2016
Familial gain-of-function Nav1.9 mutation in a painful channelopathy
Han C, Yang Y, Morsche R, Drenth JP, Politei JM, Waxman SG, Dib-Hajj SD. Familial gain-of-function Nav1.9 mutation in a painful channelopathy. Journal Of Neurology Neurosurgery & Psychiatry 2016, 88: 233. PMID: 27503742, DOI: 10.1136/jnnp-2016-313804.Peer-Reviewed Original ResearchConceptsPain disordersPainful small fiber neuropathyDorsal root ganglion neuronsSmall fiber neuropathyPotential therapeutic targetVoltage-clamp recordingsFunction mutationsPain symptomsGastrointestinal disturbancesGanglion neuronsClinical examinationHyperpolarising shiftFunctional assessmentTherapeutic targetDistal extremitiesPhenotypic spectrumElectrophysiological recordingsPatientsBlood relativesFirst arginine residuePainAcceleration of activationSegment 4ChannelopathiesDisordersBilateral cleft foot: Radiographic and prenatal ultrasound features of two siblings with a review of literature
Durmaz M, Demirtaş H, Hattapoğlu S, Kara T, Göya C, Adin M. Bilateral cleft foot: Radiographic and prenatal ultrasound features of two siblings with a review of literature. Medicina 2016, 52: 257-261. PMID: 27515833, DOI: 10.1016/j.medici.2016.07.003.Peer-Reviewed Case Reports and Technical NotesConceptsFoot deformitySecond trimester ultrasoundPrenatal ultrasound featuresFoot malformationCongenital developmental defectsRadiography findingsReview of literatureUS findingsUltrasound featuresRoutine examinationDistal extremitiesMalformationsDeformityUltrasoundExtremitiesPresent studyDetection rateDevelopmental defectsFootSyndromeFindingsA painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels
Rolyan H, Liu S, Hoeijmakers JG, Faber CG, Merkies IS, Lauria G, Black JA, Waxman SG. A painful neuropathy-associated Nav1.7 mutant leads to time-dependent degeneration of small-diameter axons associated with intracellular Ca2+ dysregulation and decrease in ATP levels. Molecular Pain 2016, 12: 1744806916674472. PMID: 27821467, PMCID: PMC5102167, DOI: 10.1177/1744806916674472.Peer-Reviewed Original ResearchConceptsSmall fiber neuropathySmall-diameter axonsTime-dependent degenerationDorsal root ganglion neuronsNerve fiber injuryNervous system disordersPrevious clinical reportsIntracellular calcium levelsMutant Nav1.7 channelsATP levelsAδ nerve fibersHigh altitude sicknessPainful neuropathyTime-dependent increaseFiber injuryClinical onsetGanglion neuronsOxygen species productionSystem disordersCalcium levelsClinical reportsDistal extremitiesIntracellular Ca2NeuropathyNav1.7 channels
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
2007
A case of inherited erythromelalgia
Novella SP, Hisama FM, Dib-Hajj SD, Waxman SG. A case of inherited erythromelalgia. Nature Reviews Neurology 2007, 3: 229-234. PMID: 17410110, DOI: 10.1038/ncpneuro0425.Peer-Reviewed Original ResearchConceptsLaboratory blood testingMRI brain scansNeuropathic painSymptomatic managementNeurological examinationRecurrent episodesBlood testingMedical historySkin biopsiesFamily historyDistal extremitiesBrain scansSimilar symptomsGenetic counselingEarly childhoodPainEpisodesErythromelalgiaBiopsyErythemaSymptomsExtremitiesDNA analysis
2005
Successful cyclosporine treatment for atopic dermatitis in a rhesus macaque (Macaca mulatta).
Ovadia S, Wilson SR, Zeiss CJ. Successful cyclosporine treatment for atopic dermatitis in a rhesus macaque (Macaca mulatta). Journal Of The American Association For Laboratory Animal Science 2005, 55: 192-6. PMID: 15884783.Peer-Reviewed Original ResearchConceptsAtopic dermatitisSkin conditionsRhesus macaquesMonths of treatmentHistory of allergyInflammatory skin conditionFemale rhesus macaquesSuccessful therapeutic agentsCyclosporine treatmentOral cyclosporineImmunological injuryCalcineurin inhibitorsChronic courseImmunomodulatory drugsMetabolic abnormalitiesClinical evidenceLymphocyte functionSuccessful treatmentComplete hemogramDifferential diagnosisNormal limitsSuccessful therapyInguinal regionAllergic dermatitisDistal extremities
1990
Figurate and Bullous Eruption in Association With Breast Carcinoma
Watsky K, Orlow S, Bolognia J. Figurate and Bullous Eruption in Association With Breast Carcinoma. JAMA Dermatology 1990, 126: 649-652. PMID: 2185696, DOI: 10.1001/archderm.1990.01670290093016.Peer-Reviewed Case Reports and Technical NotesConceptsOral administrationHigh-dose oral administrationIntraductal mammary carcinomaMinimal inflammatory infiltrateLower lamina lucidaType of lesionPrednisone therapyCutaneous eruptionBullous eruptionInflammatory infiltrateImmune depositsSubepidermal blistersBreast carcinomaLinear depositionMammary carcinomaDirect immunofluorescenceRadiation therapyDermoepidermal junctionDistal extremitiesFurther evaluationIndirect immunofluorescenceLesionsCarcinomaTherapyLamina lucida
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