2024
Efficacy of Oral Cinacalcet in Non-PTH Nonmalignant Hypercalcemia from Excess 1,25-Dihydroxyvitamin D
Mohan S, Sheehan M, Tebben P, Wermers R. Efficacy of Oral Cinacalcet in Non-PTH Nonmalignant Hypercalcemia from Excess 1,25-Dihydroxyvitamin D. JCEM Case Reports 2024, 2: luae022. PMID: 38476635, PMCID: PMC10928506, DOI: 10.1210/jcemcr/luae022.Peer-Reviewed Original ResearchLow PTHTherapeutic optionsCalcium levelsNormalization of calcium levelsElevated serum calcium levelsSerum calcium levelsMechanism(s) of actionOral cinacalcetSymptomatic hypocalcemiaCinacalcet doseRecurrent nephrolithiasisUrine calciumRare causeGranulomatous diseaseCinacalcetHypercalcemiaFollow-upSymptomatic benefitGenetic testingBiallelic variantsGenetic mutationsMechanism(s)Mild decreasePTHMalignancy
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
2022
Pediatric primary hyperparathyroidism: Surgical pathology and long-term outcomes in sporadic and familial cases
Szabo Yamashita T, Gudmundsdottir H, Foster T, Lyden M, Dy B, Tebben P, McKenzie T. Pediatric primary hyperparathyroidism: Surgical pathology and long-term outcomes in sporadic and familial cases. The American Journal Of Surgery 2022, 225: 699-702. PMID: 36270819, DOI: 10.1016/j.amjsurg.2022.10.018.Peer-Reviewed Original ResearchConceptsPrimary hyperparathyroidismFamilial casesSingle-center retrospective reviewSporadic casesTime to recurrenceSingle gland diseaseRate of recurrenceLong-term outcomesApparent sporadic casesSporadic groupRetrospective reviewSurgical outcomesMEN-1Pediatric patientsGland diseaseFamilial syndromesSurgical pathologyFollow-upGenetic testingPatientsRecurrenceFamily cohortSyndromeMonthsOutcomes
2018
Blau Syndrome: An Unusual Cause of Hypercalcemia in a Child
Lo H, Muskardin T, Tebben P. Blau Syndrome: An Unusual Cause of Hypercalcemia in a Child. AACE Clinical Case Reports 2018, 4: e278-e281. DOI: 10.4158/accr-2017-0041.Peer-Reviewed Original ResearchVitamin D-mediated hypercalcemiaBlau syndromeDiagnosis of Blau syndromeCause of hypercalcemiaResponse to therapyGranulomatous inflammatory diseaseSurgically treated Graves' diseaseAngiotensin-converting enzyme concentrationNegative fungalMethods ClinicalGranulomatous disorderGraves' diseaseSerum calciumParathyroid hormoneEye diseaseUnusual causeHypercalcemiaNOD2 geneGenetic testingInflammatory diseasesTuberculosis testingInflammatory jointsSyndromeGenetic findingsJoint effusion
2013
Clinical spectrum of hypophosphatasia diagnosed in adults
Berkseth K, Tebben P, Drake M, Hefferan T, Jewison D, Wermers R. Clinical spectrum of hypophosphatasia diagnosed in adults. Bone 2013, 54: 21-27. PMID: 23352924, DOI: 10.1016/j.bone.2013.01.024.Peer-Reviewed Original ResearchConceptsMusculoskeletal painAbsence of genetic testingUrine phosphoethanolamineHistory of fractureAdult hypophosphatasiaHip/femoral neckClinical manifestationsClinical spectrum of hypophosphatasiaSubtrochanteric femur fracturesIncident fracturesLow serum alkaline phosphataseDiagnostic codesIliac crest bone biopsiesAlkaline phosphataseFracture patientsFamily historyConsistent with osteomalaciaEvidence of osteomalaciaInclusion criteriaGenetic testingFemur fracturesMedical recordsSerum alkaline phosphataseSymptomatic subjectsRadiographic chondrocalcinosis