2025
Autoimmune mechanisms elucidated through muscle acetylcholine receptor structures
Li H, Pham M, Teng J, O'Connor K, Noviello C, Hibbs R. Autoimmune mechanisms elucidated through muscle acetylcholine receptor structures. Cell 2025, 188: 2390-2406.e20. PMID: 40203823, PMCID: PMC12118449, DOI: 10.1016/j.cell.2025.03.004.Peer-Reviewed Original ResearchConceptsMyasthenia gravisPatient-derived monoclonal antibodiesAntibody-mediated autoimmune disordersVariable patient responseDiverse pathogenic mechanismsAcetylcholine (AChMG immunopathogenesisHuman muscle AChRReceptor blockadeReceptor inhibitionAdult AChRAutoimmune mechanismsAutoimmune disordersChannel activitySkeletal muscle contractionMuscle weaknessEpitope diversityPathogenic mechanismsMuscle AChRIonotropic receptorsMonoclonal antibodiesComplement activationPatient responseMuscle contractionAChRComposition and function of AChR chimeric autoantibody receptor T cells for antigen-specific B cell depletion in myasthenia gravis
Oh S, Khani-Habibabadi F, O'Connor K, Payne A. Composition and function of AChR chimeric autoantibody receptor T cells for antigen-specific B cell depletion in myasthenia gravis. Science Advances 2025, 11: eadt0795. PMID: 40020066, PMCID: PMC11870065, DOI: 10.1126/sciadv.adt0795.Peer-Reviewed Original ResearchConceptsChimeric autoantibody receptorsMyasthenia gravisAnti-AChRChimeric autoantibody receptor T cellsSurface expressionSustained surface expressionTarget cell eliminationB-cell depletionT cell cytotoxicityB-cell outgrowthSevere muscle weaknessMouse xenograft modelSuppress immune functionCellular immunotherapyAChR-MGMg therapyT cellsB cellsXenograft modelMuscle weaknessImmune functionNeuromuscular transmissionCell eliminationCD28Gravis
2024
The cortical neurophysiological signature of amyotrophic lateral sclerosis
Trubshaw M, Gohil C, Yoganathan K, Kohl O, Edmond E, Proudfoot M, Thompson A, Talbot K, Stagg C, Nobre A, Woolrich M, Turner M. The cortical neurophysiological signature of amyotrophic lateral sclerosis. Brain Communications 2024, 6: fcae164. PMID: 38779353, PMCID: PMC11109820, DOI: 10.1093/braincomms/fcae164.Peer-Reviewed Original ResearchAmyotrophic lateral sclerosisIncreasing disability scoreLateral sclerosisIncreased disabilityHealthy age-matched controlsIncreased muscle weaknessAge-matched controlsProgressive loss of motor functionAmplitude envelope correlationGamma-band powerHigh-gamma band powerLoss of motor functionDisease-causing genetic variantsPharmacodynamic biomarkersPredictive markerBand powerDisability scoresHigh-gamma frequency bandPaired-pulse transcranial magnetic stimulationAsymptomatic carriersEyes-open stateDiagnostic valueMuscle weaknessCortical betaGamma power
2023
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Armengol V, Darras B, Abulaban A, Alshehri A, Barisic N, Ben-Omran T, Bernert G, Castiglioni C, Chien Y, Farrar M, Kandawasvika G, Khadilkar S, Mah J, Marini-Bettolo C, Osredkar D, Pfeffer G, Piazzon F, Pitarch Castellano I, Quijano-Roy S, Saito K, Shin J, Vázquez-Costa J, Walter M, Wanigasinghe J, Xiong H, Griggs R, Roy B. Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability. Neurology Clinical Practice 2023, 14: e200224. PMID: 38107546, PMCID: PMC10723640, DOI: 10.1212/cpj.0000000000200224.Peer-Reviewed Original ResearchSurveyed health care providersProvider survey responsesHealth care providersSpinal muscular atrophyEconomic burdenNewborn screeningBarriers to treatmentMitigate such inequalitiesCare providersClinical careQualitative studyTreated patientsOutcome measuresMotor strengthGenetic testingSpinal muscular atrophy type 1Muscular atrophyProvidersSurvey responsesTreatment of spinal muscular atrophyLife-saving treatmentMuscle weaknessProgressive muscle weaknessNormal lifeTreatment costsChondromalacia patellae: Cartilaginous lesions of the patella in the setting of anterior knee pain
