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
2008
Hormonal Therapy for the Treatment of Gastrointestinal Bleeding in Hereditary Hemorrhagic Telangiectasia
Proctor DD, Henderson KJ, Dziura JD, White RI. Hormonal Therapy for the Treatment of Gastrointestinal Bleeding in Hereditary Hemorrhagic Telangiectasia. Journal Of Clinical Gastroenterology 2008, 42: 756-757. PMID: 18496387, DOI: 10.1097/mcg.0b013e318032391f.Peer-Reviewed Original Research
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
2003
Diagnosis and Management of Gastrointestinal Bleeding in Patients With Hereditary Hemorrhagic Telangiectasia
Longacre AV, Gross CP, Proctor D, Henderson KJ, Gallitelli M, White R. Diagnosis and Management of Gastrointestinal Bleeding in Patients With Hereditary Hemorrhagic Telangiectasia. The American Journal Of Gastroenterology 2003, 98: 59. PMID: 12526937, DOI: 10.1111/j.1572-0241.2003.07185.x.Peer-Reviewed Original ResearchConceptsBlood transfusion requirementsHereditary hemorrhagic telangiectasiaTransfusion requirementsGI bleedingMean HbDrug therapyHHT patientsHemorrhagic telangiectasiaEthinyl estradiol/norethindroneHigher blood transfusion requirementsIndividual patient basisLower mean HbGastrointestinal bleedingMean followRed blood cellsConsecutive patientsEndoscopic treatmentSignificant bleedingMean ageClinical evaluationBleedingPatient basisPatientsOptimal managementAminocaproic acid