2022
The Enthesopathy of XLH Is a Mechanical Adaptation to Osteomalacia: Biomechanical Evidence from Hyp Mice
Macica CM, Luo J, Tommasini SM. The Enthesopathy of XLH Is a Mechanical Adaptation to Osteomalacia: Biomechanical Evidence from Hyp Mice. Calcified Tissue International 2022, 111: 313-322. PMID: 35618776, DOI: 10.1007/s00223-022-00989-7.Peer-Reviewed Original ResearchConceptsUltimate strengthLoading conditionsMaximum strainNormal loading conditionsTensile testsMechanical propertiesTensile stiffnessWT miceHyp miceMechanical loadingMechanical stressBiomechanical testingSoft boneStiffnessBone matrixAlkaline phosphataseMajor comorbiditiesAchilles insertionClinical picturePhysical functionMechanical adaptationHyperplastic expansionMurine modelTriceps suraeStrength
2020
Osteoarthritis, Osteophytes, and Enthesophytes Affect Biomechanical Function in Adults With X-linked Hypophosphatemia
Steele A, Gonzalez R, Garbalosa JC, Steigbigel K, Grgurich T, Parisi EJ, Feinn RS, Tommasini SM, Macica CM. Osteoarthritis, Osteophytes, and Enthesophytes Affect Biomechanical Function in Adults With X-linked Hypophosphatemia. The Journal Of Clinical Endocrinology & Metabolism 2020, 105: dgaa064. PMID: 32047911, PMCID: PMC8416779, DOI: 10.1210/clinem/dgaa064.Peer-Reviewed Original ResearchConceptsMusculoskeletal comorbiditiesGait analysisPassive ROMLifelong metabolic diseaseWeight-bearing jointsHealth care teamDiagnosis of XLHInterprofessional health care teamsKinematic gait analysisMusculoskeletal manifestationsClinical presentationMusculoskeletal disabilityDegenerative arthritisPhysical functionRadiologic imagingCervical spineGoniometric rangeDaily livingFunctional limitationsTrunk swayMetabolic diseasesMusculoskeletal functionAnkle jointSynovial jointsXLH
2019
The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey
Skrinar A, Dvorak-Ewell M, Evins A, Macica C, Linglart A, Imel E, Theodore-Oklota C, San Martin J. The Lifelong Impact of X-Linked Hypophosphatemia: Results From a Burden of Disease Survey. Journal Of The Endocrine Society 2019, 3: 1321-1334. PMID: 31259293, PMCID: PMC6595532, DOI: 10.1210/js.2018-00365.Peer-Reviewed Original ResearchPatient-reported outcomesActive vitamin DParents/caregiversVitamin DMean ageExcess fibroblast growth factor 23Joint pain/stiffnessFibroblast growth factor 23Pain/stiffnessGrowth factor 23History of fractureSubstantial disease burdenBurden of diseaseHuman monoclonal antibodyTibia/fibulaAssistive device useSymptom onsetFactor 23Spinal stenosisPhysical functionDisease burdenDisease manifestationsPhysical functioningCurrent treatmentAbnormal gait