2023
Leg MRI as a Complementary Diagnostic Tool in the Assessment of Foot Drop
Torabi T, Zubair A, Nowak R, Tseng B, Haims A, Roy B. Leg MRI as a Complementary Diagnostic Tool in the Assessment of Foot Drop. Journal Of Clinical Neuromuscular Disease 2023, 25: 57-58. PMID: 37611274, DOI: 10.1097/cnd.0000000000000433.Peer-Reviewed Original ResearchPlasmapheresis Versus Intravenous Immunoglobulin in Patients With Autoimmune Neuromuscular and Neuro-immunological Conditions
Zubair A, Rethana M, Ma A, McAlpine L, Abulaban A, Munro B, Patwa H, Nowak R, Roy B. Plasmapheresis Versus Intravenous Immunoglobulin in Patients With Autoimmune Neuromuscular and Neuro-immunological Conditions. Journal Of Clinical Neuromuscular Disease 2023, 25: 11-17. PMID: 37611265, DOI: 10.1097/cnd.0000000000000439.Peer-Reviewed Original ResearchConceptsNeuro-immunological diseaseIntravenous immunoglobulinAutoimmune neurological disordersAutoimmune neuromuscular disorderAdult patientsElderly patientsNeurological disordersNeuromuscular disordersChronic inflammatory demyelinating polyradiculoneuropathyNational Inpatient Sample databaseNational Inpatient Sample datasetInflammatory demyelinating polyradiculoneuropathySafe therapeutic choiceRetrospective chart reviewAppropriate clinical settingSide effect profileDemyelinating polyradiculoneuropathyIVIG useChart reviewYounger patientsMyasthenia gravisEffect profileMedical historyPrimary diagnosisTherapeutic choiceTherapeutic developments for valosin-containing protein mediated multisystem proteinopathy
Boock V, Roy B, Pfeffer G, Kimonis V. Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy. Current Opinion In Neurology 2023, 36: 432-440. PMID: 37678339, DOI: 10.1097/wco.0000000000001184.Peer-Reviewed Original ResearchConceptsInclusion body myopathyPotential therapeutic targetValosin-containing proteinPaget's diseasePreclinical modelsTherapeutic approachesPotential therapyControl trialRare diseaseTherapeutic targetBody myopathyVivo modelFrontotemporal dementiaVCP mutationsMultisystem proteinopathyPathway involvementDiseaseTherapyMitochondrial dysfunctionTherapeutic developmentGene therapyMissense mutationsFunction activityATPase activityRCTsThe Plasma Cell Infiltrate Populating the Muscle Tissue of Patients with Inclusion Body Myositis Features Distinct B Cell Receptor Repertoire Properties
Jiang R, Roy B, Wu Q, Mohanty S, Nowak R, Shaw A, Kleinstein S, O’Connor K. The Plasma Cell Infiltrate Populating the Muscle Tissue of Patients with Inclusion Body Myositis Features Distinct B Cell Receptor Repertoire Properties. ImmunoHorizons 2023, 7: 310-322. PMID: 37171806, PMCID: PMC10579972, DOI: 10.4049/immunohorizons.2200078.Peer-Reviewed Original ResearchConceptsInclusion body myositisMemory B cellsCell infiltrateBody myositisB cellsIBM muscle biopsiesB-cell infiltratesPlasma cell infiltrateClass-switched IgGMuscle tissueAdaptive immune receptor repertoire sequencingHumoral responseHealthy controlsIgA isotypePlasma cellsCell repertoireMuscle biopsyInfiltratesDegenerative disordersDisease pathologyRepertoire sequencingSkeletal muscleDermatomyositisPolymyositisMyositisProvisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy
Roy B, Peck A, Evangelista T, Pfeffer G, Wang L, Diaz‐Manera J, Korb M, Wicklund M, Milone M, Freimer M, Kushlaf H, Villar‐Quiles R, Stojkovic T, Needham M, Palmio J, Lloyd T, Keung B, Mozaffar T, Weihl C, Kimonis V. Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy. Annals Of Clinical And Translational Neurology 2023, 10: 686-695. PMID: 37026610, PMCID: PMC10187720, DOI: 10.1002/acn3.51760.Peer-Reviewed Original ResearchConceptsVCP myopathyMultisystem proteinopathyPercent of patientsConsensus-based guidelinesOnly definitive wayHeterogeneous clinical phenotypesMagnetic resonance imagingMulti-gene panel sequencingAutosomal dominant patternRare genetic disorderPathogenic genetic variantsElectrodiagnostic studiesDisease mimicsLimb-girdle muscular dystrophy phenotypePatient advocacy organizationsVCP variantBone diseaseMuscle biopsyProvisional recommendationsDiagnostic uncertaintyPatient careClinical phenotypeMuscular dystrophy phenotypeResonance imagingMyopathy
