2024
Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders
Bibi A, Ji W, Jeffries L, Zerillo C, Konstantino M, Mis E, Khursheed F, Khokha M, Lakhani S, Malik S. Exome sequencing reveals genetic heterogeneity in consanguineous Pakistani families with neurodevelopmental and neuromuscular disorders. American Journal Of Medical Genetics Part C Seminars In Medical Genetics 2024, e32103. PMID: 39152716, DOI: 10.1002/ajmg.c.32103.Peer-Reviewed Original ResearchExome sequencingConsanguineous Pakistani familyDisease-causing genesFamily segregation analysisAssociated with phenotypesAffected individualsAccurate molecular diagnosisACMG criteriaCandidate variantsGenomic studiesPakistani familyGenomic researchGenetic heterogeneityNovel variantsSegregation analysisConsanguineous familyGenetic variantsNeurodevelopmental disordersHomozygous variantNeuromuscular disordersMiddle-income countriesMolecular diagnosisExomeES dataClinical phenotype
2023
SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability
O'Brien M, Pryzhkova M, Lake E, Mandino F, Shen X, Karnik R, Atkins A, Xu M, Ji W, Konstantino M, Brueckner M, Ment L, Khokha M, Jordan P. SMC5 Plays Independent Roles in Congenital Heart Disease and Neurodevelopmental Disability. International Journal Of Molecular Sciences 2023, 25: 430. PMID: 38203602, PMCID: PMC10779392, DOI: 10.3390/ijms25010430.Peer-Reviewed Original ResearchCFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability
Deniz E, Pasha M, Guerra M, Viviano S, Ji W, Konstantino M, Jeffries L, Lakhani S, Medne L, Skraban C, Krantz I, Khokha M. CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability. Developmental Biology 2023, 499: 75-88. PMID: 37172641, PMCID: PMC10373286, DOI: 10.1016/j.ydbio.2023.04.006.Peer-Reviewed Original ResearchConceptsLeft-right organizerCilia stabilityLeft-right patterningCongenital heart disease genesApical surfaceCell apical surfaceLive confocal imagingLeftward fluid flowHeart disease genesRecessive missense mutationLethal birth defectMotile monociliaProtein familyEarly embryogenesisMulticiliated cellsCiliary axonemeDisease genesFrog embryosGenetic underpinningsWhole-exome sequencingMissense mutationsConfocal imagingEmbryosCiliaCongenital heart disease
2022
A retrospective cohort analysis of the Yale pediatric genomics discovery program
Al‐Ali S, Jeffries L, Faustino EVS, Ji W, Mis E, Konstantino M, Zerillo C, Jiang Y, Spencer‐Manzon M, Bale A, Zhang H, McGlynn J, McGrath JM, Tremblay T, Brodsky NN, Lucas CL, Pierce R, Deniz E, Khokha MK, Lakhani SA. A retrospective cohort analysis of the Yale pediatric genomics discovery program. American Journal Of Medical Genetics Part A 2022, 188: 2869-2878. PMID: 35899841, PMCID: PMC9474639, DOI: 10.1002/ajmg.a.62918.Peer-Reviewed Original ResearchConceptsRetrospective cohort analysisNext-generation sequencingCohort analysisSystem abnormalitiesImmune system abnormalitiesCardiovascular system abnormalitiesFunctional molecular analysesNovel genesPrecise molecular diagnosisClinical characteristicsFurther genetic evaluationDiscovery programsComplex patientsMultisystem diseaseDisease genesPediatric providersRare genetic diseaseNew diagnosisPhenotype relationshipsPatientsGenetic diseasesMolecular analysisDiagnosisParticipant demographicsNGS results
2021
Expansion of NEUROD2 phenotypes to include developmental delay without seizures
Mis EK, Sega AG, Signer RH, Cartwright T, Ji W, Martinez‐Agosto J, Nelson SF, Palmer CGS, Lee H, Mitzelfelt T, Konstantino M, Network U, Jeffries L, Khokha MK, Marco E, Martin MG, Lakhani SA. Expansion of NEUROD2 phenotypes to include developmental delay without seizures. American Journal Of Medical Genetics Part A 2021, 185: 1076-1080. PMID: 33438828, PMCID: PMC8212414, DOI: 10.1002/ajmg.a.62064.Peer-Reviewed Original ResearchConceptsDevelopmental delayEarly-onset seizuresDe novo heterozygous variantsNovo heterozygous variantsDifferentiation factor 2Xenopus laevis tadpolesHeterozygous variantsSeizuresNeuronal differentiationParental studiesFunctional testingMissense variantsPatient variantsFunctional evidenceFactor 2Vivo assaysLaevis tadpolesVariant pathogenicityFunction effectsAdolescentsVariantsUncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2)
