductus Arteriosus and Development of Bronchopulmonary Dysplasia-associated Pulmonary Hypertension.
Gentle S, Travers C, Clark M, Carlo W, Ambalavanan N. Patent Ductus Arteriosus and Development of Bronchopulmonary Dysplasia-associated Pulmonary Hypertension. American Journal Of Respiratory And Critical Care Medicine 2023, 207: 921-928. PMID: 36378949, PMCID: PMC10111998, DOI: 10.1164/rccm.202203-0570oc.Peer-Reviewed Original ResearchConceptsBPD-associated pulmonary hypertensionPatent ductus arteriosusDuctus arteriosus patencyPreterm infantsBronchopulmonary dysplasiaPostnatal dayDuctus arteriosusPulmonary hypertensionRespiratory supportModerate to large patent ductus arteriosusBronchopulmonary dysplasia-associated pulmonary hypertensionPreterm infants of gestational ageInfants of gestational ageRetrospective case-control studyEvolving bronchopulmonary dysplasiaExtremely preterm infantsCase-control studyModifiable risk factorsGestational ageDuctal patencyComposite outcomeControl subjectsRisk factorsInfantsPatencyNovel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery
Esmaeilzadeh H, Rezaei N, Aminorroaya A, Rayzan E, Shahkarami S, Seyedpour S, Zoghi S, Aryan Z, Somekh I, Rohlfs M, Klein C. Novel DNMT3B Mutation in a Patient with Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome and a Bronchopulmonary Collateral Artery. Endocrine Metabolic & Immune Disorders - Drug Targets 2023, 23: 410-415. PMID: 35996251, DOI: 10.2174/1871530322666220822141722.Peer-Reviewed Original ResearchConceptsRecurrent respiratory infectionsFacial anomaliesDNMT3B mutationsRecurrent infectionsCollateral arteriesFamily historyRespiratory infectionsHistory of recurrent respiratory infectionsAssociated with recurrent infectionsCentromeric instabilityFamily history of consanguinityRare autosomal recessive disorderRecurrent episodes of pneumoniaMonthly intravenous immunoglobulinProphylactic trimethoprim-sulfamethoxazolePrimary immune deficiencyBone marrow studyLow-set earsPatent ductus arteriosusEvaluation of neutropeniaEpisodes of pneumoniaHistory of consanguinityMild facial anomaliesAutosomal recessive disorderSystolic cardiac murmur
2022
7 The Genetics of Disorders Affecting the Premature Newborn
Prosnitz A, Gruen J, Bhandari V. 7 The Genetics of Disorders Affecting the Premature Newborn. 2022, 149-185. DOI: 10.1016/b978-0-12-815236-2.00006-0.Peer-Reviewed Original ResearchCommon disorderPatent ductus arteriosusRespiratory distress syndromeRetinopathy of prematurityMultiple gene-environment interactionsPathogenesis of disordersBronchopulmonary dysplasiaPreterm infantsDistress syndromeIntraventricular hemorrhageNecrotizing enterocolitisDuctus arteriosusIL-10Premature birthPremature newbornsIL-1βIL-6IGF-1RIL-4RαGene-environment interactionsPrematurityGenetics of disordersReactive oxygen speciesDisordersSurfactant proteins
2021
Fluid Intake in the First Week of Life and the Duration of Hemodynamically Significant Patent Ductus Arteriosus in Extremely Preterm Infants
Mirza H, Garcia J, Bell C, Jones K, Flynn V, Pepe J, Oh W. Fluid Intake in the First Week of Life and the Duration of Hemodynamically Significant Patent Ductus Arteriosus in Extremely Preterm Infants. American Journal Of Perinatology 2021, 40: 1345-1350. PMID: 34384119, DOI: 10.1055/a-1585-6093.Peer-Reviewed Original ResearchConceptsHemodynamically significant patent ductus arteriosusDaily fluid intakeSignificant patent ductus arteriosusAssociated with prolonged durationDays of lifeExtremely preterm infantsPreterm infantsPatent ductus arteriosusHigh fluid intakeFluid intakeWeeks of lifeDuctus arteriosusDiagnosis of hemodynamically significant patent ductus arteriosusMultivariate analysisNeonatal intensive care unitScoring systemTotal fluid intakeRetrospective cohort studyIntensive care unitActual fluid intakeProlonged ventilationTrophic feedingBirth weightFluid administrationCohort studyFluid Intake in the First Week of Life and the Duration of Hemodynamically Significant Patent Ductus Arteriosus in Extremely Preterm Infants
