2019
1414. Time-to-Completed-Imaging, Survival, and Function in Patients with Spinal Epidural Abscess: Description of a Series of 34 Patients, 2015–2018
King C, Fisher C, Brown P, Priest K, Tanski M, Sullivan P. 1414. Time-to-Completed-Imaging, Survival, and Function in Patients with Spinal Epidural Abscess: Description of a Series of 34 Patients, 2015–2018. Open Forum Infectious Diseases 2019, 6: s515-s515. PMCID: PMC6808760, DOI: 10.1093/ofid/ofz360.1278.Peer-Reviewed Original ResearchSpinal epidural abscessIntravenous drug useDrug useEpidural abscessMean timeAbnormal neurologic examinationRetrospective cohort studySingle academic health centerLife-threatening infectionsMulti-center approachShorter mean timeFrequency of interventionsMotor weaknessBladder dysfunctionCohort studyClassic triadNeurologic examinationBack painSignificant morbidityEmergency departmentRisk factorsSingle hospitalHealth centersQuality improvement workPrior history
2017
The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis
Tan Q, McConkie-Rosell A, Juusola J, Gustafson KE, Pizoli CE, Buckley AF, Jiang YH. The importance of managing the patient and not the gene: expanded phenotype of GLE1-associated arthrogryposis. Molecular Case Studies 2017, 3: a002063. PMID: 28729373, PMCID: PMC5701308, DOI: 10.1101/mcs.a002063.Peer-Reviewed Original ResearchConceptsAnterior horn cell diseaseCell diseasePathogenic variantsMotor neuron diseaseBiallelic missense mutationsSpinal muscular atrophyWhole-exome sequencingMotor weaknessRespiratory supportRespiratory difficultyNeuron diseaseMotor phenotypePerinatal periodPrenatal symptomsContracture syndromeMuscle biopsySevere formFetal akinesiaMuscular atrophyDiseaseMRNA exportLethal arthrogryposisTranslation initiationPerinatal lethalityArthrogryposis
2015
Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing
Shashi V, Petrovski S, Schoch K, Crimian R, Case LE, Khalid R, El-Dairi MA, Jiang YH, Mikati MA, Goldstein DB. Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing. Molecular Case Studies 2015, 1: a000265. PMID: 27148562, PMCID: PMC4850881, DOI: 10.1101/mcs.a000265.Peer-Reviewed Original ResearchWhole-exome sequencingTherapeutic responseImmediate clinical responseSustained therapeutic responseProgressive neurological conditionMotor weaknessClinical responseMedical managementFatal conditionCase reportSensory ataxiaBrown-VialettoProgressive conditionNeurological conditionsDisease processSyndrome 2Patient careAccurate diagnosisRiboflavin therapyVision impairmentTherapyPromising outcomesDiagnosisChildrenReport
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