2020
Impact of depressive symptoms on self-perceived severity of autonomic dysfunction in multiple system atrophy: relevance for patient-reported outcomes in clinical trials
Martinez J, Palma JA, Norcliffe-Kaufmann L, Garakani A, Kaufmann H. Impact of depressive symptoms on self-perceived severity of autonomic dysfunction in multiple system atrophy: relevance for patient-reported outcomes in clinical trials. Clinical Autonomic Research 2020, 30: 215-221. PMID: 32246226, PMCID: PMC7341538, DOI: 10.1007/s10286-020-00681-6.Peer-Reviewed Original ResearchConceptsMultiple system atrophyOrthostatic Hypotension QuestionnaireSymptoms of depressionOrthostatic hypotensionAutonomic dysfunctionDepressive symptomsSelf-perceived severityAutonomic symptomsSystem atrophyDepression scoresOHQ scoresOrthostatic blood pressure fallUnified MSA Rating ScaleProbable multiple system atrophyComposite Autonomic Symptom ScoreBlood pressure fallResultsFifty-eight patientsSystolic blood pressureZung depression scorePatient-reported outcomesAutonomic symptom scoreClinical trial designMultivariable regression modelsQuality of lifeConclusionsIn patients
2014
A case of progressive multifocal leukoencephalopathy in a lupus patient treated with belimumab
Fredericks C, Kvam K, Bear J, Crabtree G, Josephson. A case of progressive multifocal leukoencephalopathy in a lupus patient treated with belimumab. Lupus 2014, 23: 711-713. PMID: 24531080, DOI: 10.1177/0961203314524292.Peer-Reviewed Original ResearchConceptsProgressive multifocal leukoencephalopathySystemic lupus erythematosusMultifocal leukoencephalopathyAutoantibody-positive systemic lupus erythematosusDevelopment of PMLMild systemic lupus erythematosusTrials of belimumabProgressive neurologic declineFatal adverse effectsSoluble B lymphocyte stimulatorB lymphocyte stimulatorB cell maturationJCV PCRLupus patientsNeurologic declineSymptom onsetAutonomic symptomsLupus erythematosusT2 hyperintensityAutoimmune diseasesStandard treatmentBelimumabWhite matterEpisodic dystoniaCareful monitoring
2012
Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy
Han C, Hoeijmakers JG, Liu S, Gerrits MM, Morsche R, Lauria G, Dib-Hajj SD, Drenth JP, Faber CG, Merkies IS, Waxman SG. Functional profiles of SCN9A variants in dorsal root ganglion neurons and superior cervical ganglion neurons correlate with autonomic symptoms in small fibre neuropathy. Brain 2012, 135: 2613-2628. PMID: 22826602, DOI: 10.1093/brain/aws187.Peer-Reviewed Original ResearchConceptsDorsal root ganglion neuronsSevere autonomic dysfunctionSmall fiber neuropathySuperior cervical ganglion neuronsSympathetic ganglion neuronsAutonomic dysfunctionGanglion neuronsDorsal root gangliaAutonomic symptomsRoot gangliaSmall-diameter peripheral axonsSensory dorsal root gangliaSuperior cervical ganglionPeripheral nervous systemChannel slow inactivationDetectable changeNeuropathic painSCN9A geneCervical ganglionSympathetic neuronsPeripheral axonsNeuropathyPatientsDistal extremitiesNervous system
2011
Nonmotor manifestations of dystonia: A systematic review
Kuyper DJ, Parra V, Aerts S, Okun MS, Kluger BM. Nonmotor manifestations of dystonia: A systematic review. Movement Disorders 2011, 26: 1206-1217. PMID: 21484874, PMCID: PMC3652664, DOI: 10.1002/mds.23709.Peer-Reviewed Original ResearchSomatic and autonomic small fiber neuropathy induced by bortezomib therapy: an immunofluorescence study
Giannoccaro M, Donadio V, Gomis Pèrez C, Borsini W, Di Stasi V, Liguori R. Somatic and autonomic small fiber neuropathy induced by bortezomib therapy: an immunofluorescence study. Neurological Sciences 2011, 32: 361-363. PMID: 21290160, DOI: 10.1007/s10072-010-0475-2.Peer-Reviewed Original ResearchConceptsSmall fiber neuropathySensory axonal neuropathySkin nerve fibersMajor side effectsNew chemotherapeutic agentsMeans of immunofluorescencePostural dizzinessAutonomic neuropathyBortezomib therapyAutonomic symptomsUrinary disturbanceMultiple myelomaAxonal neuropathyBortezomib treatmentNerve fibersSide effectsNeuropathyChemotherapeutic agentsImmunofluorescence studiesSmall fibersBortezomibTreatmentIleusDizzinessSyncopeIntra- and Interfamily Phenotypic Diversity in Pain Syndromes Associated with a Gain-of-Function Variant of NaV1.7
Estación M, Han C, Choi JS, Hoeijmakers J, Lauria G, Drenth J, Gerrits MM, Dib-Hajj SD, Faber CG, Merkies I, Waxman SG. Intra- and Interfamily Phenotypic Diversity in Pain Syndromes Associated with a Gain-of-Function Variant of NaV1.7. Molecular Pain 2011, 7: 1744-8069-7-92. PMID: 22136189, PMCID: PMC3248882, DOI: 10.1186/1744-8069-7-92.Peer-Reviewed Original ResearchConceptsParoxysmal extreme pain disorderSmall fiber neuropathyDorsal root gangliaInherited ErythromelalgiaPain syndromeFunction variantsTrigeminal ganglionIdiopathic small fiber neuropathySevere facial painQuantitative sensory testingSympathetic ganglion neuronsDifferent clinical presentationsSodium channel Nav1.7Distal painNeuropathic painFacial painAutonomic symptomsDRG neuronsPain disordersClinical presentationClinical pictureSyndrome AssociatedGanglion neuronsRoot gangliaSkin biopsies
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