2024
Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries
Goldsweig B, Yilmaz R, Waikar A, Brownstein C, Carpenter T. Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries. Journal Of Bone And Mineral Research 2024, 39: 1406-1411. PMID: 39163488, DOI: 10.1093/jbmr/zjae137.Peer-Reviewed Original ResearchFamilial hypocalciuric hypercalcemiaCalcium-sensing receptor geneLow calcium formulaParathyroid hormoneHypocalciuric hypercalcemiaSerum calciumUrinary calcium excretionElevated serum calciumAutosomal-dominant mannerWhole-exome sequencingExtracellular calcium-sensingMonths of ageMild hyperparathyroidismPTH levelsCalcium excretionIdiopathic hypoparathyroidismNewborn girlInactivating variantsRare formPathogenic variantsDownstream signaling proteinsManagement quandaryBenign conditionsReceptor geneExome sequencing
2023
Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia
Barros J, Braddock D, Carpenter T. Hypophosphatemic rickets: An unexplained early feature of craniometaphyseal dysplasia. Bone Reports 2023, 19: 101707. PMID: 37654679, PMCID: PMC10466911, DOI: 10.1016/j.bonr.2023.101707.Peer-Reviewed Original ResearchMonths of ageCraniometaphyseal dysplasiaLow serum phosphorusElevated serum alkaline phosphatase activityHeterozygous pathogenic variantsSerum alkaline phosphatase activityHigh tubular reabsorptionProgressive hyperostosisSecondary hyperparathyroidismRadiographic improvementSerum phosphorusTubular reabsorptionRadiographic changesCranial nervesEarly featureMetaphyseal flaringPathogenic variantsDysplasiaRicketsSkeletal dysplasiaBiochemical profileMonthsLong bonesCraniofacial bonesAge 1Genetic variants in the vitamin D pathway and their association with vitamin D metabolite levels: Detailed studies of an inner-city pediatric population suggest a modest but significant effect in early childhood
Fu L, Wong B, Li Z, Horst R, Williams R, Lee B, Miller J, Carpenter T, Cole D. Genetic variants in the vitamin D pathway and their association with vitamin D metabolite levels: Detailed studies of an inner-city pediatric population suggest a modest but significant effect in early childhood. The Journal Of Steroid Biochemistry And Molecular Biology 2023, 233: 106369. PMID: 37490983, DOI: 10.1016/j.jsbmb.2023.106369.Peer-Reviewed Original ResearchConceptsVitamin D pathwayD binding proteinPediatric populationInner-city pediatric populationVitamin D metabolite levelsVitamin D insufficiencyRisk pediatric populationsVitamin D metabolismVitamin D binding proteinVitamin D metabolitesD pathwayMonths of ageSanger sequencing confirmationD insufficiencyHealthy infantsD metabolismD levelsD metabolitesMultivariate regression modelLarge cohortMetabolite levelsRelevant associationsPotential roleEarly childhoodInter-individual differences
2020
OR29-01 Long-Term Safety in Adults with X-Linked Hypophosphatemia (XLH) Treated with Burosumab, a Fully Human Monoclonal Antibody Against FGF23: Final Results of a Phase 3 Trial
Perwad F, Portale A, Carpenter T, Briot K, Imel E, Kamenicky P, Weber T, Pitukcheewanont P, Cheong H, De Beur S, Imanishi Y, Ito N, Lachmann R, Tanaka H, Zhang L, Skrinar A, Rees L, Insogna K. OR29-01 Long-Term Safety in Adults with X-Linked Hypophosphatemia (XLH) Treated with Burosumab, a Fully Human Monoclonal Antibody Against FGF23: Final Results of a Phase 3 Trial. Journal Of The Endocrine Society 2020, 4: or29-01. PMCID: PMC7209551, DOI: 10.1210/jendso/bvaa046.147.Peer-Reviewed Original ResearchYears of ageSerum phosphorusWeek 96Dose reductionLong-term safety resultsTreatment-emergent adverse eventsMonoclonal antibodiesBaseline serum phosphorusHuman IgG1 monoclonal antibodyMean iPTH levelPhase 3 trialLong-term safetyHuman monoclonal antibodyConditional marketing authorizationMonths of ageIgG1 monoclonal antibodyIPTH levelsPlacebo groupAdverse eventsTreatment withdrawalWeek 24Radiographic evidenceMulticenter studyBurosumab treatmentMild hyperphosphatemia
1987
BONE FRAGILITY, CRANIOSYNOSTOSIS, HYDROCEPHALUS AND OCULAR PROPTOSIS: FURTHER OBSERVATIONS ON A NEWLY RECOGNIZED TYPE OF OSTEOGENESIS IMPERFECTA (OI)
Cole D, Carpenter T. BONE FRAGILITY, CRANIOSYNOSTOSIS, HYDROCEPHALUS AND OCULAR PROPTOSIS: FURTHER OBSERVATIONS ON A NEWLY RECOGNIZED TYPE OF OSTEOGENESIS IMPERFECTA (OI). Pediatric Research 1987, 21: 226-226. DOI: 10.1203/00006450-198704010-00360.Peer-Reviewed Original ResearchOcular proptosisOsteogenesis imperfectaPoor wound healingConnective tissue involvementYears of ageMonths of ageRecognized typesClinical featuresCompression fracturesEasy bruisingNew bone formationBone resorptionDiaphyseal fracturesTissue involvementBony deformityBone fragilityBlue scleraeBone deformitiesSimilar facial featuresJoint laxityBone volumeExtensive demineralizationUnrelated infantsHigh-pitched voiceNew cases