2019
Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum
Kiraly-Borri C, Jevon G, Ji W, Jeffries L, Ricciardi JL, Konstantino M, Ackerman KG, Lakhani SA. Siblings with lethal primary pulmonary hypoplasia and compound heterozygous variants in the AARS2 gene: further delineation of the phenotypic spectrum. Molecular Case Studies 2019, 5: a003699. PMID: 30819764, PMCID: PMC6549552, DOI: 10.1101/mcs.a003699.Peer-Reviewed Original ResearchConceptsPrimary pulmonary hypoplasiaPulmonary hypoplasiaPhenotypic spectrumEvidence of cardiomyopathyPremature ovarian insufficiencyAbsence of cardiomyopathyCompound heterozygous variantsWhole-exome sequencingOvarian insufficiencyAARS2 geneCompound HeterozygousHeterozygous variantsCardiomyopathyNewborn siblingsCarrier statusFurther delineationHypoplasiaUnaffected siblingsMitochondrial cardiomyopathySiblingsFirst reportLeukoencephalopathy
2018
A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death
Penque BA, Su L, Wang J, Ji W, Bale A, Luh F, Fulbright RK, Sarmast U, Sega AG, Konstantino M, Spencer-Manzon M, Pierce R, Yen Y, Lakhani SA. A homozygous variant in RRM2B is associated with severe metabolic acidosis and early neonatal death. European Journal Of Medical Genetics 2018, 62: 103574. PMID: 30439532, DOI: 10.1016/j.ejmg.2018.11.008.Peer-Reviewed Original ResearchOutcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent Age
Sarkar S, Shankaran S, Barks J, T. B, Laptook R, Das A, Ambalavanan N, Van Meurs K, Bell E, Sanchez P, Hintz S, Wyckoff M, Stoll B, Carlo W, Jobe A, Caplan M, Polin R, Keszler M, Oh W, Vohr B, Hensman A, Alksninis B, Basso K, Burke R, Caskey M, Johnson K, Keszler M, Knoll A, Leach T, Little E, McGowan E, Vieira E, Watson V, Ventura S, Walsh M, Fanaroff A, Hibbs A, Wilson-Costello D, Newman N, Payne A, Siner B, Bhola M, Yalcinkaya G, Friedman H, Truog W, Pallotto E, Kilbride H, Gauldin C, Holmes A, Johnson K, Knutson A, Schibler K, Donovan E, Grisby C, Bridges K, Alexander B, Fischer E, Mincey H, Hessling J, Gratton T, Jackson L, Kirker K, Muthig G, Steichen J, Tepe S, Mersmann M, Yolton K, Goldberg R, Cotten C, Goldstein R, Ashley P, Malcolm W, Auten K, Fisher K, Grimes S, Gustafson K, Lohmeyer M, Finkle J, Laughon M, Bose C, Bernhardt J, Bose G, Warner D, Wereszczak J, Carlton D, Adams-Chapman I, Hale E, Loggins Y, Blackwelder A, Bottcher D, Mackie C, Higgins R, Archer S, Sokol G, Poindexter B, Lemons J, Dusick A, Papile L, Lytle C, Hines A, Minnich H, Herron D, Smiley L, Gunn S, Wilson L, Kennedy K, Tyson J, McDavid G, Akpa E, Arldt-McAlister J, Alaniz N, Burson K, Bradt P, Dieterich S, Dempsey A, Duncan A, Evans P, Franco C, Garcia C, Green C, Harris B, Jiminez M, John J, Jones P, Lillie L, Lis A, Major-Kincade T, Martin K, Martin S, Morris B, Orekoya P, Reddoch S, Rodgers S, Siddiki S, Simmons M, Sperry D, Tate P, Whitely L, Wright S, Nelin L, Jadcherla S, Luzader P, Fortney C, Besner G, Parikh N, Wallace D, Gantz M, Poole W, Crawford M, Gabrio J, Hastings B, Newman J, Auman J, Huitema C, Zaterka-Baxter K, Stevenson D, Ball M, Adams M, Davis A, Palmquist A, Proud M, Bentley B, Bruno E, DeAnda M, DeBattista A, Earhart B, Huffman L, Kohn J, Krueger C, Palmquist A, Weiss H, Frantz I, Fiascone J, MacKinnon B, Furey A, Nylen E, McGowan E, Peralta-Carcelen M, Collins M, Cosby S, Biasini F, Johnston K, Nelson K, Patterson C, Phillips V, Whitley S, Devaskar U, Garg M, Purdy I, Chanlaw T, Geller R, Finer N, Kaegi D, Rasmussen M, Wozniak P, Arnell