2020
Genotype–Phenotype Correlations in Children with HHT
Kilian A, Latino GA, White AJ, Clark D, Chakinala MM, Ratjen F, McDonald J, Whitehead K, Gossage JR, Lin D, Henderson K, Pollak J, McWilliams JP, Kim H, Lawton MT, Faughnan ME, . Genotype–Phenotype Correlations in Children with HHT. Journal Of Clinical Medicine 2020, 9: 2714. PMID: 32842615, PMCID: PMC7565052, DOI: 10.3390/jcm9092714.Peer-Reviewed Original ResearchBrain vascular malformationsHereditary hemorrhagic telangiectasiaPulmonary arteriovenous malformationsGenotype-phenotype correlationVascular malformationsArteriovenous malformationsHHT patientsCentral nervous systemRare autosomal dominant diseaseChi-square testAutosomal dominant diseaseGastrointestinal bleedingPediatric patientsMucocutaneous telangiectasiaHemorrhagic telangiectasiaGreater prevalenceNervous systemPatientsPhenotypic presentationDominant diseaseMalformationsAdultsChildrenTelangiectasiaMutations
2015
Hemorrhage Rates From Brain Arteriovenous Malformation in Patients With Hereditary Hemorrhagic Telangiectasia
Kim H, Nelson J, Krings T, terBrugge K, McCulloch C, Lawton M, Young W, Faughnan M, Chakinala M, Gossage J, Henderson K, Iyer V, Kasthuri R, Lin D, Mager J, McWilliams J, McDonald J, Pawlikowska L, Pollak J, Ratjen F, Swanson K, Vethanayagam D, White A, White R, Wilcox P. Hemorrhage Rates From Brain Arteriovenous Malformation in Patients With Hereditary Hemorrhagic Telangiectasia. Stroke 2015, 46: 1362-1364. PMID: 25858236, PMCID: PMC4415515, DOI: 10.1161/strokeaha.114.007367.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAneurysm, RupturedChildChild, PreschoolCohort StudiesFemaleHumansInfantInfant, NewbornIntracranial Arteriovenous MalformationsIntracranial HemorrhagesMaleMiddle AgedRecurrenceRetrospective StudiesSocioeconomic FactorsSurvival AnalysisTelangiectasia, Hereditary HemorrhagicYoung AdultConceptsHereditary hemorrhagic telangiectasiaBrain arteriovenous malformationsICH rateArteriovenous malformationsHemorrhage rateHemorrhagic telangiectasiaHigher ICH ratesIntracranial hemorrhage rateMajority of patientsICH presentationSymptomatic casesSystemic diseaseICH eventsMean ageAsymptomatic screeningMucocutaneous telangiectasiaHHT patientsHigh riskUnruptured casesPatientsMalformationsDiagnosisTelangiectasiaRehemorrhageEpistaxis
2012
The Young's Procedure for Severe Epistaxis from Hereditary Hemorrhagic Telangiectasia
Richer SL, Geisthoff UW, Livada N, Ward PD, Johnson L, Mainka A, Henderson KJ, Maune S, White RI, Ross DA. The Young's Procedure for Severe Epistaxis from Hereditary Hemorrhagic Telangiectasia. American Journal Of Rhinology And Allergy 2012, 26: 401-404. PMID: 23168156, DOI: 10.2500/ajra.2012.26.3809.Peer-Reviewed Original ResearchConceptsHereditary hemorrhagic telangiectasiaSevere epistaxisYoung's procedureHemorrhagic telangiectasiaGlasgow Benefit Inventory scoreTransfusion-dependent patientsComplete cessationHHT CenterMost patientsSurgical treatmentPostoperative epistaxisSurgical closurePatient outcomesEfficacious procedureSubjective outcomesEpistaxisPatientsMean increaseSevere ironInventory scoresLaser proceduresCessationOutcomesTreatmentTelangiectasia
2011
Reproducibility of Oxygen Saturation Monitoring During Six-Minute Walk Test and Exercise Stress Test in Patients with Pulmonary Arteriovenous Malformations Associated With Hereditary Hemorrhagic Telangiectasia
Li W, Niu B, Henderson K, Northrup V, Pollak JS, Trow T, Fahey J, White RI. Reproducibility of Oxygen Saturation Monitoring During Six-Minute Walk Test and Exercise Stress Test in Patients with Pulmonary Arteriovenous Malformations Associated With Hereditary Hemorrhagic Telangiectasia. Pediatric Cardiology 2011, 32: 590-594. PMID: 21336824, DOI: 10.1007/s00246-011-9917-8.Peer-Reviewed Original ResearchConceptsPulmonary arteriovenous malformationsHereditary hemorrhagic telangiectasiaOxygen saturationHeart rateWalk testArteriovenous malformationsHemorrhagic telangiectasiaSix-minute walk testOxygen saturation monitoringLowest oxygen saturationYears of ageHuman Investigation CommitteeStress testIntraclass correlation coefficientAnatomic subtypesExercise capacityMultiple complicationsPatientsAdjunct testSaturation monitoringAdequate restReproducible measureMalformationsTelangiectasiaBroad spectrum
2008
Long‐term complications of septal dermoplasty in patients with hereditary hemorrhagic telangiectasia
Levine CG, Ross DA, Henderson KJ, Leder SB, White RI. Long‐term complications of septal dermoplasty in patients with hereditary hemorrhagic telangiectasia. Otolaryngology 2008, 138: 721-724. PMID: 18503842, DOI: 10.1016/j.otohns.2008.01.005.Peer-Reviewed Original ResearchConceptsHereditary hemorrhagic telangiectasiaSeptal dermoplastyQuality of lifeHemorrhagic telangiectasiaConsecutive retrospective studyLong-term complicationsLife-threatening epistaxisTreatment of choiceNasal odorConsecutive patientsSinus infectionRetrospective studySense of smellDermoplastyPatientsEpistaxisPotential patientsComplicationsPhone interviewsImproved qualityTelangiectasiaInfection
2005
Enteroscopic Evaluation of the Gastrointestinal Tract in Symptomatic Patients With Hereditary Hemorrhagic Telangiectasia
Proctor DD, Henderson KJ, Dziura JD, Longacre AV, White RI. Enteroscopic Evaluation of the Gastrointestinal Tract in Symptomatic Patients With Hereditary Hemorrhagic Telangiectasia. Journal Of Clinical Gastroenterology 2005, 39: 115-119. PMID: 15681905, DOI: 10.1097/01.mcg.0000150193.15978.f9.Peer-Reviewed Original ResearchConceptsHereditary hemorrhagic telangiectasiaStomach/duodenumHemorrhagic telangiectasiaGastrointestinal bleedingNumber of telangiectasesSymptomatic adult patientsCross-sectional studyAutosomal dominant diseaseDistal stomachSymptomatic patientsAdult patientsMedian numberIndividual patientsGastrointestinal tractPatientsTelangiectasesDuodenumJejunal onesJejunumLarger telangiectasesStomachDominant diseaseBleedingAnemiaTelangiectasia