2022
Heterogeneity of Acetylcholine Receptor Autoantibody–Mediated Complement Activity in Patients With Myasthenia Gravis
Obaid AH, Zografou C, Vadysirisack DD, Munro-Sheldon B, Fichtner ML, Roy B, Philbrick WM, Bennett JL, Nowak RJ, O'Connor KC. Heterogeneity of Acetylcholine Receptor Autoantibody–Mediated Complement Activity in Patients With Myasthenia Gravis. Neurology Neuroimmunology & Neuroinflammation 2022, 9: e1169. PMID: 35473886, PMCID: PMC9128035, DOI: 10.1212/nxi.0000000000001169.Peer-Reviewed Original ResearchConceptsAChR autoantibodiesMyasthenia gravisDisease burdenComplement activityAcetylcholine receptor autoantibodiesAChR-MG patientsComplement inhibitor therapyLower autoantibody levelsClinical disease scoresSubset of patientsHealthy donor samplesCell-based assaysMost patient samplesMembrane attack complex formationModest positive associationMG subtypesAutoantibody levelsAutoantibody titersComplement membrane attack complex formationMG patientsInhibitor therapyReceptor autoantibodiesHD groupTherapeutic responseMAC formationReliability of patient self-reports to clinician-assigned functional scores of inclusion body myositis
Roy B, Zubair A, Petschke K, O'Connor KC, Paltiel AD, Nowak RJ. Reliability of patient self-reports to clinician-assigned functional scores of inclusion body myositis. Journal Of The Neurological Sciences 2022, 436: 120228. PMID: 35344793, DOI: 10.1016/j.jns.2022.120228.Peer-Reviewed Original ResearchConceptsIBM functional rating scaleInclusion body myositisBody myositisInterrater correlation coefficientSporadic inclusion body myositisFine motor skillsImpaired ambulationFleiss kappa statisticFunctional scoresHand functionDisease progressionWhite CaucasiansClinical practiceNatural history dataRating ScaleKappa statisticsMyositisScoresMotor skillsIndividual questionsSubstantial agreementCorrelation coefficient analysisReliable indicatorParticipantsAmbulationClinical Reasoning: A 73-Year-Old Woman With Episodic Dysarthria and Horizontal Binocular Diplopia
Bower AS, Fisayo A, Baehring JM, Roy B. Clinical Reasoning: A 73-Year-Old Woman With Episodic Dysarthria and Horizontal Binocular Diplopia. Neurology 2022, 98: 767-772. PMID: 35264421, DOI: 10.1212/wnl.0000000000200347.Peer-Reviewed Original ResearchConceptsEMG findingsHorizontal diplopiaHorizontal binocular diplopiaPeripheral nerve hyperexcitabilitySodium channel inhibitorsImpaired abductionTongue fasciculationsTransient dysarthriaElectrodiagnostic studiesTongue deviationSymptomatic reliefClinical presentationNerve hyperexcitabilityNeurologic examinationElectrographic seizuresRight eyeBinocular diplopiaInflammatory conditionsSymptom frequencyOlder womenTransient episodesAdditional episodesMyokymiaSpontaneous depolarizationsChannel inhibitorsDevelopment of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy
Korb M, Peck A, Alfano LN, Berger KI, James MK, Ghoshal N, Healzer E, Henchcliffe C, Khan S, Mammen PPA, Patel S, Pfeffer G, Ralston SH, Roy B, Seeley WW, Swenson A, Mozaffar T, Weihl C, Kimonis V. Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Orphanet Journal Of Rare Diseases 2022, 17: 23. PMID: 35093159, PMCID: PMC8800193, DOI: 10.1186/s13023-022-02172-5.Peer-Reviewed Original ResearchConceptsStandard of careAmyotrophic lateral sclerosisCharcot Marie Tooth diseaseMultisystem proteinopathyFrontotemporal dementiaSupportive therapyValosin-containing proteinMarie Tooth diseaseExpert consensus recommendationsRare inherited disorderInclusion body myopathyMulti-gene panel sequencingSingle-gene testingNeuromuscular centerAppropriate pharmacotherapyMultidisciplinary carePaget's diseaseSecondary complicationsVCP diseaseMultisystem involvementMovement disordersPatient advocacy organizationsPhysical therapyPractice guidelinesConsensus recommendations
2021
Ulnar neuropathy from accessory epitrochlearis anconeus muscle
Zubair AS, Wang A, Roy B. Ulnar neuropathy from accessory epitrochlearis anconeus muscle. Neurological Sciences 2021, 43: 2165-2166. PMID: 34786630, DOI: 10.1007/s10072-021-05713-1.Peer-Reviewed Original ResearchInfluenza vaccination in autoimmune neuromuscular diseases: A survey of current practices and perceptions
