2017
Novel clinical manifestations in patients with KCNA2 mutations
Sachdev M, Gaínza-Lein M, Tchapyjnikov D, Jiang YH, Loddenkemper T, Mikati MA. Novel clinical manifestations in patients with KCNA2 mutations. Seizure 2017, 51: 74-76. PMID: 28806589, DOI: 10.1016/j.seizure.2017.07.018.Peer-Reviewed Original ResearchConceptsGeneralized tonic-clonic seizuresTonic-clonic seizuresElectrical status epilepticusNovel clinical manifestationYear old maleStatus epilepticusKCNA2 mutationsClonic seizuresClinical manifestationsMyoclonic-astatic seizuresStatus epilepticus episodesYear old femaleYears of ageAstatic seizuresSeizure typesEpileptic manifestationsFocal seizuresPatient 1Patient 2Patient 3Clinical criteriaSevere manifestationsEpileptic encephalopathyBlood samplesPatients
2015
Adult Surgical Experience With Loeys-Dietz Syndrome
Williams JA, Hanna JM, Shah AA, Andersen ND, McDonald MT, Jiang YH, Wechsler SB, Zomorodi A, McCann RL, Hughes GC. Adult Surgical Experience With Loeys-Dietz Syndrome. The Annals Of Thoracic Surgery 2015, 99: 1275-1281. PMID: 25678502, DOI: 10.1016/j.athoracsur.2014.11.021.Peer-Reviewed Original ResearchMeSH KeywordsAdultAortic Aneurysm, ThoracicAortic DissectionCardiac Surgical ProceduresCohort StudiesFemaleHumansLoeys-Dietz SyndromeMaleMiddle AgedPostoperative ComplicationsPrognosisReoperationRetrospective StudiesRisk AssessmentSeverity of Illness IndexSurvival RateTreatment OutcomeVascular Surgical ProceduresYoung AdultConceptsLoeys-Dietz syndromeAortic pathologySurgical experienceAggressive treatment strategiesSingle referral institutionAortic root replacementVascular surgical interventionTotal aortic replacementLate deathsAcute typeAortic replacementInfectious complicationsAdult patientsLDS patientsRoot replacementImproved survivalSurgical treatmentReferral institutionVascular catastrophesSurgical interventionCerebrovascular pathologySpecific phenotypic featuresClinical criteriaNeurosurgical interventionTreatment strategies