Featured Publications
Proteomic profiling demonstrates inflammatory and endotheliopathy signatures associated with impaired cardiopulmonary exercise hemodynamic profile in Post Acute Sequelae of SARS‐CoV‐2 infection (PASC) syndrome
Singh I, Leitner B, Wang Y, Zhang H, Joseph P, Lutchmansingh D, Gulati M, Possick J, Damsky W, Hwa J, Heerdt P, Chun H. Proteomic profiling demonstrates inflammatory and endotheliopathy signatures associated with impaired cardiopulmonary exercise hemodynamic profile in Post Acute Sequelae of SARS‐CoV‐2 infection (PASC) syndrome. Pulmonary Circulation 2023, 13: e12220. PMID: 37091121, PMCID: PMC10113513, DOI: 10.1002/pul2.12220.Peer-Reviewed Original ResearchInvasive cardiopulmonary exercise testPASC patientsPost-acute sequelaeAcute sequelaeInfection syndromeUnexplained exertional intoleranceCardiopulmonary exercise testSystemic oxygen deliveryPersistent inflammatory stateVenous blood plasmaExertional intolerancePeak exerciseEndothelial dysfunctionHemodynamic profileInflammatory stateExercise testFibrotic processPathophysiological hallmarkAberrant protein expressionExpression of proteinsOxygen deliveryOxygen extractionProteomic profilingPatientsPhysiologic responses
2021
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Manoli I, Pass A, Harrington E, Sloan J, Gagné J, McCoy S, Bell S, Hattenbach J, Leitner B, Duckworth C, Fletcher L, Cassimatis T, Galarreta C, Thurm A, Snow J, Van Ryzin C, Ferry S, Mew N, Shchelochkov O, Chen K, Venditti C. 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA). Genetics In Medicine 2021, 23: 1522-1533. PMID: 33820958, PMCID: PMC8354855, DOI: 10.1038/s41436-021-01143-8.Peer-Reviewed Original ResearchConceptsMethylmalonic acidemiaTransplant recipientsBreath testingSerum methylmalonic acid concentrationsLiver transplant recipientsLiver-directed therapiesBone mineral densityNatural history protocolMethylmalonic acid concentrationsOxidative capacityEnteral bolusRenal functionClinical outcomesCognitive test resultsSerum biomarkersMineral densityClinical studiesTherapeutic effectBreath testHealthy volunteersSurrogate endpointsDisease severityRelated disordersGenomic therapyPatients