Brooks JP, Rice AJ, Ji W, Lanahan SM, Konstantino M, Dara J, Hershfield MS, Cruickshank A, Dokmeci E, Lakhani S, Lucas CL. Uncontrolled Epstein-Barr Virus as an Atypical Presentation of Deficiency in ADA2 (DADA2). Journal Of Clinical Immunology 2021, 41: 680-683. PMID: 33394316, DOI: 10.1007/s10875-020-00940-1.Peer-Reviewed Original ResearchAdenosine DeaminaseAntiviral AgentsBiomarkersBiopsyChildDisease ManagementDisease SusceptibilityDNA Mutational AnalysisEpstein-Barr Virus InfectionsExome SequencingFemaleHematopoietic Stem Cell TransplantationHumansIntercellular Signaling Peptides and ProteinsSevere Combined ImmunodeficiencySiblingsSymptom AssessmentTomography, X-Ray ComputedTreatment Outcome
2020
The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence
Mis EK, Al‐Ali S, Ji W, Spencer‐Manzon M, Konstantino M, Khokha MK, Jeffries L, Lakhani SA. The latest FADS: Functional analysis of GLDN patient variants and classification of GLDN‐associated AMC as a type of viable fetal akinesia deformation sequence. American Journal Of Medical Genetics Part A 2020, 182: 2291-2296. PMID: 32812332, DOI: 10.1002/ajmg.a.61783.Peer-Reviewed Original ResearchConceptsFetal akinesia deformation sequenceArthrogryposis multiplex congenitaCohort of patientsScope of illnessPulmonary hypoplasiaAdditional patientsClinical featuresNeonatal supportNervous system developmentMultiplex congenitaCongenital contracturesPatientsHeterogenous conditionRecessive variantsPatient variantsFunctional evidenceCohortNovel variantsContractureFunctional dataSyndromeHypoplasiaIllnessVariantsFindingsDLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes
Marquez J, Mann N, Arana K, Deniz E, Ji W, Konstantino M, Mis EK, Deshpande C, Jeffries L, McGlynn J, Hugo H, Widmeier E, Konrad M, Tasic V, Morotti R, Baptista J, Ellard S, Lakhani SA, Hildebrandt F, Khokha MK. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. Journal Of Medical Genetics 2020, 58: 453-464. PMID: 32631816, PMCID: PMC7785698, DOI: 10.1136/jmedgenet-2019-106805.Peer-Reviewed Original ResearchConceptsLoss of ciliaPatient tissuesPatient variantsCongenital heart diseaseMultiple organ systemsMultiple congenital anomaliesDLG5 variantsVariety of pathologiesNephrotic syndromeHeart diseaseCongenital anomaliesRespiratory tractKidney tissueOrgan systemsCystic kidneysPatient phenotypesKidneyDiseaseLimb abnormalitiesUnrelated familiesRescue experimentsCraniofacial malformationsCilia dysfunctionTissue-specific manifestationsTissueNovel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome
Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome. Human Molecular Genetics 2020, 29: 1900-1921. PMID: 32196547, PMCID: PMC7372553, DOI: 10.1093/hmg/ddaa050.Peer-Reviewed Original ResearchConceptsCell-cell junctionsNovel protein-truncating variantsP120-catenin proteinProtein-truncating variantsNext-generation sequencingTranscriptional signalingP120-cateninCRISPR/Epithelial-mesenchymal transitionSubset of phenotypesDevelopmental roleLimb dysmorphologiesAdditional phenotypesHuman diseasesCTNND1Conditional deletionDe novoTruncating mutationsBlepharocheilodontic syndromeEpithelial integrityNovel truncating mutationCraniofacial dysmorphismPhenotypeCleft palateNeurodevelopmental disorders
2019
Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report
