2023
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)
Pinto e Vairo F, Kemppainen J, Vitek C, Whalen D, Kolbert K, Sikkink K, Kroc S, Kruisselbrink T, Shupe G, Knudson A, Burke E, Loftus E, Bandel L, Prochnow C, Mulvihill L, Thomas B, Gable D, Graddy C, Garzon G, Ekpoh I, Porquera E, Fervenza F, Hogan M, El Ters M, Warrington K, Davis J, Koster M, Orandi A, Basiaga M, Vella A, Kumar S, Creo A, Lteif A, Pittock S, Tebben P, Abate E, Joshi A, Ristagno E, Patnaik M, Schimmenti L, Dhamija R, Sabrowsky S, Wierenga K, Keddis M, Samadder N, Presutti R, Robinson S, Stephens M, Roberts L, Faubion W, Driscoll S, Wong-Kisiel L, Selcen D, Flanagan E, Ramanan V, Jackson L, Mauermann M, Ortega V, Anderson S, Aoudia S, Klee E, McAllister T, Lazaridis K. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). Journal Of Translational Medicine 2023, 21: 410. PMID: 37353797, PMCID: PMC10288779, DOI: 10.1186/s12967-023-04183-7.Peer-Reviewed Original ResearchConceptsMayo Clinic programGenetic counselorsGenetic testingImplementation of genomic medicineSubspecialty practiceGenetic counseling assistantsClinical programsUndiagnosed diseaseClinical service modelGenetic test resultsTertiary healthcare systemGenetic nursesMedical managementMulti-gene panelHealthcare providersSubspecialty providersTargeted genetic testingMedical geneticistsHealthcare systemImprove accessGenomic medicineProgram expansionGenetic counselingRare diseaseTest facilitator
2020
Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study
Hawkes C, Roy S, Dekelbab B, Frazier B, Grover M, Haidet J, Listman J, Madsen S, Roan M, Rodd C, Sopher A, Tebben P, Levine M. Hypercalcemia in Children Using the Ketogenic Diet: A Multicenter Study. The Journal Of Clinical Endocrinology & Metabolism 2020, 106: e485-e495. PMID: 33124662, PMCID: PMC7823241, DOI: 10.1210/clinem/dgaa759.Peer-Reviewed Original ResearchConceptsAcute hypercalcemiaKetogenic dietLevels of 1,25-dihydroxyvitamin DLow levels of parathyroid hormoneLevels of parathyroid hormoneLow alkaline phosphatase levelMulticenter case seriesImpaired renal functionCohort of patientsResolution of hypercalcemiaReduced osteoblast activityResponse to treatmentAlkaline phosphatase levelsImpaired bone formationRenal impairmentClinical presentationRenal functionParathyroid hormoneCase seriesMulticenter studyClinical characteristicsBone healthHypercalcemiaSkeletal demineralizationFollow-up
2019
Patterns of amiodarone-induced thyroid dysfunction in infants and children
Creo A, Anderson H, Cannon B, Lteif A, Kumar S, Tebben P, Iqbal A, Ramakrishna A, Pittock S. Patterns of amiodarone-induced thyroid dysfunction in infants and children. Heart Rhythm 2019, 16: 1436-1442. PMID: 30904484, DOI: 10.1016/j.hrthm.2019.03.015.Peer-Reviewed Original ResearchConceptsAmiodarone-induced thyroid dysfunctionThyroid function testsThyroid-stimulating hormoneThyroid dysfunctionPediatric patientsTSH valuesThyroid-stimulating hormone elevationHeart Rhythm Society guidelinesThyroid-stimulating hormone valuesDegree of TSH elevationPeak TSH valueBrain developmentOptimal screening frequencyType of heart diseaseLong-term groupAmiodarone therapyTSH elevationInotropic supportUntreated hypothyroidismHypothyroid childrenAmiodarone initiationRetrospective cohortSociety guidelinesAmiodaroneYoung children