2019
Severity of reduced bone mineral density and risk of fractures in long‐term survivors of childhood leukemia and lymphoma undergoing guideline‐recommended surveillance for bone health
Bloomhardt HM, Sint K, Ross WL, Rotatori J, Ness K, Robinson C, Carpenter TO, Chow EJ, Kadan‐Lottick N. Severity of reduced bone mineral density and risk of fractures in long‐term survivors of childhood leukemia and lymphoma undergoing guideline‐recommended surveillance for bone health. Cancer 2019, 126: 202-210. PMID: 31536650, DOI: 10.1002/cncr.32512.Peer-Reviewed Original ResearchConceptsLow bone mineral densityReduced bone mineral densityBone mineral densityLymphoma survivorsMineral densityLumbar spine BMD Z-scoreChildhood leukemia/lymphomaPatient/treatment factorsSpine BMD Z-scoreDual-energy X-ray absorptiometryGuideline-recommended surveillanceBMD Z-scoresLong-term survivorsRisk of fractureCross-sectional studyLeukemia/lymphomaLong bone fracturesX-ray absorptiometrySurvivorship clinicBone healthMultivariable analysisMean ageChronic conditionsMedical recordsWhite raceContinued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period
Portale AA, Carpenter TO, Brandi ML, Briot K, Cheong HI, Cohen-Solal M, Crowley R, Jan De Beur S, Eastell R, Imanishi Y, Imel EA, Ing S, Ito N, Javaid M, Kamenicky P, Keen R, Kubota T, Lachmann R, Perwad F, Pitukcheewanont P, Ralston SH, Takeuchi Y, Tanaka H, Weber TJ, Yoo HW, Zhang L, Theodore-Oklota C, Mealiffe M, San Martin J, Insogna K. Continued Beneficial Effects of Burosumab in Adults with X-Linked Hypophosphatemia: Results from a 24-Week Treatment Continuation Period After a 24-Week Double-Blind Placebo-Controlled Period. Calcified Tissue International 2019, 105: 271-284. PMID: 31165191, DOI: 10.1007/s00223-019-00568-3.Peer-Reviewed Original ResearchConceptsWeek 48Adverse eventsWeek 24Sustained improvementTreatment-related serious adverse eventsOpen-label treatment periodSafety of burosumabDouble-blind placeboFatal adverse eventsSerious adverse eventsSerum phosphorus levelsPatient-reported outcomesSerum phosphorus concentrationRenal phosphate wastingHuman monoclonal antibodyContinued beneficial effectsHealing of fracturesRare genetic disorderMusculoskeletal morbidityPhysical functionContinuation periodMusculoskeletal impairmentsPhosphate wastingTreatment periodBurosumab
2015
Association between serum 25‐hydroxyvitamin D level and pulmonary exacerbations in cystic fibrosis
Vanstone MB, Egan ME, Zhang JH, Carpenter TO. Association between serum 25‐hydroxyvitamin D level and pulmonary exacerbations in cystic fibrosis. Pediatric Pulmonology 2015, 50: 441-446. PMID: 25657016, DOI: 10.1002/ppul.23161.Peer-Reviewed Original ResearchConceptsPulmonary function testsCystic fibrosisPulmonary exacerbationsPediatric patientsD levelsYale-New Haven HospitalPediatric CF patientsVitamin D sufficiencyRetrospective chart reviewVitamin D statusStrongest independent determinantCF care centersPatients ages 5Logistic regression analysisAnnual numberD sufficiencyD statusChart reviewClinic visitsLung functionPulmonary functionAntibiotic therapyFunction testsHospitalization ratesIndependent determinants
2014
Effect of Paricalcitol on Circulating Parathyroid Hormone in X-Linked Hypophosphatemia: A Randomized, Double-Blind, Placebo-Controlled Study
