2021
Three 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
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
2015
Bone turnover markers in Paget’s disease of the bone: A Systematic review and meta-analysis
Al Nofal A, Altayar O, BenKhadra K, Qasim Agha O, Asi N, Nabhan M, Prokop L, Tebben P, Murad M. Bone turnover markers in Paget’s disease of the bone: A Systematic review and meta-analysis. Osteoporosis International 2015, 26: 1875-1891. PMID: 26037791, DOI: 10.1007/s00198-015-3095-0.Peer-Reviewed Original ResearchConceptsBone turnover markersBone turnover marker concentrationsTurnover markersDisease activityDisease of bonePaget's diseaseBone ALPBone scintigraphyMeta-analysisConcentrations of bone turnover markersIntroductionPaget’s disease of boneMeta-analysis searching MEDLINEUrine N-terminal telopeptideProcollagen type 1 amino-terminal propeptideSystematic reviewBone-specific alkaline phosphataseMarkers of disease activityCorrelation of disease activityPresence of liver diseaseDisease patientsCochrane Central Register of Controlled TrialsQuantitative bone scintigraphyCentral Register of Controlled TrialsC-terminal telopeptideN-terminal telopeptide