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 differencesManifestationsThe 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
2009
International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia
Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. Journal Of Medical Genetics 2009, 48: 73. PMID: 19553198, DOI: 10.1136/jmg.2009.069013.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsStructured consensus processGuideline processDiagnosis of HHTGuidelines Working GroupLife-threatening hemorrhageHealth care workersHereditary haemorrhagic telangiectasiaOvid MEDLINE databasesConsensus processSignificant arteriovenous malformationsAutosomal dominant diseaseSymptomatic diseaseSystematic search strategyWorking GroupConsensus guidelinesArteriovenous malformationsEvidence tablesClinic staffGuideline conferenceHealth care administratorsGastrointestinal tractAvailable screeningCare workersGuideline methodologistsMEDLINE database