Carpenter TO, Olear EA, Zhang JH, Ellis BK, Simpson CA, Cheng D, Gundberg CM, Insogna KL. Effect of Paricalcitol on Circulating Parathyroid Hormone in X-Linked Hypophosphatemia: A Randomized, Double-Blind, Placebo-Controlled Study. The Journal Of Clinical Endocrinology & Metabolism 2014, 99: 3103-3111. PMID: 25029424, PMCID: PMC4154090, DOI: 10.1210/jc.2014-2017.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAlkaline PhosphataseBone Density Conservation AgentsChildDouble-Blind MethodErgocalciferolsFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsHumansHyperparathyroidismMaleMiddle AgedParathyroid HormonePhosphorusPlacebosProspective StudiesTreatment OutcomeVitamin DYoung AdultConceptsRenal phosphate thresholdGlomerular filtration rateBone scanSerum phosphorusFiltration rateXLH patientsEffect of paricalcitolUse of paricalcitolPlacebo-treated subjectsElevated PTH levelsSerum calcium levelsSuppression of PTHHospital research unitSerum alkaline phosphatase activityPTH levelsCreatinine levelsSecondary outcomesStandard therapyUrinary calciumPlacebo subjectsParathyroid hormoneSerum calciumAlkaline phosphatase activityD levelsSkeletal improvement
2013
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification
Rafaelsen SH, Ræder H, Fagerheim AK, Knappskog P, Carpenter TO, Johansson S, Bjerknes R. Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23–related hypophosphatemia, dental anomalies, and ectopic calcification. Journal Of Bone And Mineral Research 2013, 28: 1378-1385. PMID: 23325605, DOI: 10.1002/jbmr.1850.Peer-Reviewed Original ResearchConceptsFibroblast growth factor 23Growth factor 23Factor 23Dental anomaliesExome sequencingAbsence of ricketsFAM20C mutationsCompound heterozygous mutationsWhole-exome sequencingIntracerebral calcificationsFGF23 levelsFamilial hypophosphatemiaHypophosphatemic ricketsEctopic calcificationHypophosphatemiaPutative new mechanismsType 1Heterozygous mutationsUndiagnosed probandsLong bonesNorwegian populationCausal roleHuman subjectsSequence similarity 20Rickets
2010
Rapid Correction of Bone Mass after Parathyroidectomy in an Adolescent with Primary Hyperparathyroidism
Vanstone MB, Udelsman RD, Cheng DW, Carpenter TO. Rapid Correction of Bone Mass after Parathyroidectomy in an Adolescent with Primary Hyperparathyroidism. The Journal Of Clinical Endocrinology & Metabolism 2010, 96: e347-e350. PMID: 21106715, DOI: 10.1210/jc.2010-1723.Peer-Reviewed Original ResearchMeSH Keywords25-Hydroxyvitamin D 2Absorptiometry, PhotonAdenomaAdolescentBone and BonesBone DensityHumansHydronephrosisHyperparathyroidism, PrimaryKidneyKidney CalculiLithotripsyMalePainParathyroid NeoplasmsParathyroidectomyRadionuclide ImagingRadiopharmaceuticalsSpineTechnetium Tc 99m SestamibiTrabecular MeshworkUltrasonographyConceptsBone mineral densityPrimary hyperparathyroidismMineral densityElevated parathyroid hormone levelsLarge tertiary care centerDual-energy X-ray absorptiometryBiochemical evaluationEnergy X-ray absorptiometryDual-phase technetiumRight foot painParathyroid hormone levelsTertiary care centerDiagnosis of hyperparathyroidismTime of diagnosisMain outcome measurementsX-ray absorptiometryBone mineral contentFlank painFoot painGross hematuriaRenal ultrasonographyVague symptomatologyMale presentingThyroid bedOsteoporotic fracturesCirculating Levels of Soluble Klotho and FGF23 in X-Linked Hypophosphatemia: Circadian Variance, Effects of Treatment, and Relationship to Parathyroid Status