Sandokji I, Marquez J, Ji W, Zerillo CA, Konstantino M, Lakhani SA, Khokha MK, Warejko JK. Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report. BMC Nephrology 2019, 20: 271. PMID: 31315584, PMCID: PMC6637548, DOI: 10.1186/s12882-019-1458-z.Peer-Reviewed Case Reports and Technical NotesSiblings 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 ResearchA Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type I Crigler-Najjar Syndrome
Elfar W, Järvinen E, Ji W, Mosorin J, Sega AG, Iuga AC, Lobritto SJ, Konstantino M, Chan A, Finel M, Lakhani SA. A Novel Pathogenic UGT1A1 Variant in a Sudanese Child with Type I Crigler-Najjar Syndrome. Drug Metabolism And Disposition 2018, 47: dmd.118.084368. PMID: 30385458, DOI: 10.1124/dmd.118.084368.Peer-Reviewed Original ResearchConceptsUridine diphosphate glucuronosyltransferasesCrigler-Najjar syndromeSudanese childrenType I Crigler-Najjar syndromeSevere unconjugated hyperbilirubinemiaNovel homozygous variantClinical genetic testingAutosomal recessive disorderLiver transplantationClinical featuresPatient ethnicityHepatic enzymesUnconjugated hyperbilirubinemiaGlucuronidation activityGenetic testingBody's abilityHomozygous variantBilirubin conjugationRecessive disorderPatient variantsUGT1A1 variantsDisease phenotypeSanger sequencingUGT functionSyndromeDe novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy
Sega AG, Mis EK, Lindstrom K, Mercimek-Andrews S, Ji W, Cho MT, Juusola J, Konstantino M, Jeffries L, Khokha MK, Lakhani SA. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. Journal Of Medical Genetics 2018, 56: 113. PMID: 30323019, DOI: 10.1136/jmedgenet-2018-105322.Peer-Reviewed Original ResearchConceptsEarly infantile epileptic encephalopathyInfantile epileptic encephalopathyEpileptic encephalopathyPatient variantsDe novo pathogenic variantsNovel de novo variantNovo pathogenic variantsEarly-onset refractory seizuresDifferentiation factor 2Whole-exome sequencingNeuronal differentiation factorRefractory seizuresSignificant developmental delaySpontaneous seizuresUnderlying etiologyEctopic neuronsDe novo variantsPatient's conditionEncephalopathyPathogenic variantsSevere disordersDevelopmental delayUnrelated childrenExome sequencingGene mutationsTwo siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases
Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. European Journal Of Medical Genetics 2018, 62: 103551. PMID: 30300710, DOI: 10.1016/j.ejmg.2018.10.003.Peer-Reviewed Original ResearchConceptsKLHL7 mutationsCrisponi syndromeSyndrome type 1Novel nonsense variantBohring-Opitz syndromeNovel multisystem diseaseNovel homozygous nonsense mutationMultiple dysmorphic featuresClinical featuresClinical findingsMultisystem diseaseLike presentationHomozygous nonsense mutationType 1Dysmorphic featuresDevelopmental delaySyndromeFurther delineationNonsense variantClinical traitsPatientsMember 7DiseaseDisease-associated variantsSiblingsOutcome 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
A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history
Jeffries L, Shima H, Ji W, Panisello‐Manterola D, McGrath J, Bird LM, Konstantino M, Narumi S, Lakhani S. A novel SAMD9 mutation causing MIRAGE syndrome: An expansion and review of phenotype, dysmorphology, and natural history. American Journal Of Medical Genetics Part A 2017, 176: 415-420. PMID: 29266745, DOI: 10.1002/ajmg.a.38557.Peer-Reviewed Original ResearchConceptsConstellation of symptomsAdditional clinical featuresNovel de novo variantReview of phenotypesSAMD9 mutationsAdrenal insufficiencyMultidisciplinary managementAdditional patientsClinical featuresPatient's courseSpecialist careMIRAGE syndromeDe novo variantsEarly diagnosisHigh riskPatientsTreatment planGermline gainNatural historyFunction variantsGenital phenotypeNovo variantsRestriction of growthSyndromeAmino acid variantsMarkers 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