2021
Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions
Kiuchi Z, Reyes M, Hanna P, Sharma A, DeClue T, Olney R, Tebben P, Jüppner H. Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions. The Journal Of Clinical Endocrinology & Metabolism 2021, 107: e681-e687. PMID: 34477200, PMCID: PMC8899049, DOI: 10.1210/clinem/dgab660.Peer-Reviewed Original ResearchConceptsAutosomal dominant pseudohypoparathyroidism type IbSTX16 deletionPseudohypoparathyroidism type IbParathyroid hormoneYears of ageAD-PHP1BDisease-causing variantsFemale carriersMeasurement of parathyroid hormoneGNAS exon A/BPretreatment laboratory resultsElevated PTH levelsParathyroid hormone resistanceParathyroid hormone levelsSerum calcium levelsThyrotropin (TSHType IbExon A/BOvert hypocalcemiaPTH resistancePTH levelsTSH levelsCalcium abnormalitiesPrompt treatmentLoss of methylation
2020
Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study
Qureshi M, Patterson M, Clark V, Johnson J, Moutvic M, Driscoll S, Kemppainen J, Huston J, Anderson J, Badley A, Tebben P, Wackel P, Oglesbee D, Glockner J, Schreiner G, Dugar S, Touchette J, Gavrilova R. Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study. Journal Of Inherited Metabolic Disease 2020, 44: 502-514. PMID: 32677106, DOI: 10.1002/jimd.12285.Peer-Reviewed Original ResearchConceptsCardiac magnetic resonance imagingMagnetic resonance imagingOpen-labelCardiac endpointsLeft ventricular (LV) structureFriedreich Ataxia Rating ScaleImprovement of cardiac functionLV mass indexSingle-center trialFriedreich's ataxiaCompared to baselineAtaxia Rating ScaleNonstatistically significant improvementPhase IIFA diagnosisStatistically significant improvementNeurological outcomeSignificant improvementPediatric subjectsAdverse eventsProspective studyCardiac functionHeart failureCardiac structureEvaluate safety
2019
Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score
Thacher TD, Pettifor JM, Tebben PJ, Creo AL, Skrinar A, Mao M, Chen CY, Chang T, San Martin J, Carpenter TO. Rickets severity predicts clinical outcomes in children with X-linked hypophosphatemia: Utility of the radiographic Rickets Severity Score. Bone 2019, 122: 76-81. PMID: 30772600, DOI: 10.1016/j.bone.2019.02.010.Peer-Reviewed Original ResearchConceptsRickets Severity ScoreSerum alkaline phosphataseSeverity scoreSevere self-reported painPediatric Outcomes Data Collection InstrumentPhase 2 clinical trialAlkaline phosphataseLess physical functionSelf-reported painSevere clinical featuresHeight z-scoreRadiographic Global ImpressionPediatric Orthopaedic SocietyIntra-rater reliabilitySubstantial inter-rater reliabilityClinical featuresClinical outcomesBilateral kneesGlobal ImpressionPhysical functionSubstantial intra-rater reliabilityWeek 64Clinical trialsBurosumab treatmentFunctional impairment
2006
Oncogenic Osteomalacia: Localization of Underlying Peripheral Mesenchymal Tumors with Use of Tc 99m Sestamibi Scintigraphy
Hodgson S, Clarke B, Tebben P, Mullan B, Cooney W, Shives T. Oncogenic Osteomalacia: Localization of Underlying Peripheral Mesenchymal Tumors with Use of Tc 99m Sestamibi Scintigraphy. Endocrine Practice 2006, 12: 35-42. PMID: 16524861, DOI: 10.4158/ep.12.1.35.Peer-Reviewed Original ResearchConceptsTc-99m sestamibi scanM sestamibi scanMesenchymal tumorsTc-99m sestamibi scintigraphyM sestamibi scintigraphyCost-effective initial strategyOncogenic osteomalaciaTherapeutic failureComplete resolutionCase reportD concentrationsNeoplasmsTumorTissue compartmentsOsteomalaciaAlternative localization technique
2004
Fibroblast Growth Factor 23, Parathyroid Hormone, and 1α,25-Dihydroxyvitamin D in Surgically Treated Primary Hyperparathyroidism
Tebben P, Singh R, Clarke B, Kumar R. Fibroblast Growth Factor 23, Parathyroid Hormone, and 1α,25-Dihydroxyvitamin D in Surgically Treated Primary Hyperparathyroidism. Mayo Clinic Proceedings 2004, 79: 1508-1513. PMID: 15595334, DOI: 10.4065/79.12.1508.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedBiomarkersDihydroxycholecalciferolsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsFollow-Up StudiesHumansHyperparathyroidismMaleMiddle AgedParathyroid GlandsParathyroid HormoneParathyroidectomyPostoperative CarePreoperative CareProbabilityProspective StudiesSampling StudiesSensitivity and SpecificitySeverity of Illness IndexStatistics, NonparametricTreatment OutcomeConceptsBone-specific alkaline phosphataseBone-specific alkaline phosphatase concentrationsFibroblast growth factor 23Primary hyperparathyroidismParathyroid hormoneSerum phosphorus concentrationFGF23 concentrationsSerum calciumSurgically treated primary hyperparathyroidismElevated serum calciumLow-normal rangeParathyroid hormone concentrationsAdult patientsPreoperative stateSerum phosphorusPostoperative stateHyperparathyroidismHealthy controlsFibroblast growth factorPatientsFGF23Growth factorSurgerySerumPhosphorus homeostasis