2024
Addressing challenges in diagnosis and management of rare disease through interprofessional education
Helderman R, Macica C, Weinstein A, Feinn R, Doyle M. Addressing challenges in diagnosis and management of rare disease through interprofessional education. Rare 2024, 2: 100044. DOI: 10.1016/j.rare.2024.100044.Peer-Reviewed Original ResearchInterprofessional educationInterprofessional teamHealthcare studentsEducating health professional studentsEffective interprofessional teamInterprofessional team membersInterprofessional healthcare teamsHealth professional studentsPrevalence of rare diseasesInterprofessional education eventsSignificant public health challengePublic health challengeOpen-ended questionsInterprofessional modelManagement of rare diseasesInterprofessional communicationHealthcare teamImprove careHealthcare professionalsLack of resourcesProfessional studentsSupport resourcesPerceived confidenceParticipants' knowledge acquisitionHealth challenges
2023
Biomechanical Impact of Phosphate Wasting on Articular Cartilage Using the Murine Hyp Model of X‐linked hypophosphatemia
Macica C, Tommasini S. Biomechanical Impact of Phosphate Wasting on Articular Cartilage Using the Murine Hyp Model of X‐linked hypophosphatemia. JBMR Plus 2023, 7: e10796. PMID: 37808393, PMCID: PMC10556269, DOI: 10.1002/jbm4.10796.Peer-Reviewed Original ResearchWT miceHyp miceMechanical propertiesArticular cartilageTrabecular bone volumeProgression of osteoarthritisEtiology of osteoarthritisRange of motionSubchondral bone plateOral phosphateDegenerative osteoarthritisTibial articular cartilageDaily livingAC stiffnessBone volumeTherapeutic restorationOsteoarthritisStructural stiffnessCompressive loadingMicePeak loadTherapyCellular changesMineral deficitStress relaxation
2022
Suspected cholinergic toxicity due to cevimeline hydrochloride and Bacopa monnieri interaction: a case report
Acquarulo B, Tandon P, Macica C. Suspected cholinergic toxicity due to cevimeline hydrochloride and Bacopa monnieri interaction: a case report. Journal Of Medical Case Reports 2022, 16: 253. PMID: 35765109, PMCID: PMC9241182, DOI: 10.1186/s13256-022-03479-4.Peer-Reviewed Original ResearchConceptsSjögren's syndromePossible drug-herb interactionsPrimary care officesDrug-herb interactionsST-T changesCevimeline hydrochlorideClinical improvementUndesirable side effectsUrinary retentionCase presentationACare officesCase reportCholinergic toxicityCaucasian femaleHerbal supplementsSide effectsClinical relevanceDrug responsivenessCommon genetic variantsSyndromeDrugsPrevious nightCytochrome P450Genetic variantsSupplementation interactionAn 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 effectsHypophosphatemiaThe 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
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
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
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
2017
Overview of Phosphorus-Wasting Diseases and Need for Phosphorus Supplements
Macica C. Overview of Phosphorus-Wasting Diseases and Need for Phosphorus Supplements. 2017, 185-200. DOI: 10.1201/9781315119533-14.Peer-Reviewed Original ResearchPhosphate-wasting disordersTumor-induced osteomalaciaTypical Western dietTotal body phosphorusNet intestinal absorptionIntestinal absorptionModerate hypophosphatemiaChronic casesWestern dietRenal phosphate-wasting disordersOral phosphate saltsRenal phosphate wastingSevere hypophosphatemiaChronic hypophosphatemiaMuscle painRenal functionBody phosphorusClinical presentationMetabolic disturbancesSuch therapyPhosphate wastingBone diseaseHigh-protein foodsPediatric disordersDietary load
2016
Novel anatomic adaptation of cortical bone to meet increased mineral demands of reproduction
Macica CM, King HE, Wang M, McEachon CL, Skinner CW, Tommasini SM. Novel anatomic adaptation of cortical bone to meet increased mineral demands of reproduction. Bone 2016, 85: 59-69. PMID: 26825813, PMCID: PMC7429445, DOI: 10.1016/j.bone.2015.12.056.Peer-Reviewed Original ResearchConceptsHyp miceMineral homeostasisElevated serum PTHMaternal bone massMineralized trabecular boneIntestinal calcium absorptionCortical boneWild-type miceSerum PTHCalcitriol productionFemale patientsMaternal skeletonPostnatal nutritionCalcium absorptionBone resorptionFracture riskMaternal adaptationBone massBone fragilityMurine modelIntracortical porosityUnaffected miceMouse modelMMP-13Fetal development
2015
Blended Learning in The Context of Over‐The‐Counter Drugs: An Approach to Medical Pharmacology Education
