2017
Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome
Sakka S, Gafni R, Davies J, Clarke B, Tebben P, Samuels M, Saraff V, Klaushofer K, Fratzl-Zelman N, Roschger P, Rauch F, Högler W. Bone Structural Characteristics and Response to Bisphosphonate Treatment in Children With Hajdu-Cheney Syndrome. The Journal Of Clinical Endocrinology & Metabolism 2017, 102: 4163-4172. PMID: 28938420, PMCID: PMC5673271, DOI: 10.1210/jc.2017-01102.Peer-Reviewed Original ResearchConceptsHajdu-Cheney syndromeIncreased bone resorptionBP therapyNOTCH2 mutationsLumbar spine bone mineral densityBone resorptionIncreased heterogeneity of mineralizationResponse to bisphosphonate treatmentLumbar spine bone densitySpine bone mineral densityDual-energy X-ray absorptiometryTransiliac bone biopsy specimensQuantitative computed tomography resultsBone histomorphometric characteristicsSpine bone densityPeripheral quantitative computed tomography resultsCortical thicknessResponse to bisphosphonatesX-ray absorptiometryBone mineral densityPeripheral quantitative computed tomographyBone biopsy specimensResponse to BPComputed tomography resultsQuantitative computed tomography
2016
Severe non-infective systemic inflammatory response syndrome, shock, and end-organ dysfunction after zoledronic acid administration in a child
Trivedi S, Al-Nofal A, Kumar S, Tripathi S, Kahoud R, Tebben P. Severe non-infective systemic inflammatory response syndrome, shock, and end-organ dysfunction after zoledronic acid administration in a child. Osteoporosis International 2016, 27: 2379-2382. PMID: 26892041, DOI: 10.1007/s00198-016-3528-4.Peer-Reviewed Case Reports and Technical NotesConceptsZoledronic acidPediatric patientsMethodsA 7-year-old boyInfusion of zoledronic acidModerate acute respiratory distress syndromeNon-infective systemic inflammatory response syndromeIncreased bone mineral densitySystemic inflammatory response syndromeElevated C-reactive proteinAcute respiratory distress syndromeIntensive cardiorespiratory supportZoledronic acid infusionAbnormal coagulation profileZoledronic acid therapyHypoxic-ischemic encephalopathyPediatric intensive care unitEnd-organ dysfunctionZoledronic acid administrationInflammatory response syndromeBone mineral densityRespiratory distress syndromeRisk of fractureC-reactive proteinIncreased oxygen requirementIntensive care unit
2012
Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy
Tebben P, Milliner D, Horst R, Harris P, Singh R, Wu Y, Foreman J, Chelminski P, Kumar R. Hypercalcemia, Hypercalciuria, and Elevated Calcitriol Concentrations with Autosomal Dominant Transmission Due to CYP24A1 Mutations: Effects of Ketoconazole Therapy. The Journal Of Clinical Endocrinology & Metabolism 2012, 97: e423-e427. PMID: 22337913, PMCID: PMC3319216, DOI: 10.1210/jc.2011-1935.Peer-Reviewed Original ResearchConceptsSplice junction mutationElevated serum 1,25-dihydroxyvitamin DSerum 1,25-dihydroxyvitamin DAutosomal dominant transmissionCYP24A1 geneIntermittent hypercalcemiaUrinary calciumAnalysis of family membersDominant transmissionNormal rangeD concentrationsElevated 1,25-dihydroxyvitamin DReduced bone mineral densitySerum 24,25-dihydroxyvitamin DCYP24A1 gene mutationsElevated urinary calciumReduced urinary calciumBone mineral densityGenetic analysisGenetic basisElevated 1,25-dihydroxyvitamin D concentrationsStatistically significant reductionDecreased PTH concentrationsFamily membersGenes
2010
Severe Hypercalcemia due to Primary Hyperparathyroidism with MEN 2A
Thompson G, Dy B, Vazquez B, Tebben P, Kumar S. Severe Hypercalcemia due to Primary Hyperparathyroidism with MEN 2A. World Journal Of Endocrine Surgery 2010, 2: 131-133. DOI: 10.5005/jp-journals-10002-1037.Peer-Reviewed Original ResearchSevere hypercalcemia due to primary hyperparathyroidismHypercalcemia due to primary hyperparathyroidismPrimary hyperparathyroidismSevere hypercalcemiaParathyroid adenomaMEN 2ASurgical managementRare presentation of primary hyperparathyroidismCalcium levelsPresentation of primary hyperparathyroidismDecreased bone mineral densityElevation of serum calciumSingle parathyroid adenomaTreatment of hyperparathyroidismEarly surgical managementBone mineral densityTime of diagnosisParathyroid carcinomaRare presentationClinical presentationSerum calciumMineral densitySevere elevationClinical manifestationsDifferential diagnosisGermline 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