Carpenter TO, Insogna KL, Zhang JH, Ellis B, Nieman S, Simpson C, Olear E, Gundberg CM. Circulating Levels of Soluble Klotho and FGF23 in X-Linked Hypophosphatemia: Circadian Variance, Effects of Treatment, and Relationship to Parathyroid Status. The Journal Of Clinical Endocrinology & Metabolism 2010, 95: e352-e357. PMID: 20685863, PMCID: PMC2968736, DOI: 10.1210/jc.2010-0589.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAge FactorsAgedBone Density Conservation AgentsCalcitriolChildCircadian RhythmEnzyme-Linked Immunosorbent AssayFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedGlucuronidaseHumansKlotho ProteinsMaleMiddle AgedParathyroid HormonePhosphatesVitamin DConceptsSerum KlothoSerum FGF23Higher klotho levelsHospital research unitRenal phosphate handlingAcademic medical centerEffect of treatmentFibroblast growth factorKlotho levelsPTH secretionMedical therapySoluble KlothoDihydroxyvitamin DFGF23 regulationPhosphate handlingMedical CenterFGF23KlothoXLHCircadian variationGrowth factorPTHAdultsHypophosphatemiaTherapyTreatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 Concentrations
Imel EA, DiMeglio LA, Hui SL, Carpenter TO, Econs MJ. Treatment of X-Linked Hypophosphatemia with Calcitriol and Phosphate Increases Circulating Fibroblast Growth Factor 23 Concentrations. The Journal Of Clinical Endocrinology & Metabolism 2010, 95: 1846-1850. PMID: 20157195, PMCID: PMC2853995, DOI: 10.1210/jc.2009-1671.Peer-Reviewed Original ResearchConceptsFGF23 concentrationsXLH patientsFibroblast growth factor 23 concentrationsGrowth factor 23 concentrationsFibroblast Growth Factor 23 ExpressionComplications of therapyDihydroxyvitamin D concentrationsProspective observational studyTertiary referral centerIntact FGF23 concentrationsRoutine clinical managementOral calcitriolReferral centerClinical managementFGF23 elevationObservational studyTherapeutic effectRenal phosphateCalcitriolD concentrationsDisease severityNormal serumVivo modelTherapyMost subjects
2009
Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice
Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice. Calcified Tissue International 2009, 85: 235-246. PMID: 19609735, PMCID: PMC2988401, DOI: 10.1007/s00223-009-9270-6.Peer-Reviewed Original ResearchMeSH KeywordsAchilles TendonAdolescentAdultAgedAnimalsBiomarkersCalcinosisChildDisease Models, AnimalDisease ProgressionFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedHumansMiceMice, Inbred C57BLMiddle AgedPatellar LigamentPhenotypeQuadriceps MuscleRadiographyRheumatic DiseasesTendinopathyTendonsYoung AdultConceptsFGF-23Fibroblast growth factor receptor 3Hyp miceMajority of patientsHigh circulating levelsPhosphate-regulating hormoneBone spur formationTendon insertion siteGrowth factor receptor 3Insertion siteLigament insertion sitesCirculating LevelsPhosphate excretionBone-forming osteoblastsHeterotopic calcificationOsteophyte formationHistological examinationMurine modelReceptor 3Spur formationHypophosphatemiaEnthesis fibrocartilageBone mineralizationBiochemical milieuMice
2008
Dual Energy X-ray Absorptiometry Interpretation and Reporting in Children and Adolescents: The 2007 ISCD Pediatric Official Positions
Gordon CM, Bachrach LK, Carpenter TO, Crabtree N, Fuleihan G, Kutilek S, Lorenc RS, Tosi LL, Ward KA, Ward LM, Kalkwarf HJ. Dual Energy X-ray Absorptiometry Interpretation and Reporting in Children and Adolescents: The 2007 ISCD Pediatric Official Positions. Journal Of Clinical Densitometry 2008, 11: 43-58. PMID: 18442752, DOI: 10.1016/j.jocd.2007.12.005.Peer-Reviewed Original Research
2007
Evaluation of bone and mineral disorders.