Mirza H, Garcia J, Bell C, Jones K, Flynn V, Pepe J, Oh W. Fluid Intake in the First Week of Life and the Duration of Hemodynamically Significant Patent Ductus Arteriosus in Extremely Preterm Infants. American Journal Of Perinatology 2021 DOI: 10.1055/s-0041-1735623.Peer-Reviewed Original ResearchHemodynamically significant patent ductus arteriosusDaily fluid intakeSignificant patent ductus arteriosusDays of lifeExtremely preterm infantsPatent ductus arteriosusHigh fluid intakePreterm infantsFluid intakeWeeks of lifeDuctus arteriosusDiagnosis of hemodynamically significant patent ductus arteriosusMultivariate analysisNeonatal intensive care unitAssociated with prolonged durationTotal fluid intakeRetrospective cohort studyIntensive care unitActual fluid intakeProlonged ventilationTrophic feedingBirth weightFluid administrationGroup BCohort study
2018
Reducing Radiation Exposure in Cardiac Catheterizations for Congenital Heart Disease
Patel C, Grossman M, Shabanova V, Asnes J. Reducing Radiation Exposure in Cardiac Catheterizations for Congenital Heart Disease. Pediatric Cardiology 2018, 40: 638-649. PMID: 30542920, DOI: 10.1007/s00246-018-2039-9.Peer-Reviewed Original ResearchConceptsCatheterization labRadiation exposureCardiac catheterizationYale-New Haven Children's HospitalDAP/Patent ductus arteriosusAtrial septal defectCongenital heart diseaseDose area productSystems-based interventionsCardiac catheterization labCongenital cardiac catheterizationTotal air kermaPost-intervention dataRadiation dose reductionAir kermaQuality improvement strategiesDuctus arteriosusTranscatheter pulmonaryChildren's HospitalDA dosesSeptal defectHeart diseaseLow fluoroscopyProcedure typeTrends in Long-Term Mortality After Congenital Heart Surgery
Spector LG, Menk JS, Knight JH, McCracken C, Thomas AS, Vinocur JM, Oster ME, St Louis JD, Moller JH, Kochilas L. Trends in Long-Term Mortality After Congenital Heart Surgery. Journal Of The American College Of Cardiology 2018, 71: 2434-2446. PMID: 29793633, PMCID: PMC5978758, DOI: 10.1016/j.jacc.2018.03.491.Peer-Reviewed Original ResearchConceptsStandardized mortality ratioCongenital heart surgeryLong-term mortalityHeart surgeryLong-term survivalGeneral populationOverall standardized mortality ratioSurvival of patientsLarge U.S. cohortNational Death IndexPatent ductus arteriosusPediatric cardiac surgeryAtrial septal defectForms of CHDMulticenter registryCardiac surgeryDuctus arteriosusSingle ventricleDeath IndexGreat arteriesSeptal defectMortality ratioU.S. cohortSurgerySurvival analysisCaffeine controversies
Gentle S, Travers C, Carlo W. Caffeine controversies. Current Opinion In Pediatrics 2018, 30: 177-181. PMID: 29346141, DOI: 10.1097/mop.0000000000000588.Peer-Reviewed Original ResearchConceptsApnea of prematurityBronchopulmonary dysplasiaPreterm infantsEvidence of bronchopulmonary dysplasiaCaffeine usePatent ductus arteriosusRate of motor impairmentCaffeine therapyRate of deathRandomized Controlled TrialsDuctus arteriosusNeurodevelopmental impairmentTherapy initiationNeonatal careCaffeine groupFollow-upTiming of initiationInfantsPretermCaffeineDoseMotor impairmentRisk reductionImpairmentApnea
2017
Association between Use of Prophylactic Indomethacin and the Risk for Bronchopulmonary Dysplasia in Extremely Preterm Infants
Jensen E, Dysart K, Gantz M, Carper B, Higgins R, Keszler M, Laughon M, Poindexter B, Stoll B, Walsh M, Schmidt B, Network E, Caplan M, Polin R, Laptook R, Keszler M, Hensman A, Basso K, Vieira E, Little E, Fanaroff A, Hibbs A, Newman N, Truog W, Kilbride H, Pallotto E, Gauldin C, Holmes A, Johnson K, Knutson A, Schibler K, Donovan E, Alexander B, Grisby C, Hessling J, Fischer E, Jackson L, Kirker K, Muthig G, Goldberg R, Cotten C, Fisher K, Auten K, Foy K, Grimes S, Finkle J, Laughon M, Bose C, Bernhardt J, Bose G, Carlton D, Hale E, Archer S, Poindexter B, Sokol G, Wilson L, Herron D, Sánchez P, Nelin L, Jadcherla S, Luzader P, Fortney C, Besner G, Parikh N, Das A, Wallace D, Auman J, Crawford M, Huitema C, Zaterka-Baxter K, Van Meurs K, Adams M, Stevenson D, Ball M, Palmquist A, Proud M, Frantz