2021
Creation of an Evidence-Based Physical Therapy Program for Adults with XLH: Translational Application of an Interprofessional Clinical Study
Kanamalla K, Fuchs R, Herzog C, Steigbigel K, Macica C. Creation of an Evidence-Based Physical Therapy Program for Adults with XLH: Translational Application of an Interprofessional Clinical Study. Journal Of The Endocrine Society 2021, 5: a260-a260. PMCID: PMC8089516, DOI: 10.1210/jendso/bvab048.528.Peer-Reviewed Original ResearchLower Extremity Functional ScaleBerg Balance ScaleBalance ScaleActivities-specific Balance Confidence ScaleLifelong metabolic diseasePT programBalance Confidence ScaleIntestinal phosphate absorptionPhysical therapy programMusculoskeletal comorbiditiesStandard therapyClinical pictureBalance exercisesDegenerative arthritisActive ROMLower extremitiesClinical studiesFunctional scalesDaily livingFunctional capacityFunctional abilityFunctional comorbiditiesTrunk swayAdult disordersMetabolic diseases
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 assessmentOsteoarthritis, 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
2018
Vibrational 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