Levy B, Cossell C, Grimm N, Jimenez A, Bisson L. Chondromalacia patellae: Cartilaginous lesions of the patella in the setting of anterior knee pain. Journal Of Cartilage & Joint Preservation 2023, 3: 100096. DOI: 10.1016/j.jcjp.2022.100096.Peer-Reviewed Original ResearchAnterior knee painKnee painTreatment strategiesPresence of AKPLower extremity muscle weaknessCause of CPExtremity muscle weaknessSubsequent treatment strategiesBest treatment strategyNonoperative measuresCommon diagnosisInitial treatmentTreatment algorithmMuscle weaknessRecalcitrant casesExact etiologyFemale sexRisk factorsThorough literature searchPatellar maltrackingAdjunct modalityCartilaginous lesionsPainLiterature searchChondromalaciaP04 Taldefgrobep alfa: preclinical and clinical data supporting the phase 3 RESILIENT study in spinal muscular atrophy
Lair L, Qureshi I, Bechtold C, Heller L, Durham S, Campbell D, Marin J, Chen K, Coric V. P04 Taldefgrobep alfa: preclinical and clinical data supporting the phase 3 RESILIENT study in spinal muscular atrophy. Neuromuscular Disorders 2023, 33: s163. DOI: 10.1016/j.nmd.2023.07.381.Peer-Reviewed Original ResearchSpinal muscular atrophyMuscular atrophyClinical dataMuscle functionFlexor muscle functionMotor neuron lossRobust safety dataDownstream receptor signalingNon-ambulatory participantsAtrophic muscle fibersQuality of lifeSurvival motor neuron (SMN) proteinSMN upregulationMotor neuron geneNeuron lossMuscle weaknessSafety profileGastrocnemius weightPreclinical dataClinical studiesSafety dataMouse modelMuscle massNonclinical studiesMotor neuron proteinUncovering the Relationship Between Statins and Muscle Problems in the ELSA-Brasil MSK Cohort
Pedroso A, Barreto S, Telles R, Machado L, Haueisen Sander Diniz M, Duncan B, Figueiredo R. Uncovering the Relationship Between Statins and Muscle Problems in the ELSA-Brasil MSK Cohort. Cardiovascular Drugs And Therapy 2023, 38: 1409-1414. PMID: 37261675, DOI: 10.1007/s10557-023-07476-7.Peer-Reviewed Original ResearchConceptsFive-times-sit-to-standStatin useMSK cohortMuscle problemsELSA-BrasilMuscle painHandgrip testFive-times-sit-to-stand testDuration of statin treatmentSecondary analysisMultivariate logistic regression analysisBrazilian civil servantsLogistic regression analysisNo significant associationSelf-reported symptomsCross-sectional data analysisStatin treatmentEfficacy-effectiveness gapMuscle strengthHandgrip strengthHighest quintileMuscle groupsMuscle weaknessStatinsPainPrecision targeting of autoantigen-specific B cells in muscle-specific tyrosine kinase myasthenia gravis with chimeric autoantibody receptor T cells
Oh S, Mao X, Manfredo-Vieira S, Lee J, Patel D, Choi E, Alvarado A, Cottman-Thomas E, Maseda D, Tsao P, Ellebrecht C, Khella S, Richman D, O’Connor K, Herzberg U, Binder G, Milone M, Basu S, Payne A. Precision targeting of autoantigen-specific B cells in muscle-specific tyrosine kinase myasthenia gravis with chimeric autoantibody receptor T cells. Nature Biotechnology 2023, 41: 1229-1238. PMID: 36658341, PMCID: PMC10354218, DOI: 10.1038/s41587-022-01637-z.Peer-Reviewed Original ResearchConceptsMuscle‐specific tyrosine kinase myasthenia gravisReceptor T cellsB cellsT cellsMyasthenia gravisChimeric autoantibody receptor T cellsCD19 chimeric antigen receptor T cellsAutoantigen-specific B cellsChimeric antigen receptor T cellsAntigen receptor T cellsAnti-MuSK antibodiesB-cell depletionTotal IgG levelsClinical study designInvestigational new drug applicationChronic immunosuppressionIgG levelsMuscle weaknessAutoimmune diseasesCell depletionCurrent therapiesSimilar efficacyCytolytic activityMouse modelNew drug applications