K, Demetrio C, Fuller M, Henderson C, Rich W, Vaucher Y, Colaizy T, Acarregui M, Brumbaugh J, Ellsbury D, Widness J, Johnson K, Campbell D, Eastman D, Krutzfield N, Duara S, Bauer C, Everett-Thomas R, Fajardo-Hiriart S, Rigaud A, Calejo M, Eguaras S, Berkowits M, Garcia A, Pierre H, Stoerger A, Watterberg K, Papile L, Lowe J, Dupont T, Fuller J, Ohls R, Lacy C, Duncan A, Montman R, Schmidt B, Kirpalani H, DeMauro S, Chaudhary A, Abbasi S, Mancini T, Cucinotta D, Bernbaum J, Gerdes M, Hurt H, Cook N, D'Angio C, Phelps D, Guillet R, Lakshminrusimha S, Johnson J, Burnell E, Reubens L, Horihan C, Jensen R, Kushner E, Merzbach J, Myers G, Rowan M, Wadkins H, Scorsone A, Bowman M, Hunn J, Guilford S, Maffett D, Farooq O, Prinzing D, Reynolds A, Sacilowski M, Williams A, Wynn K, Yost K, Zorn W, Zwetsch L, Brion L, Broyles R, Heyne R, Ipson M, Salhab W, Rosenfeld C, Vasil D, Chen L, Guzman A, Hensley G, Hickman J, Leps M, Madison S, Miller N, Morgan J, Pavageau L, Adams S, Dooley C, Heyne E, Lee L, Madden L, Boatman C, Faix R, Yoder B, Osborne K, Spencer C, Weaver-Lewis K, Baker S, Bird K, Burnett J, Steffen M, Jensen J, Winter S, Zanetti K, O'Shea T, Dillard R, Washburn L, Jackson B, Peters N, Chiu K, Allred D, Goldstein D, Halfond R, Peterson C, Waldrep E, Welch C, Morris M, Hounshell G, Pappas A, Bara R, Goldston L, Muran G, Natarajan G, Christensen M, Wiggins S, White D, Ehrenkranz R, Jacobs H, Butler C, Cervone P, Gettner P, Greisman S, Konstantino M, Poulsen J, Romano E, Taft J, Williams J. Outcome of Preterm Infants with Transient Cystic Periventricular Leukomalacia on Serial Cranial Imaging Up to Term Equivalent Age. The Journal Of Pediatrics 2018, 195: 59-65.e3. PMID: 29398046, PMCID: PMC6407628, DOI: 10.1016/j.jpeds.2017.12.010.Peer-Reviewed Original ResearchConceptsCystic periventricular leukomalaciaPeriventricular leukomalaciaCranial imaging studiesNeurodevelopmental impairmentPreterm infantsImaging studiesTerm-equivalent ageWeeks of gestationDays of ageEligible infantsSerial cranialLate deathsAbnormal studiesAdverse outcomesLeukomalaciaInfantsLogistic regressionOutcomesAgeEquivalent ageWeeksDeathGestationStudyImpairment
2017
Markers of Successful Extubation in Extremely Preterm Infants, and Morbidity After Failed Extubation
Chawla S, Natarajan G, Shankaran S, Carper B, Brion L, Keszler M, Carlo W, Ambalavanan N, Gantz M, Das A, Finer N, Goldberg R, Cotten C, Higgins R, Network E, Jobe A, Caplan M, Polin R, Laptook R, Oh W, Hensman A, Gingras D, Barnett S, Lillie S, Francis K, Andrews D, Angela K, Walsh M, Fanaroff A, Newman N, Siner B, Schibler K, Donovan E, Narendran V, Bridges K, Alexander B, Grisby C, Mersmann M, Mincey H, Hessling J, Goldberg R, Auten K, Fisher K, Foy K, Siaw G, Stoll B, Buchter S, Piazza A, Carlton D, Hale E, Archer S, Poindexter B, Lemons J, Hamer F, Herron D, Miller L, Wilson L, Berberich M, Blaisdell C, Gail D, Kiley J, Poole W, Cunningham M, Hastings B, Irene A, Auman J, Huitema C, Pickett J, Wallace D, Zaterka-Baxter K, Van Meurs K, Stevenson D, Ball M, Proud M, Frantz I, Fiascone J, Furey A, MacKinnon B, Nylen E, Collins M, Cosby S, Phillips V, Rasmussen M, Wozniak P, Rich W, Arnell K, Bridge R, Demetrio C, Bell E, Widness J, Klein J, Johnson K, Duara S, Everett-Thomas R, Watterberg K, Ohls R, Rohr J, Lacy C, Phelps D, Laroia N, Reubens L, Burnell E, Sánchez P, Rosenfeld C, Salhab W, Allen J, Guzman A, Hensley G, Lepps M, Martin M, Miller N, Solis A, Vasil D, Wilder