2022
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients
Miyake C, Lay E, Soler-Alfonso C, Glinton K, Houck K, Tosur M, Moran N, Stephens S, Scaglia F, Howard T, Kim J, Pham T, Valdes S, Li N, Murali C, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson C, Kannankeril P, Baxter S, Singer-Berk M, Wood J, Mackenzie S, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris S, Ehsan S, Azamian M, Lalani S. Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients. Genetics In Medicine 2022, 25: 100352. PMID: 36473599, PMCID: PMC10306319, DOI: 10.1016/j.gim.2022.11.020.Peer-Reviewed Original ResearchConceptsMetabolic crisisNatural historyCardiac crisisDeficiency disordersOngoing natural history studyMedical record reviewNatural history studiesAutosomal recessive diseaseMedian ageMultivitamin supplementationRecord reviewIntermittent ataxiaNeurodevelopmental delayEarly infancyPatientsBaseline assessmentSpeech difficultiesB complexDevelopmental milestonesRecessive diseaseParent interviewsUnrelated familiesAtaxiaHistory studiesProgressive delay
2020
Neonatal Cardiac Emergencies: A Multidisciplinary Simulation Curriculum for Neonatology and Pediatric Cardiology Fellows
Simmons MA, Otero-Luna A, Redmond B, Fahey J, Beach C, Bruno C, Johnston L. Neonatal Cardiac Emergencies: A Multidisciplinary Simulation Curriculum for Neonatology and Pediatric Cardiology Fellows. MedEdPORTAL 2020, 16: 11045. PMID: 33365389, PMCID: PMC7751327, DOI: 10.15766/mep_2374-8265.11045.Peer-Reviewed Original ResearchConceptsCardiac diseaseMean overall satisfaction scoreNeonatal cardiac emergencyManagement of neonatesCongenital heart diseaseRemote consultationsPediatric cardiology fellowsOverall satisfaction scoreCardiac concernsCardiogenic shockMultidisciplinary managementUnstable arrhythmiasBedside evaluationPediatric cardiologistsCardiac careHeart diseaseCardiac emergenciesPediatric cardiologyClinical decisionSatisfaction scoresCyanosisNeonatesSimulation curriculumCardiology fellowsDisease