I, Fiascone J, MacKinnon B, Nylen E, Carlo W, Ambalavanan N, Collins M, Cosby S, Devaskar U, Garg M, Chanlaw T, Geller R, Bell E, Ellsbury D, Widness J, Johnson K, Campbell D, Watterberg K, Ohls R, Lacy C, Montman R, Brown S, Wussow T, Hartenberger C, Schmidt B, Kirpalani H, DeMauro S, Chaudhary A, Abbasi S, Mancini T, Cucinotta D, D'Angio C, Guillet R, Lakshminrusimha S, Reynolds A, Reubens L, Jensen R, Maffett D, Wadkins H, Sacilowski M, Williams A, Guilford S, Horihan C, Kennedy K, Tyson J, Burson K, Harris B, McDavid G, Tate P, Wright S, Sánchez P, Brion L, Chen L, Guzman A, Leps M, Miller N, Morgan J, Vasil D, Torres L, Faix R, Yoder B, Osborne K, Bird K, Burnett J, Jensen J, Spencer C, Weaver-Lewis K, Zanetti K, Shankaran S, Barks J, Bara R, Johnson M, Christensen M, Wiggins S, Ehrenkranz R, Jacobs H, Cervone P, Konstantino M, Poulsen J, Taft J. Association between Use of Prophylactic Indomethacin and the Risk for Bronchopulmonary Dysplasia in Extremely Preterm Infants. The Journal Of Pediatrics 2017, 186: 34-40.e2. PMID: 28258737, PMCID: PMC5484725, DOI: 10.1016/j.jpeds.2017.02.003.Peer-Reviewed Original ResearchConceptsProphylactic indomethacinBronchopulmonary dysplasiaPatent ductus arteriosusPreterm infantsDuctus arteriosusBirth weightLower oddsHuman Development Neonatal Research NetworkComposite of deathRetrospective cohort studyExtremely preterm infantsPrespecified subgroup analysisWeeks postmenstrual ageNeonatal Research NetworkHours of lifeFirst dayCohort studyPostmenstrual ageGestational ageSupplemental oxygenPotential confoundersSubgroup analysisLarge cohortChild healthInfants
2016
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus
Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Behjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. American Journal Of Human Genetics 2016, 99: 1000. PMID: 27716515, PMCID: PMC5065682, DOI: 10.1016/j.ajhg.2016.09.003.Peer-Reviewed Original ResearchMutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus
Li N, Subrahmanyan L, Smith E, Yu X, Zaidi S, Choi M, Mane S, Nelson-Williams C, Behjati M, Kazemi M, Hashemi M, Fathzadeh M, Narayanan A, Tian L, Montazeri F, Mani M, Begleiter ML, Coon BG, Lynch HT, Olson EN, Zhao H, Ruland J, Lifton RP, Mani A. Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus Arteriosus. American Journal Of Human Genetics 2016, 98: 1082-1091. PMID: 27181681, PMCID: PMC4908195, DOI: 10.1016/j.ajhg.2016.03.022.Peer-Reviewed Original ResearchConceptsVascular smooth muscle cellsHistone methyl transferase activityWhole-exome sequencingGenome-wide linkage analysisWild-type proteinPatent ductus arteriosusMethyl transferase activityEpigenetic regulationLoss of functionTranscriptional suppressorNuclear proteinsPremature differentiationMethyltransferase activityCommon congenital heart defectUndifferentiated stageIndependent mutationsDuctus arteriosusLinkage analysisIntracellular redistributionNumber of VSMCsPRDM6Smooth muscle cellsProteinMutationsDisease mechanisms
2015
Ambient air pollution and congenital heart defects in Lanzhou, China
Jin L, Qiu J, Zhang Y, Qiu W, He X, Wang Y, Sun Q, Li M, Zhao N, Cui H, Liu S, Tang Z, Chen Y, Yue L, Da Z, Xu X, Huang H, Liu Q, Bell ML, Zhang Y. Ambient air pollution and congenital heart defects in Lanzhou, China. Environmental Research Letters 2015, 10: 074005. PMID: 31555342, PMCID: PMC6760856, DOI: 10.1088/1748-9326/10/7/074005.Peer-Reviewed Original ResearchPatent ductus arteriosusEntire pregnancyCongenital heart defectsMaternal exposureCongenital malformationsHeart defectsCongenital heartFolic acid intakeSingleton live birthsTherapeutic drug usePositive associationAmbient air pollutionDuctus arteriosusSeason of conceptionGreat arteriesSignificant positive associationAcid intakeMaternal ageHealth burdenLive birthsCardiac septumTrimesterDrug usePregnancyLogistic regressionUse of covered stents in the treatment of aortic coarctation
