2023
Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments
Kato H, Braddock D, Ito N. Genetics of Diffuse Idiopathic Skeletal Hyperostosis and Ossification of the Spinal Ligaments. Current Osteoporosis Reports 2023, 21: 552-566. PMID: 37530996, PMCID: PMC10543536, DOI: 10.1007/s11914-023-00814-6.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsDiffuse idiopathic skeletal hyperostosisAutosomal recessive hypophosphatemic rickets type 2Idiopathic skeletal hyperostosisSkeletal hyperostosisOPLL patientsGenetic factorsPathogenic variantsFibroblast growth factor 23Growth factor 23Posterior longitudinal ligamentSpinal ligament ossificationRecent FindingsRecent studiesStrong genetic factorImportant new biomarkerDisease courseFactor 23Longitudinal ligamentClinical evaluationPlasma biomarkersClinical trialsLigament ossificationPlasma PPiCalcification disordersPatientsEctopic calcificationLonafarnib improves cardiovascular function and survival in a mouse model of Hutchinson-Gilford progeria syndrome
Murtada S, Mikush N, Wang M, Ren P, Kawamura Y, Ramachandra A, Li D, Braddock D, Tellides G, Gordon L, Humphrey J. Lonafarnib improves cardiovascular function and survival in a mouse model of Hutchinson-Gilford progeria syndrome. ELife 2023, 12: e82728. PMID: 36930696, PMCID: PMC10023154, DOI: 10.7554/elife.82728.Peer-Reviewed Original ResearchConceptsMouse modelLeft ventricular diastolic functionHutchinson-Gilford progeria syndromeVentricular diastolic functionPulse wave velocityDrug-associated effectsMTOR inhibitor rapamycinCardiovascular sequelaeDiastolic functionProgeria syndromeDevastating conditionCardiac functionCardiovascular functionClinical trialsCardiovascular diseaseMuscular arteriesUS FoodDrug AdministrationProgeria miceArterial structurePremature deathLonafarnibCardiovascular structureCharacteristics of agingInhibitor rapamycin
2019
Extraskeletal Calcifications in Hutchinson-Gilford Progeria Syndrome
Gordon C, Cleveland R, Baltrusaitis K, Massaro J, D'Agostino R, Liang M, Snyder B, Walters M, Li X, Braddock D, Kleinman M, Kieran M, Gordon L. Extraskeletal Calcifications in Hutchinson-Gilford Progeria Syndrome. Bone 2019, 125: 103-111. PMID: 31077852, PMCID: PMC6628204, DOI: 10.1016/j.bone.2019.05.008.Peer-Reviewed Original ResearchConceptsUrinary calcium/creatinine ratioCalcium/creatinine ratioExtraskeletal calcificationParathyroid hormoneClinical trialsHutchinson-Gilford progeria syndromeCreatinine ratioPhysical examinationNormal limitsPlasma magnesiumFibroblast growth factor 23Successive clinical trialsNormal renal functionCalcium carbonate supplementationGrowth factor 23Age-matched controlsEvaluable patientsRoutine supplementationSupplement discontinuationZoledronate therapyRenal functionCalcinosis cutisCalcium supplementationFactor 23Serum calcium