McHugh D, Macica C. Blended Learning in The Context of Over‐The‐Counter Drugs: An Approach to Medical Pharmacology Education. The FASEB Journal 2015, 29 DOI: 10.1096/fasebj.29.1_supplement.lb463.Peer-Reviewed Original ResearchWiki assignmentsSummative assessment dataFirst-year curriculumAdaptive learning behaviorBlended learningYear curriculumBiology curriculumPharmacology educationStudent postsStudents' abilityPharmacology contentTeaching videosActive learningConcept mapsLearning behaviorLearning eventsMedical studentsCommon OTC medicationsStudentsAssessment dataLearningSafe environmentCurriculumDrug knowledgeYear 1
2013
Mineralizing enthesopathy is a common feature of renal phosphate-wasting disorders attributed to FGF23 and is exacerbated by standard therapy in Hyp mice
Macica C, Karaplis A, Bai X, Desai S, Falet J. Mineralizing enthesopathy is a common feature of renal phosphate-wasting disorders attributed to FGF23 and is exacerbated by standard therapy in Hyp mice. Seminars In Arthritis And Rheumatism 2013, 42: 550. DOI: 10.1016/j.semarthrit.2012.12.019.Peer-Reviewed Original Research
2012
Mineralizing Enthesopathy Is a Common Feature of Renal Phosphate-Wasting Disorders Attributed to FGF23 and Is Exacerbated by Standard Therapy in Hyp Mice
Karaplis A, Bai X, Falet J, Macica C. Mineralizing Enthesopathy Is a Common Feature of Renal Phosphate-Wasting Disorders Attributed to FGF23 and Is Exacerbated by Standard Therapy in Hyp Mice. Endocrinology 2012, 153: 5906-5917. PMID: 23038738, PMCID: PMC3512070, DOI: 10.1210/en.2012-1551.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsExtracellular Matrix ProteinsFamilial Hypophosphatemic RicketsFemaleFibroblast Growth Factor-23Fibroblast Growth FactorsGenetic Diseases, X-LinkedImmunohistochemistryKidneyMaleMiceMice, Inbred C57BLMice, TransgenicModels, GeneticMutationPedigreePhosphatesPhosphoproteinsRheumatic DiseasesTransgenesUp-RegulationConceptsPhosphate-wasting disordersStandard therapyFGF23 levelsElevated fibroblast growth factor 23Hyp miceRenal phosphate-wasting disordersFibroblast growth factor 23High FGF23 levelsGrowth factor 23Elevated FGF23 levelsAction of FGF23Dentin matrix acidic phosphoprotein 1Phosphate wasting disorderAutosomal recessive hypophosphatemic ricketsRecessive hypophosphatemic ricketsLigament insertion sitesChildhood managementOral phosphateFactor 23Achilles insertionDisease morbidityPotential morbidityBone spursUntoward effectsMurine model
2011
Genetic evidence of the regulatory role of parathyroid hormone–related protein in articular chondrocyte maintenance in an experimental mouse model
Macica C, Liang G, Nasiri A, Broadus AE. Genetic evidence of the regulatory role of parathyroid hormone–related protein in articular chondrocyte maintenance in an experimental mouse model. Arthritis & Rheumatism 2011, 63: 3333-3343. PMID: 21702022, PMCID: PMC3197958, DOI: 10.1002/art.30515.Peer-Reviewed Original ResearchConceptsHormone-related proteinDegenerative changesKO miceParathyroid hormone-related proteinMale KO miceExperimental mouse modelMouse articular cartilageTotal histologic scoreIndian hedgehogTibial articular surfaceArticular chondrocytesArticular cartilageGrowth differentiation factor 5Degenerative findingsControl miceHistologic scoresMouse modelCompensatory increaseTime-course studyDifferentiation factor 5PTHrPRegulatory roleMiceConditional deletionChondrocyte maintenanceAn Atypical Degenerative Osteoarthropathy in Hyp Mice is Characterized by a Loss in the Mineralized Zone of Articular Cartilage
Liang G, VanHouten J, Macica C. An Atypical Degenerative Osteoarthropathy in Hyp Mice is Characterized by a Loss in the Mineralized Zone of Articular Cartilage. Calcified Tissue International 2011, 89: 151-162. PMID: 21643724, DOI: 10.1007/s00223-011-9502-4.Peer-Reviewed Original Research
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
2008
Regulation of articular chondrocyte proliferation and differentiation by indian hedgehog and parathyroid hormone–related protein in mice
Chen X, Macica CM, Nasiri A, Broadus AE. Regulation of articular chondrocyte proliferation and differentiation by indian hedgehog and parathyroid hormone–related protein in mice. Arthritis & Rheumatism 2008, 58: 3788-3797. PMID: 19035497, PMCID: PMC2599803, DOI: 10.1002/art.23985.Peer-Reviewed Original ResearchConceptsPTHrP expressionParathyroid hormone-related proteinArticular cartilagePTHrP-knockout micePathogenesis of arthritisWeight-bearing jointsHormone-related proteinChondrocyte proliferationIndian hedgehogGrowth plate structureCell of originArticular chondrocytesEpiphyseal growth zoneSecondary ossification centerArticular chondrocyte differentiationArticular chondrocyte proliferationAdult miceAxis participatesKnockin miceMicePTHrPProtein axisOssification centersIhhCartilage