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 methylationThree Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant
Gupta N, Gregory S, Deyle D, Tebben P. Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant. Journal Of Clinical Research In Pediatric Endocrinology 2021, 0: 0-0. PMID: 32519829, PMCID: PMC8186326, DOI: 10.4274/jcrpe.galenos.2020.2020.0012.Peer-Reviewed Original ResearchConceptsNontraumatic fracturesOsteogenesis imperfectaBisphosphonate therapyPhenotype of OIExtra-skeletal manifestationsIntravenous bisphosphonate therapyProgressive bone deformitiesBone deformitiesLong bone fracturesCOL1A1 variantMonth of birthPatient 2Fracture ratesPatient's kindredBone fracturesPatientsAffected membersUnique phenotypeMonthsTherapyImperfectaKindredVariant databasesPhenotypeAge
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-upCongenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD
Muthusamy K, Macke E, Klee E, Tebben P, Hand J, Hasadsri L, Marcou C, Schimmenti L. Congenital ichthyosis in Prader–Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPD. American Journal Of Medical Genetics Part A 2020, 182: 2442-2449. PMID: 32815268, DOI: 10.1002/ajmg.a.61792.Peer-Reviewed Case Reports and Technical NotesMeSH KeywordsAdolescentAdultAngelman SyndromeChildChild, PreschoolChromosomes, Human, Pair 15Congenital AbnormalitiesFemaleGenes, RecessiveGenomic ImprintingHumansIchthyosisIn Situ Hybridization, FluorescenceInfantInfant, NewbornMaternal InheritancePrader-Willi SyndromeSphingosine N-AcyltransferaseUniparental DisomyYoung AdultConceptsPrader-Willi syndromeAutosomal recessive congenital ichthyosisAutosomal recessive conditionPrader-Willi syndrome/Angelman syndromeCeramide synthase 3Congenital ichthyosisUniparental disomyPathogenic variantsPaternal 15q11-q13 deletionComplex chromosomal rearrangementsCase of autosomal recessive congenital ichthyosisNovel pathogenic variantsDiagnosis of Prader-Willi syndromeRecessive conditionRecessive inherited diseaseAutosomal recessive inherited diseaseChromosomal rearrangementsGenetic mechanismsImprinting defectsMaternal UPD15Prader-WilliClinical courseUPD15Case reportClinical phenotypeLong-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation
Eswarakumar AS, S. N, Ward LM, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Imel EA, Gagne J, Cody D, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth RS, Gordon R, Casey L, Carpenter TO. Long-Term Follow-up of Hypophosphatemic Bone Disease Associated With Elemental Formula Use: Sustained Correction of Bone Disease After Formula Change or Phosphate Supplementation. Clinical Pediatrics 2020, 59: 1080-1085. PMID: 32666808, DOI: 10.1177/0009922820941097.Peer-Reviewed Original ResearchConceptsElemental formula useBone diseaseFormula useHypophosphatemic bone diseaseTerm Follow-upLong-term outcomesSerum phosphorus concentrationSerum alkaline phosphatase activitySerum alkaline phosphataseSeverity/durationTime of correctionChart reviewSerum phosphorusDisease AssociatedFollow-upPhosphate supplementationExtent of recoveryDiseaseDiagnosisFormula changesRadiology reportsSupplementationAlkaline phosphataseAlkaline phosphatase activityReport
2019
Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic
Wadams H, Gupta N, Novotny P, Tebben P. Onset of pituitary hormone deficiencies in optic nerve hypoplasia: a temporal trend analysis of 32 children at Mayo Clinic. Journal Of Pediatric Endocrinology And Metabolism 2019, 33: 139-145. PMID: 31811804, DOI: 10.1515/jpem-2019-0269.Peer-Reviewed Original ResearchConceptsOptic nerve hypoplasiaPituitary hormone deficiencyThyroid-stimulating hormoneMagnetic resonance imagingMidline abnormalitiesAdrenocorticotropic hormoneHormone deficiencyAntidiuretic hormoneDiagnosis of optic nerve hypoplasiaPresence of optic nerve hypoplasiaRetrospective chart review of patientsThyroid-stimulating hormone deficiencyGrowth hormoneChart review of patientsDiagnosis of GHPituitary hormone functionReview of patientsRetrospective chart reviewYears of ageAge 3 yearsMonths of ageNeonatal periodMedian ageFollow-upMayo ClinicRickets 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