Roy B, Litchman T, Torabi T, Nowak RJ. Influenza vaccination in autoimmune neuromuscular diseases: A survey of current practices and perceptions. Muscle & Nerve 2021, 63: 918-923. PMID: 33711167, DOI: 10.1002/mus.27224.Peer-Reviewed Original ResearchConceptsChronic inflammatory demyelinating polyneuropathyGuillain-Barré syndromeMyasthenia gravisInfluenza vaccinationInfluenza vaccineInflammatory demyelinating polyneuropathyAutoimmune neuromuscular diseaseAutoimmune neuromuscular disorderHistory of exacerbationsProfessional society recommendationsDemyelinating polyneuropathyGBS patientsVaccine recommendationsSociety recommendationsNeurology practitionersInternet-based surveyPatientsNeuromuscular diseaseUnmet needNeuromuscular disordersNeurologistsPractice settingsVaccinationVaccineRecommendation practicesElectronic health record derived-impact of COVID-19 on myasthenia gravis
Roy B, Kovvuru S, Nalleballe K, Onteddu SR, Nowak RJ. Electronic health record derived-impact of COVID-19 on myasthenia gravis. Journal Of The Neurological Sciences 2021, 423: 117362. PMID: 33639420, PMCID: PMC7895699, DOI: 10.1016/j.jns.2021.117362.Peer-Reviewed Original ResearchChallenges for Treatment Trials of Inclusion Body Myositis.
Roy B, Griggs RC. Challenges for Treatment Trials of Inclusion Body Myositis. Neurology 2021, 96: 555-556. PMID: 33597288, DOI: 10.1212/wnl.0000000000011628.Peer-Reviewed Original Research
2020
Bleeding with vascular endothelial growth factor tyrosine kinase inhibitor: A network meta-analysis
Das A, Mahapatra S, Bandyopadhyay D, Samanta S, Chakraborty S, Philpotts LL, Jahangir E, Roy B. Bleeding with vascular endothelial growth factor tyrosine kinase inhibitor: A network meta-analysis. Critical Reviews In Oncology/Hematology 2020, 157: 103186. PMID: 33309571, DOI: 10.1016/j.critrevonc.2020.103186.Peer-Reviewed Original ResearchConceptsTyrosine kinase inhibitorsHemorrhagic eventsVEGFR-TKICancer patientsOdds ratioVascular endothelial growth factor tyrosine kinase inhibitorVascular endothelial growth factor receptor tyrosine kinase inhibitorsGrowth factor receptor tyrosine kinase inhibitorsReceptor tyrosine kinase inhibitorsKinase inhibitorsHigh-grade bleedingSide effect profileStandard chemotherapeutic regimenFirst-choice treatmentConfidence intervalsRandom-effects modelTypes of cancerVEGFR-TKIsChemotherapeutic regimenPrimary outcomeClinical trialsHigh riskPlaceboComparative riskPatientsImmunosuppression in chronic autoimmune neurological disorders during the COVID-19 pandemic
Kovvuru S, Nalleballe K, Onteddu SR, Sharma R, Jasti M, Kapoor N, Veerapaneni K, Yadala S, Dandu V, Archer R, Nowak RJ, Roy B. Immunosuppression in chronic autoimmune neurological disorders during the COVID-19 pandemic. Journal Of The Neurological Sciences 2020, 420: 117230. PMID: 33256952, PMCID: PMC7837234, DOI: 10.1016/j.jns.2020.117230.Peer-Reviewed Original ResearchConceptsAutoimmune neuromuscular disorderImmunosuppressive therapyMultiple sclerosisChronic autoimmune neuromuscular disorderNeuromuscular disordersCOVID-19Electronic medical record dataAutoimmune neurological disordersRisk of hospitalizationOverall infection riskMedical record dataRegistry-based dataCorona Virus Disease 2019Expert opinion guidelinesCOVID-19 databaseClinical research platformImmunosuppressed patientsImmunotherapy regimensAdditional physiciansDisease 2019Diseases-10International ClassificationPatientsNeurological disordersHospitalizationRisk of coronavirus disease 2019 (COVID-19) from hospital admission during the pandemic
Nalleballe K, Siddamreddy S, Kovvuru S, Veerapaneni P, Roy B, Onteddu SR. Risk of coronavirus disease 2019 (COVID-19) from hospital admission during the pandemic. Infection Control And Hospital Epidemiology 2020, 42: 1285-1286. PMID: 33028457, PMCID: PMC7578623, DOI: 10.1017/ice.2020.1249.Peer-Reviewed Original ResearchReply to: What is the pattern of the neuropathy associated with anti‐FGFR3 antibodies?
