2018
Applicability of the Curaçao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population
Pahl KS, Choudhury A, Wusik K, Hammill A, White A, Henderson K, Pollak J, Kasthuri RS. Applicability of the Curaçao Criteria for the Diagnosis of Hereditary Hemorrhagic Telangiectasia in the Pediatric Population. The Journal Of Pediatrics 2018, 197: 207-213. PMID: 29655863, DOI: 10.1016/j.jpeds.2018.01.079.Peer-Reviewed Original Research
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
Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations
Nishida T, Faughnan ME, Krings T, Chakinala M, Gossage JR, Young WL, Kim H, Pourmohamad T, Henderson KJ, Schrum SD, James M, Quinnine N, Bharatha A, terBrugge KG, White RI. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: Gene–phenotype correlations. American Journal Of Medical Genetics Part A 2012, 158A: 2829-2834. PMID: 22991266, PMCID: PMC3610331, DOI: 10.1002/ajmg.a.35622.Peer-Reviewed Original ResearchMeSH KeywordsActivin Receptors, Type IIAdolescentAdultAgedAntigens, CDArteriovenous FistulaChildChild, PreschoolEndoglinFemaleGenetic Association StudiesHumansInfantInfant, NewbornIntracellular Signaling Peptides and ProteinsIntracranial Arteriovenous MalformationsMaleMiddle AgedMutationReceptors, Cell SurfaceSmad4 ProteinTelangiectasia, Hereditary HemorrhagicYoung AdultConceptsBrain arteriovenous malformationsHereditary hemorrhagic telangiectasiaHistory of ICHIntracranial hemorrhageArteriovenous malformationsMean ageVascular malformationsHemorrhagic telangiectasiaMultiple brain arteriovenous malformationsAutosomal dominant genetic diseaseDominant genetic diseaseGenetic test resultsAVM characteristicsClinical manifestationsAVM diagnosisPatientsInitial examinationMultiple organsLarger studyACVRL1 mutationsENG mutationsMalformationsAgeSignificant differencesManifestations
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