2021
An 84-Year-Old Physician With Progressive Dyspnea and Bilateral Upper Lobe Opacities
Harris ZM, Antin-Ozerkis D. An 84-Year-Old Physician With Progressive Dyspnea and Bilateral Upper Lobe Opacities. CHEST Journal 2021, 159: e325-e329. PMID: 33965157, DOI: 10.1016/j.chest.2020.12.035.Peer-Reviewed Original ResearchConceptsProgressive exertional dyspneaNumbness/tinglingLong-term medicationProximal muscle weaknessParoxysmal atrial fibrillationLifelong nonsmokersNaproxen 250Progressive dyspneaDry coughExertional dyspneaNight sweatsPulmonary clinicLumbar radiculopathySinus congestionSpinal stenosisAtrial fibrillationMuscle weaknessHashimoto's thyroiditisRecent travelMedical historyOlder physiciansWeight lossDyspneaThyroiditisPhysiciansSleep Breathing Disorders in Duchenne Muscular Dystrophy
Weiss P. Sleep Breathing Disorders in Duchenne Muscular Dystrophy. 2021, 225-234. DOI: 10.1007/978-3-030-57942-5_21.Peer-Reviewed Original ResearchProgressive respiratory muscle weaknessAbnormal sleep studyAggressive airway clearanceSymptoms of hypoventilationRespiratory muscle weaknessMaximal inspiratory pressureSleep breathing disordersBody mass indexDuchenne muscular dystrophyAwake SpO2Glucocorticoid therapyCorticosteroid useRespiratory failureAirway clearanceMass indexMechanical ventilationBreathing disordersInspiratory pressureMuscle weaknessVital capacitySleep studiesMajor causeThird decadeMuscular dystrophyHypoventilation
2020
Acute flaccid myelitis: cause, diagnosis, and management
Murphy O, Messacar K, Benson L, Bove R, Carpenter J, Crawford T, Dean J, DeBiasi R, Desai J, Elrick M, Farias-Moeller R, Gombolay G, Greenberg B, Harmelink M, Hong S, Hopkins S, Oleszek J, Otten C, Sadowsky C, Schreiner T, Thakur K, Van Haren K, Carballo C, Chong P, Fall A, Gowda V, Helfferich J, Kira R, Lim M, Lopez E, Wells E, Yeh E, Pardo C, group A, Salazar-Camelo A, Mithal D, Wilson-Murphy M, Bauer A, Watkins C, Abzug M, Dominguez S, Press C, Yang M, Ahsan N, Ramos-Platt L, Tiongson E, Seruya M, Tilton A, Katz E, Kirschen M, Shah A, Ulloa E, Yum S, Mondok L, Blaufuss M, Rosenfeld A, Vargas W, Zucker J, Yeshokumar A, Navis A, Chao K, Hagen K, Melicosta M, Porter C, Tunney M, Scheuermann R, Duggal P, Pekosz A, Bayliss A, Moore M, Belzberg A, Bembea M, O'Brien C, Riggs R, Nance J, Milstone A, Rice J, Garcia-Dominguez M, Flanagan E, Tillema J, Bosques G, Bhatia S, Gordon-Lipkin E, Deike D, Revivo G, Zlotolow D, deFiebre G, Lazerow P, Lotze T, Bitnun A, Davidge K, Vajsar J, Moore A, Konersman C, Nash K, Strober J, Gupta N, Chiu C, Sweeney M, Jackson W, Simon D, Thakkar K, Cheng J, Luce J, Das S, Vogt M, Vu N, Gofshteyn J, Makhani N, Patel P. Acute flaccid myelitis: cause, diagnosis, and management. The Lancet 2020, 397: 334-346. PMID: 33357469, PMCID: PMC7909727, DOI: 10.1016/s0140-6736(20)32723-9.Peer-Reviewed Original ResearchConceptsAcute flaccid myelitisNon-polio enterovirus infectionMajor public health challengeAcute neurological illnessCerebrospinal fluid characteristicsPolio-like illnessSubstantial residual disabilityProfound muscle weaknessLong-term outcomesTargeted therapeutic approachesPublic health challengeLong-term rehabilitationResidual disabilityAcute phaseClinical featuresClinical presentationEnterovirus infectionImmunological featuresMuscle weaknessNeurological illnessTherapeutic approachesHost-virus interactionsPathogen factorsHealth challengesDiagnosisAtypical case of Miller-Fisher syndrome presenting with severe dysphagia and weight loss