Roy B, Kovvuru S, Castillo Y, Huttner A, Nowak R. Reply to: What is the pattern of the neuropathy associated with anti‐FGFR3 antibodies? European Journal Of Neurology 2020, 27: e59-e59. PMID: 32503081, DOI: 10.1111/ene.14381.Peer-Reviewed Original ResearchTeleneurology during the COVID-19 pandemic: A step forward in modernizing medical care
Roy B, Nowak RJ, Roda R, Khokhar B, Patwa HS, Lloyd T, Rutkove SB. Teleneurology during the COVID-19 pandemic: A step forward in modernizing medical care. Journal Of The Neurological Sciences 2020, 414: 116930. PMID: 32460041, PMCID: PMC7241381, DOI: 10.1016/j.jns.2020.116930.Peer-Reviewed Original ResearchConceptsCOVID-19 pandemicMedical careAcute stroke careDepartment of NeurologyChronic neurological disorderTeleneurology visitsOutpatient visitsStroke careTelevisitsYale University SchoolNeurological disordersHealth policyJohns Hopkins SchoolTeleneurologyVisitsCareUniversity SchoolInsurance providersNeurologyPandemicRecent pandemicSocial distancingLiterature reviewMedicineFace encountersClinical Effects of the Self-administered Subcutaneous Complement Inhibitor Zilucoplan in Patients With Moderate to Severe Generalized Myasthenia Gravis
Howard JF, Nowak RJ, Wolfe GI, Freimer ML, Vu TH, Hinton JL, Benatar M, Duda PW, MacDougall JE, Farzaneh-Far R, Kaminski HJ, Barohn R, Dimachkie M, Pasnoor M, Farmakidis C, Liu T, Colgan S, Benatar M, Bertorini T, Pillai R, Henegar R, Bromberg M, Gibson S, Janecki T, Freimer M, Elsheikh B, Matisak P, Genge A, Guidon A, David W, Habib A, Mathew V, Mozaffar T, Hinton J, Hewitt W, Barnett D, Sullivan P, Ho D, Howard J, Traub R, Chopra M, Kaminski H, Aly R, Bayat E, Abu-Rub M, Khan S, Lange D, Holzberg S, Khatri B, Lindman E, Olapo T, Sershon L, Lisak R, Bernitsas E, Jia K, Malik R, Lewis-Collins T, Nicolle M, Nowak R, Sharma A, Roy B, Nye J, Pulley M, Berger A, Shabbir Y, Sachdev A, Patterson K, Siddiqi Z, Sivak M, Bratton J, Small G, Kohli A, Fetter M, Vu T, Lam L, Harvey B, Wolfe G, Silvestri N, Patrick K, Zakalik K, Duda P, MacDougall J, Farzaneh-Far R, Pontius A, Hoarty M. Clinical Effects of the Self-administered Subcutaneous Complement Inhibitor Zilucoplan in Patients With Moderate to Severe Generalized Myasthenia Gravis. JAMA Neurology 2020, 77: 582-592. PMID: 32065623, PMCID: PMC7042797, DOI: 10.1001/jamaneurol.2019.5125.Peer-Reviewed Original ResearchConceptsGeneralized myasthenia gravisSecondary end pointsDaily living scoreTolerability profileEnd pointLiving scoreMyasthenia gravisClinical effectsPlacebo-controlled phase 2 clinical trialKey secondary efficacy end pointsKey secondary end pointSecondary efficacy end pointsSevere Generalized Myasthenia GravisQuantitative Myasthenia Gravis ScorePhase 2 clinical trialAcetylcholine receptor autoantibodiesEfficacy end pointMyasthenia gravis scoreMG activityComplement component 5Disease-specific variablesQuality of lifeComplete complement inhibitionBroader populationDaily SCExploring outcomes and characteristics of myasthenia gravis: Rationale, aims and design of registry – The EXPLORE-MG registry
Anil R, Kumar A, Alaparthi S, Sharma A, Nye JL, Roy B, O'Connor KC, Nowak RJ. Exploring outcomes and characteristics of myasthenia gravis: Rationale, aims and design of registry – The EXPLORE-MG registry. Journal Of The Neurological Sciences 2020, 414: 116830. PMID: 32388060, DOI: 10.1016/j.jns.2020.116830.Peer-Reviewed Original ResearchConceptsMyasthenia gravisMG patientsContemporary patient cohortKey clinical featuresMuscle-specific kinaseMG clinicClinical featuresGeneralized diseaseOutcomes RegistryPatient cohortPatient outcomesTreatment responsivenessTreatment outcomesTreatment strategiesRegistry dataEpidemiological dataInterim analysisData registryOcular diseasesPatientsCommon data elementsAcetylcholine receptorsRegistryPatient careDisease