2018
Prevalence of Metabolic Bone Disease in Tube-Fed Children Receiving Elemental Formula
Creo A, Epp L, Buchholtz J, Tebben P. Prevalence of Metabolic Bone Disease in Tube-Fed Children Receiving Elemental Formula. Hormone Research In Paediatrics 2018, 90: 291-298. PMID: 30497080, DOI: 10.1159/000494726.Peer-Reviewed Original ResearchConceptsMetabolic bone diseasePrevalence of metabolic bone diseaseEvidence of bone diseaseRadiographic evidence of bone diseaseSemi-elemental formulaBone diseaseRadiographic evidenceTube-fed childrenAmino acid-based formulaRetrospective cohortInstitutional databaseRadiographic abnormalitiesReview periodMulticenter surveyElemental formulaNeocateSuspected casesEstimated prevalence
2017
Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children
Ballesteros L, S. N, Gordon RJ, Ward L, Backeljauw P, Wasserman H, Weber DR, DiMeglio LA, Gagne J, Stein R, Cody D, Simmons K, Zimakas P, Topor LS, Agrawal S, Calabria A, Tebben P, Faircloth R, Imel EA, Casey L, Carpenter TO. Unexpected widespread hypophosphatemia and bone disease associated with elemental formula use in infants and children. Bone 2017, 97: 287-292. PMID: 28167344, PMCID: PMC5884631, DOI: 10.1016/j.bone.2017.02.003.Peer-Reviewed Original ResearchMeSH KeywordsAlkaline PhosphataseBone DiseasesCalciumChildChild, PreschoolFemaleHumansHypophosphatemiaInfantInfant FormulaMalePhosphorusRicketsConceptsElemental formula useFormula useSkeletal diseaseRetrospective chart reviewInadequate dietary intakeCertain clinical settingsFormula productsEffect of treatmentSevere malabsorptionChart reviewSevere hypocalcemiaClinical featuresClinical profileRenal excretionDietary intakeCommon findingMineral metabolismBone diseaseHypophosphatemiaPhosphate supplementationSkeletal radiographsCareful monitoringComplex illnessRenal conservationClinical setting
2016
Bone Pain in a 4-year-old Boy with Chronic Granulomatous Disease and History of Aspergillus pneumonia
Uzodi A, Tebben P, Boyce T. Bone Pain in a 4-year-old Boy with Chronic Granulomatous Disease and History of Aspergillus pneumonia. The Pediatric Infectious Disease Journal 2016, 35: 464-465. PMID: 26967683, DOI: 10.1097/inf.0000000000001042.Peer-Reviewed Case Reports and Technical Notes
2013
Increasing Incidence of Nutritional Rickets: A Population-Based Study in Olmsted County, Minnesota
Thacher T, Fischer P, Tebben P, Singh R, S. S, Maxson J, Yawn B. Increasing Incidence of Nutritional Rickets: A Population-Based Study in Olmsted County, Minnesota. Mayo Clinic Proceedings 2013, 88: 176-183. PMID: 23374621, PMCID: PMC3612965, DOI: 10.1016/j.mayocp.2012.10.018.Peer-Reviewed Original ResearchConceptsDiagnostic codesRadiographic evidence of ricketsOlmsted County, MinnesotaRochester Epidemiology Project dataAssociated with black raceCommunity-based populationRisk factorsVitamin D deficiencyPopulation-based studyNutritional ricketsEvidence of ricketsIncidence of nutritional ricketsRecord abstractionEvaluation of risk factorsNonwhite race/ethnicityLeg painD deficiencyOlmsted CountyOutcome measuresIncidence rateRadiographic evidenceLow birth weightAge- and sex-matched controlsGenu varumBlack race
2010
Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome
Kirmani S, Tebben P, Lteif A, Gordon D, Clarke B, Hefferan T, Yaszemski M, McGrann P, Lindor N, Ellison J. Germline TGF‐β receptor mutations and skeletal fragility: A report on two patients with Loeys–Dietz syndrome. American Journal Of Medical Genetics Part A 2010, 152A: 1016-1019. PMID: 20358619, DOI: 10.1002/ajmg.a.33356.Peer-Reviewed Case Reports and Technical NotesConceptsLow bone mineral densityBone mineral densityMarfan syndromeSkeletal fragilitySurgical repairMineral densityTalipes equinovarusEhlers-Danlos syndrome type IVFamilial aortic aneurysmsAortic root dilatationSubmucous cleft palateLoeys-Dietz syndromeRoot dilatationCleft palateFragility fracturesSignificant skeletal deformityHeterozygous mutationsReceptor mutationsPectus excavatumVascular fragilityEDS-IVInguinal herniaAortic aneurysmAscending aortaVascular complications