Patel K, Nussbaum E, Sico J, Merchant N. Atypical case of Miller-Fisher syndrome presenting with severe dysphagia and weight loss. BMJ Case Reports 2020, 13: e234316. PMID: 32467120, PMCID: PMC7259814, DOI: 10.1136/bcr-2020-234316.Peer-Reviewed Case Reports and Technical NotesConceptsMiller Fisher syndromeAtypical casesLower extremity muscle weaknessWeight lossExtremity muscle weaknessFormal swallow evaluationThorough neurological examinationResolution of symptomsAlbuminocytological dissociationIntravenous immunoglobulinPresenting symptomProgressive dysphagiaSevere dysphagiaSwallow evaluationSymptom onsetExtraocular movementsNeurological examinationMuscle weaknessPhysical examinationAntibody titresDysphagiaCerebrospinal fluidGait stabilityPatientsSyndromeFactors Associated With Insidious and Noninsidious Disability
Gill TM, Murphy TE, Gahbauer EA, Leo-Summers L, Han L. Factors Associated With Insidious and Noninsidious Disability. The Journals Of Gerontology Series A 2020, 75: 2125-2129. PMID: 31907523, PMCID: PMC7566549, DOI: 10.1093/gerona/glaa002.Peer-Reviewed Original ResearchConceptsRisk factorsIllness/injuryInsidious disabilityLower extremity muscle weaknessNon-Hispanic white raceExtremity muscle weaknessCommunity-living personsEmergency department visitsPoor manual dexterityCox analysisDepartment visitsMultivariable analysisDisability outcomesMuscle weaknessWhite raceDaily livingCognitive impairmentBivariate analysisType of disabilityManual dexterityDisabilityInjuryOutcomesModest differencesDifferent mechanisms
2019
Characterization of pathogenic monoclonal autoantibodies derived from muscle-specific kinase myasthenia gravis patients
Takata K, Stathopoulos P, Cao M, Mané-Damas M, Fichtner ML, Benotti ES, Jacobson L, Waters P, Irani SR, Martinez-Martinez P, Beeson D, Losen M, Vincent A, Nowak RJ, O’Connor K. Characterization of pathogenic monoclonal autoantibodies derived from muscle-specific kinase myasthenia gravis patients. JCI Insight 2019, 4: e127167. PMID: 31217355, PMCID: PMC6629167, DOI: 10.1172/jci.insight.127167.Peer-Reviewed Original ResearchConceptsMyasthenia gravisMonoclonal autoantibodiesNeuromuscular junctionMuscle-specific tyrosine kinaseMuSK-MG patientsChronic autoimmune disorderMyasthenia gravis patientsSubset of patientsMouse neuromuscular junctionHuman monoclonal autoantibodiesMuSK autoantibodiesAutoimmune mechanismsGravis patientsMG patientsMost patientsPathogenic autoantibodiesAutoimmune disordersMuscle weaknessNeuromuscular transmissionMuSK phosphorylationAutoantibodiesB cellsAcetylcholine receptorsSynaptic differentiationPatientsAtypical presentation of necrotising autoimmune myopathy
Ajiboye O, Manesh M, Asmi N, Mba B. Atypical presentation of necrotising autoimmune myopathy. BMJ Case Reports 2019, 12: e229119. PMID: 31142488, PMCID: PMC6557363, DOI: 10.1136/bcr-2018-229119.Peer-Reviewed Original ResearchConceptsProximal muscle weaknessAutoimmune myopathyStatin useAtypical presentationMuscle weaknessSymmetrical proximal muscle weaknessElevated creatine kinase levelsNecrotising autoimmune myopathySevere oropharyngeal dysphagiaCreatine kinase levelsCase of statinsSevere quadriparesisInitial presentationOropharyngeal dysphagiaHistological findingsMyocyte necrosisRemote historyRapid progressionAutoimmune antibodiesIrritable myopathyKinase levelsHigh indexRare diseaseRemarkable inflammationPresentation patternsPulmonary Health and Healthy Aging