Ardeshirpour L, Cole DE, Carpenter TO. Evaluation of bone and mineral disorders. Pediatric Endocrinology Reviews : PER 2007, 5 Suppl 1: 584-98. PMID: 18167468.Peer-Reviewed Original ResearchConceptsParathyroid hormoneVitamin D homeostasisVitamin D metabolitesEvaluation of boneD homeostasisD metabolitesMineral disordersDiagnostic modalitiesHormonal imbalanceMetabolic diseasesDiagnostic acumenGenetic testingHereditary disorderSkeletal systemHormoneDisordersDiagnostic capabilitiesBoneConcise reviewCalciumWidespread useDiseaseImpairment
2006
A Randomized Controlled Study of Effects of Dietary Magnesium Oxide Supplementation on Bone Mineral Content in Healthy Girls
Carpenter TO, DeLucia MC, Zhang JH, Bejnerowicz G, Tartamella L, Dziura J, Petersen KF, Befroy D, Cohen D. A Randomized Controlled Study of Effects of Dietary Magnesium Oxide Supplementation on Bone Mineral Content in Healthy Girls. The Journal Of Clinical Endocrinology & Metabolism 2006, 91: 4866-4872. PMID: 17018656, PMCID: PMC2995550, DOI: 10.1210/jc.2006-1391.Peer-Reviewed Original ResearchConceptsBone mineral contentHip bone mineral contentDietary Mg intakeMg supplementationBone massMg intakeSpinal bone mineral contentMid-late pubertyOld Caucasian girlDouble-blind trialClinical Research CenterPrimary outcome measureBone mineral densityCommunity pediatricians' officesSerum mineral levelsMagnesium oxide supplementationPill countDietary diariesTotal hipFemoral neckInterventional studyMineral densityHealthy girlsBone markersOutcome measures
2005
SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis
Bergwitz C, Roslin NM, Tieder M, Loredo-Osti JC, Bastepe M, Abu-Zahra H, Frappier D, Burkett K, Carpenter TO, Anderson D, Garabédian M, Sermet I, Fujiwara TM, Morgan K, Tenenhouse HS, Jüppner H. SLC34A3 Mutations in Patients with Hereditary Hypophosphatemic Rickets with Hypercalciuria Predict a Key Role for the Sodium-Phosphate Cotransporter NaPi-IIc in Maintaining Phosphate Homeostasis. American Journal Of Human Genetics 2005, 78: 179-192. PMID: 16358214, PMCID: PMC1380228, DOI: 10.1086/499409.Peer-Reviewed Original ResearchConceptsConsanguineous BedouinFirst membrane-spanning domainMembrane-spanning domainsPhosphate homeostasisRenal sodium-phosphate cotransporterNucleotide sequence analysisDihydroxyvitamin D levelsSingle nucleotide deletionHereditary hypophosphatemic ricketsCompound heterozygous missenseSLC34A3 mutationsHomozygous single nucleotide deletionHypophosphatemic ricketsLinkage scanCandidate genesGenomic DNASodium-phosphate cotransporterSequence analysisD levelsHomozygosity mappingDeletion mutationsGenomewide linkage scanKey roleChromosome 9q34MutationsRelationships among Vitamin D Levels, Parathyroid Hormone, and Calcium Absorption in Young Adolescents
Abrams SA, Griffin IJ, Hawthorne KM, Gunn SK, Gundberg CM, Carpenter TO. Relationships among Vitamin D Levels, Parathyroid Hormone, and Calcium Absorption in Young Adolescents. The Journal Of Clinical Endocrinology & Metabolism 2005, 90: 5576-5581. PMID: 16076940, PMCID: PMC1283091, DOI: 10.1210/jc.2005-1021.Peer-Reviewed Original ResearchConceptsVitamin D statusCalcium absorptionD statusDihydroxyvitamin DVitamin D insufficiencyVitamin D levelsBone mineral densityCalcium absorption fractionYr of ageEffects of prebioticsD insufficiencySerum PTHPTH secretionD calciumParathyroid hormoneD levelsPediatric dataMineral densityMidpubertal boysYoung adolescentsPTHBone formationWhole bodyHigh rateAdolescents
2001
Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets
Holm I, Nelson A, Robinson B, Mason R, Marsh D, Cowell C, Carpenter T. Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets. The Journal Of Clinical Endocrinology & Metabolism 2001, 86: 3889-3899. PMID: 11502829, DOI: 10.1210/jcem.86.8.7761.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAmino Acid SubstitutionBone DiseasesChildDNA Mutational AnalysisExonsFamilyFemaleGenotypeHumansHypophosphatemia, FamilialMaleMiddle AgedMutationMutation, MissenseNuclear FamilyPhenotypePHEX Phosphate Regulating Neutral EndopeptidaseProteinsSequence DeletionTooth DiseasesConceptsHypophosphatemic ricketsRickets patientsHypophosphatemic rickets patientsSevere skeletal diseasePHEX mutationsSeverity of diseaseFamily membersGenotype-phenotype correlationPrognostic valueFamily historyPatientsPostpubertal malesEarly identificationSkeletal diseaseGenetic testingRicketsTruncating mutationsDental phenotypeAffected individualsMild phenotypePHEX geneDiseaseMissense mutationsDifferent mutationsSeverityEctopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets
Moltz K, Friedman A, Nehgme R, Kleinman C, Carpenter T. Ectopic cardiac calcification associated with hyperparathyroidism in a boy with hypophosphatemic rickets. Current Opinion In Pediatrics 2001, 13: 373-375. PMID: 11717565, DOI: 10.1097/00008480-200108000-00015.Peer-Reviewed Original Research
1997
Pseudotumor Cerebri: A Presenting Manifestation of Addison's Disease
Condulis N, Germain G, Charest N, Levy S, Carpenter T. Pseudotumor Cerebri: A Presenting Manifestation of Addison's Disease. Clinical Pediatrics 1997, 36: 711-713. PMID: 9415840, DOI: 10.1177/000992289703601208.Peer-Reviewed Original ResearchCardiovascular Abnormalities in Patients with X-Linked Hypophosphatemia
Nehgme R, Fahey J, Smith C, Carpenter T. Cardiovascular Abnormalities in Patients with X-Linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 1997, 82: 2450-2454. PMID: 9253316, DOI: 10.1210/jcem.82.8.4181.Peer-Reviewed Original ResearchConceptsBaseline blood pressureDiastolic baseline blood pressureVentricular hypertrophyCardiovascular abnormalitiesSystolic baseline blood pressureComplications of treatmentDevelopment of hypertensionExercise stress testingSex-matched controlsCardiovascular physical examinationMaximal systolic pressureModerate nephrocalcinosisCreatinine clearanceAbnormal findingsBlood pressureHealthy ageSystolic pressureHolter studiesSerum calciumCardiovascular statusTherapeutic guidelinesPhysical examinationXLH patientsPatientsSuch abnormalities
1992
Effect of growth hormone treatment on hyperinsulinemia associated with turner syndrome
Caprio S, Boulware S, Press M, Sherwin R, Rubin K, Carpenter T, Plewe G, Tamborlane W. Effect of growth hormone treatment on hyperinsulinemia associated with turner syndrome. The Journal Of Pediatrics 1992, 120: 238-243. PMID: 1735819, DOI: 10.1016/s0022-3476(05)80434-2.Peer-Reviewed Original ResearchConceptsControl subjectsGrowth hormoneTurner syndromeHyperinsulinemic responseInsulin responseHyperglycemic glucose clamp techniqueSecond-phase insulin responseInsulin-stimulated glucose metabolismGlucose-stimulated insulin responseMonths of therapyMonths of treatmentTotal cholesterol levelsExcessive insulin secretionGrowth hormone treatmentGlucose clamp techniqueGlucose clamp procedureHuman growth hormoneBlood pressureGlucose incrementGlycosylated hemoglobinInsulin resistancePlasma levelsCholesterol levelsClamp procedureHealthy children
1990
Vitamin D metabolism in chronic childhood hypoparathyroidism: Evidence for a direct regulatory effect of calcium
Carpenter T, Insogna K, Boulware S, Mitnick M. Vitamin D metabolism in chronic childhood hypoparathyroidism: Evidence for a direct regulatory effect of calcium. The Journal Of Pediatrics 1990, 116: 252-257. PMID: 2299496, DOI: 10.1016/s0022-3476(05)82883-5.Peer-Reviewed Original Research