2022
An Evidence-based Physical Therapy Prescription for Adults With X-linked Hypophosphatemia
Kanamalla K, Fuchs R, Herzog C, Steigbigel K, Macica C. An Evidence-based Physical Therapy Prescription for Adults With X-linked Hypophosphatemia. Journal Of The Endocrine Society 2022, 6: bvac094. PMID: 35795809, PMCID: PMC9249973, DOI: 10.1210/jendso/bvac094.Peer-Reviewed Original ResearchAdult disordersConsiderable physical disabilityLower extremity ROMPhosphate-wasting disordersPhysical therapy prescriptionPhysical therapy recommendationsPT programKinetic chain exercisesPatient-centered studiesMusculoskeletal comorbiditiesExercise modificationsPatient goalsTherapy prescriptionFunctional improvementTherapy recommendationsClinical studiesActive rangeDaily livingProgression statusFunctional abilityXLHPhysical disabilityMinimal improvementFunctional effectsHypophosphatemia
2020
Giving Credence to the Experience of X-Linked Hypophosphatemia in Adulthood: An Interprofessional Mixed-Methods Study
Hughes M, Macica C, Meriano C, Doyle M. Giving Credence to the Experience of X-Linked Hypophosphatemia in Adulthood: An Interprofessional Mixed-Methods Study. Journal Of Patient-Centered Research And Reviews 2020, 7: 176-188. PMID: 32377551, PMCID: PMC7197891, DOI: 10.17294/2330-0698.1727.Peer-Reviewed Original ResearchFunctional outcomePhysical findingsPhysical therapy assessmentBurden of diseaseMetabolic bone diseaseHealth care providersPhysical comorbiditiesDental abscessChronic painDegenerative arthritisProvider awarenessBone diseaseCare providersTherapy assessmentNew treatmentsPhysical debilitationOccupational therapyDiagnostic imagingXLHMixed-methods studyHypophosphatemiaPainAdulthoodDiseaseAdequate assessment
2018
Joint replacement in X-linked hypophosphatemia
Mills E, Iorio L, Feinn R, Duignan K, Macica C. Joint replacement in X-linked hypophosphatemia. Journal Of Orthopaedics 2018, 16: 55-60. PMID: 30662239, PMCID: PMC6324762, DOI: 10.1016/j.jor.2018.12.007.Peer-Reviewed Original ResearchMean followOsteoarthritis Outcome Score-Physical Function Short FormPhysical Function Short FormHOOS-PS scoresKOOS-PS scoresTotal knee arthroplastyTotal joint arthroplastyTotal hip arthroplastySevere degenerative osteoarthritisKnee arthroplastyPatient surveyDegenerative osteoarthritisJoint arthroplastyHip arthroplastyAseptic looseningJoint replacementArthroplastyPolyethylene wearHypophosphatemiaShort formFollowKneeScoresPatientsOsteoarthritisVibrational spectroscopic analysis of hydroxyapatite in HYP mice and individuals with X-linked hypophosphatemia
Amenta E, King HE, Petermann H, Uskoković V, Tommasini SM, Macica CM. Vibrational spectroscopic analysis of hydroxyapatite in HYP mice and individuals with X-linked hypophosphatemia. Therapeutic Advances In Chronic Disease 2018, 9: 268-281. PMID: 30719271, PMCID: PMC6348532, DOI: 10.1177/2040622318804753.Peer-Reviewed Original ResearchUnaffected controlsPhosphate-wasting disordersWild-type micePersistent osteomalaciaDegenerative arthritisPeriodontal diseasePrimary teethPermanent teethFemoral cortical boneAdult disordersNeutral endopeptidaseHyp miceBone remodelingBiochemical milieuXLHCommon formCortical boneUse of dentinHypophosphatemiaSignificant differencesTeethInactivating mutationBoneUnaffected individualsMice
2009
Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice
Liang G, Katz LD, Insogna KL, Carpenter TO, Macica CM. Survey of the Enthesopathy of X-Linked Hypophosphatemia and Its Characterization in Hyp Mice. Calcified Tissue International 2009, 85: 235-246. PMID: 19609735, PMCID: PMC2988401, DOI: 10.1007/s00223-009-9270-6.Peer-Reviewed Original ResearchMeSH KeywordsAchilles TendonAdolescentAdultAgedAnimalsBiomarkersCalcinosisChildDisease Models, AnimalDisease ProgressionFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedHumansMiceMice, Inbred C57BLMiddle AgedPatellar LigamentPhenotypeQuadriceps MuscleRadiographyRheumatic DiseasesTendinopathyTendonsYoung AdultConceptsFGF-23Fibroblast growth factor receptor 3Hyp miceMajority of patientsHigh circulating levelsPhosphate-regulating hormoneBone spur formationTendon insertion siteGrowth factor receptor 3Insertion siteLigament insertion sitesCirculating LevelsPhosphate excretionBone-forming osteoblastsHeterotopic calcificationOsteophyte formationHistological examinationMurine modelReceptor 3Spur formationHypophosphatemiaEnthesis fibrocartilageBone mineralizationBiochemical milieuMice