Clark B, Roeder N, Akgün K. Pulmonary Health and Healthy Aging. 2019, 81-92. DOI: 10.1007/978-3-030-06200-2_8.ChaptersLung functionLung diseaseOlder adultsAvoidance of smokingChronic lung diseaseLung cancer screeningSkeletal muscle weaknessPulmonary agingAirway functionRespiratory symptomsPulmonary healthMuscle weaknessLung healthCancer screeningMucociliary clearanceWeight managementPhysical activityScarring processProper dietExact causeHealthy agingEnvironmental exposuresElastic recoilAgeLung
2017
Joint Trajectories of Cognition and Frailty and Associated Burden of Patient-Reported Outcomes
Liu Z, Han L, Gahbauer EA, Allore HG, Gill TM. Joint Trajectories of Cognition and Frailty and Associated Burden of Patient-Reported Outcomes. Journal Of The American Medical Directors Association 2017, 19: 304-309.e2. PMID: 29146224, PMCID: PMC6054444, DOI: 10.1016/j.jamda.2017.10.010.Peer-Reviewed Original ResearchConceptsPatient-reported outcomesNursing home admissionException of hospitalizationMini-Mental State ExaminationFrailty groupHome admissionCumulative burdenSlower cognitive declineCognitive frailtyCognitive declineProgressive frailtyCommunity-living older personsGreater burdenJoint trajectory groupsHigh cumulative burdenCommunity-living personsIncidence density rateLow physical activitySlow walking speedTrajectory groupsEquation Poisson modelsRapid cognitive declineDistinct joint trajectoriesFried phenotypeMuscle weaknessMotor Neuron Disease
Roy B, Darras B. Motor Neuron Disease. 2017, 199-220. DOI: 10.1007/978-3-319-61361-1_16.Peer-Reviewed Original ResearchNon-5q spinal muscular atrophySpinal muscular atrophyMotor neuronsSurvival motor neuronCompound motor action potential amplitudeProximal 5q SMAMotor action potential amplitudeMotor axon lossAction potential amplitudeMotor neuron diseaseSpinal motor neuronsProgressive muscle weaknessAutosomal recessive disorderHereditary degenerative disordersAxon lossImportant diagnostic toolMuscle weaknessNeuron diseaseClinical severityNeurogenic natureDisease prognosisAtypical casesPotential amplitudeMuscular atrophyDegenerative disordersAnimal Model of Amyotrophic Lateral Sclerosis
Koshal P, Kumar M, Jamwal S, Bansal P. Animal Model of Amyotrophic Lateral Sclerosis. 2017, 277-289. DOI: 10.1007/978-981-10-5981-0_18.Peer-Reviewed Original ResearchAmyotrophic lateral sclerosisMotor neuronsLateral sclerosisMuscle performancePatients of ALSPrevalence of ALSCases of ALSDepletion of neuronsUpper motor neuronsLower motor neuronsFamilial amyotrophic lateral sclerosisInvolvement of neuronsLou Gehrig's diseaseALS-dementiaCerebral cortexMuscle weaknessSubstantia nigraBrain stemDisease progressionSpinal cordMuscle atrophyAnimal modelsAverage ageCognitive impairmentNeurodegenerative disorders
2016
Cranial nerve involvement in Charcot–Marie–Tooth Disease
Das N, Kandalaft S, Wu X, Malhotra A. Cranial nerve involvement in Charcot–Marie–Tooth Disease. Journal Of Clinical Neuroscience 2016, 37: 59-62. PMID: 27884603, DOI: 10.1016/j.jocn.2016.10.049.Peer-Reviewed Original ResearchConceptsCranial nerve involvementNerve involvementTooth diseaseCharcot-MarieFacial muscle weaknessSpinal nerve rootsSkull base foraminaGroup of disordersForms of HMSNNerve findingsRight medianClinical featuresClinical presentationCauda equineDisease involvementMuscle weaknessNerve rootsSymmetric enlargementTrigeminal neuralgiaTrigeminal nerveFacial nervePes cavusEmergency roomAbsent responseRare disorder
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