K, Kennedy K, Tyson J, Morris B, Harris B, Lis A, Martin S, McDavid G, Tate P, Wright S, Yoder B, Faix R, Burnett J, Jensen J, Osborne K, Spencer C, Weaver-Lewis K, O'Shea T, Peters N, Sood B, Bara R, Billian E, Johnson M, Ehrenkranz R, Jacobs H, Bhandari V, Cervone P, Gettner P, Konstantino M, Poulsen J, Taft J. Markers of Successful Extubation in Extremely Preterm Infants, and Morbidity After Failed Extubation. The Journal Of Pediatrics 2017, 189: 113-119.e2. PMID: 28600154, PMCID: PMC5657557, DOI: 10.1016/j.jpeds.2017.04.050.Peer-Reviewed Original ResearchConceptsGestational age statusHours of ageSuccessful extubationExtubation failureApgar scoreBronchopulmonary dysplasiaPreterm infantsContinuous positive airway pressure groupOxygenation Randomized TrialExtremely preterm infantsDay of extubationAge statusHigher adjusted ratesEarly surfactantExtubation criteriaExtubation statusFailed ExtubationNeonatal morbidityPreterm neonatesVentilatory strategiesElective extubationWeeks' gestationRandomized trialsAdjusted ratesExtubationPatterns of Oxygenation, Mortality, and Growth Status in the Surfactant Positive Pressure and Oxygen Trial Cohort
Di Fiore J, Martin R, Li H, Morris N, Carlo W, Finer N, Walsh M, Health A, Jobe A, Caplan M, Polin R, Laptook R, Oh W, Hensman A, Gingras D, Barnett S, Lillie S, Francis K, Andrews D, Angela K, Fanaroff A, Newman N, Siner B, Zadell A, Schibler K, Donovan E, Bridges K, Alexander B, Grisby C, Mersmann M, Mincey H, Hessling J, Goldberg R, Cotten C, Wallace D, Freedman S, Auten K, Fisher K, Foy K, Stoll B, Piazza A, Buchter S, Carlton D, Hutchinson A, Hale E, Higgins R, Archer S, Poindexter B, Lemons J, Hamer F, Herron D, Miller L, Wilson L, Berberich M, Blaisdell C, Gail D, Kiley J, Gantz M, Das A, Crawford M, Hastings B, Irene A, Auman J, Huitema C, Pickett J, Wallace D, Zaterka-Baxter K, Van Meurs K, Stevenson D, Ball M, Proud M, Frantz I, Fiascone J, Furey A, MacKinnon B, Nylen E, Ambalavanan N, Collins M, Cosby S, Phillips V, Rasmussen M, Wozniak P, Rich W, Arnell K, Bridge R, Demetrio C, Bell E, Widness J, Klein J, Johnson K, Duara S, Everett-Thomas R, Watterberg K, Ohls R, Rohr J, Lacy C, Phelps D, Laroia N, Markowitz G, Reubens L, Burnell E, Sánchez P, Rosenfeld C, Salhab W, Allen J, Grau L, Guzman A, Hensley G, Lepps M, Martin M, Miller N, Solis A, Vasil D, Wilder K, Kennedy K, Tyson J, Morris B, Harris B, Lis A, Martin S, McDavid G, Tate P, Wright S, Yoder B, Faix R, Burnett J, Jensen J, Osborne K, Spencer C, Weaver-Lewis K, O'Shea T, Peters N, Shankaran S, Sood B, Bara R, Billian E, Johnson M, Ehrenkranz R, Narendran V, Bhandari V, Jacobs H, Cervone P, Gettner P, Konstantino M, Poulsen J, Taft J. Patterns of Oxygenation, Mortality, and Growth Status in the Surfactant Positive Pressure and Oxygen Trial Cohort. The Journal Of Pediatrics 2017, 186: 49-56.e1. PMID: 28279433, PMCID: PMC5484739, DOI: 10.1016/j.jpeds.2017.01.057.Peer-Reviewed Original ResearchConceptsDays of lifeIntermittent hypoxemia eventsOxygen saturation targetsOxygen saturationHypoxemia eventsSaturation targetsGestational ageHigher oxygen saturation targetsExtremely preterm infantsMedian oxygen saturationWeeks of gestationLowest oxygen saturationPositive pressureOxygen saturation levelsPatterns of oxygenationIntermittent hypoxemiaPreterm infantsTrial cohortSupplemental oxygenLowest quartileHigh incidenceTarget infantsInfantsSGASurvivalAssociation 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