Chamié F, Chamié D, do Nascimento Simões L, Silva R. Use of covered stents in the treatment of aortic coarctation. Journal Of Transcatheter Interventions 2015, 23: 139-144. DOI: 10.1016/j.rbciev.2015.12.014.Peer-Reviewed Original ResearchAortic coarctationMethodsThe records of patientsTreatment of aortic coarctationBicuspid aortic valvePatent ductus arteriosusRecords of patientsSystemic arterial hypertensionBlood pressure levelsTreating CoANative coarctationDuctus arteriosusMethodsThe recordsMinor complicationsArterial hypertensionCase seriesPrimary treatmentAortic valveCoarctationFollow-upPrimary implantationStent dilatationPatientsUse of CSConventional stentsComplicationsCombined percutaneous treatment of structural and congenital heart defects
Chamié F, Chamié D, do Nascimento Simões L, Mattos R. Combined percutaneous treatment of structural and congenital heart defects. Journal Of Transcatheter Interventions 2015, 23: 61-65. DOI: 10.1016/j.rbciev.2015.01.005.Peer-Reviewed Original ResearchPatent foramen ovaleSeptal defectOstium secundum atrial septal defectPulmonary valve stenosisCongenital heart defectsVentricular septal defectPatent ductus arteriosusAtrial septal defectLeft atrial appendageAortic coarctationResultsTen patientsAortopulmonary fistulaDuctus arteriosusHeart defectsValve stenosisTherapeutic optionsAtrial appendageCongenital defectsPercutaneous treatmentFollow-upForamen ovaleSpecialized centersConclusionsThe small numberCombined proceduresAged 1
2014
The Genetics of Disorders Affecting the Premature Newborn
Prosnitz A, Gruen J, Bhandari V. The Genetics of Disorders Affecting the Premature Newborn. 2014 DOI: 10.1016/b978-0-12-801238-3.05514-8.Peer-Reviewed Original ResearchPatent ductus arteriosusRespiratory distress syndromeRetinopathy of prematurityBronchopulmonary dysplasiaIntraventricular hemorrhageNecrotizing enterocolitisDistress syndromeDuctus arteriosusPremature newbornsCommon disorderGenetics of disordersGenetic etiologyDisordersEnterocolitisArteriosusPrematurityHemorrhageRetinopathyNewbornsDysplasiaInfantsSyndromeEtiology
2013
Chapter 41 The Genetics of Disorders Affecting the Premature Newborn
Prosnitz A, Gruen J, Bhandari V. Chapter 41 The Genetics of Disorders Affecting the Premature Newborn. 2013, 1-22. DOI: 10.1016/b978-0-12-383834-6.00171-3.Peer-Reviewed Original ResearchCommon disorderPatent ductus arteriosusRespiratory distress syndromeRetinopathy of prematurityMultiple gene-environment interactionsPathogenesis of disordersBronchopulmonary dysplasiaDistress syndromeIntraventricular hemorrhageNecrotizing enterocolitisPreterm infantsDuctus arteriosusIL-10Premature birthPremature newbornsIL-1βIL-6IGF-1RIL-4RαGene-environment interactionsPrematurityGenetics of disordersReactive oxygen speciesDisordersSurfactant proteinsSpecific Aspects of Percutaneous Closure of Patent Ductus Arteriosus in Adult Patients
Chamié F, Simões L, Chamié D, Mattos R, de Castro P. Specific Aspects of Percutaneous Closure of Patent Ductus Arteriosus in Adult Patients. Journal Of Transcatheter Interventions 2013, 21: 67-72. DOI: 10.1016/s2214-1235(15)30107-1.Peer-Reviewed Original ResearchClosure of patent ductus arteriosusPatent ductus arteriosusPercutaneous closure of patent ductus arteriosusAdult patent ductus arteriosusDuctus arteriosusPercutaneous closurePatent ductus arteriosus closureMean follow-upIncreased surgical riskMuscular VSD deviceDuctus arteriosus closureYears of ageTransthoracic echocardiographyMethodsThe recordsResidual shuntSurgical riskVSD devicePDA occluderAdult patientsSizing balloonArteriosusCongenital defectsFollow-upFlipper coilsPatients
2010
Patent Ductus Arteriosus
Fuller S, Gruber P. Patent Ductus Arteriosus. 2010, 283-288. DOI: 10.1007/978-1-4419-6643-8_35.Peer-Reviewed Original ResearchLeft subclavian arteryDuctus arteriosusSubclavian arteryAortic archLeft common carotid arteryPulmonary artery endRecurrent laryngeal branchSixth aortic archPatent ductus arteriosusLeft phrenic nerveMain pulmonary arteryCommon carotid arteryNormal fetal structuresLaryngeal branchPhrenic nerveVagus nervePulmonary arteryThoracic aortaVagus trunkCarotid arteryArteriosusArteryFetal structuresPericardiumNerve
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