Bum-Yong Kang, Jiwoong Choi, Victor Tseng, Yutong Zhao, Jing Zhao, Robert S. Stearman, Wilbur A. Lam, Viranuj Sueblinvong, Benjamin T. Kopp, Michael J. Passineau, Changwon Park, John Lister, Raymond J. Benza, Andrew J. JangEmory University School of Medicine. Atlanta Veterans Healthcare System. University of Kansas School of Medicine and University of Kansas. Ansible Health. Ohio […]
Saniye Girit, Ebru Senol, Özge Karatas, Ayse Inci YıldırımIstanbul Medeniyet University. Göztepe Training and Research Hospital. University of Health Sciences Medical School Dr. Lutfi Kırdar Kartal Educational and Research Hospital. University of Health Sciences Medical School Kartal Kosuyolu High Speciality Educational and Research Hospital.Turkey Respiratory Medicine Case ReportsRespir Med Case Rep 2020; 30: DOI: 10.1016/j.rmcr.2020.101137 AbstractPulmonary
Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations Read More »
Jinrong Liu, Jigang Yang, Xiaolei Tang, Huimin Li, Yuelin Shen, Weiyue Gu, Shunying ZhaoBeijing Children’s Hospital, National Center for Children’s Health and Capital Medical University. Beijing Friendship Hospital. Beijing Chigene Translational Medicine Research Center.China PediatricsPediatrics 2020; DOI: 10.1542/peds.2019-1970 AbstractHereditary hemorrhagic telangiectasia (HHT) can be clinically diagnosed, but children often lack characteristic features. We report a family
Homozygous GDF2-Related Hereditary Hemorrhagic Telangiectasia in a Chinese Family Read More »
Ryan W. England, Clifford R. WeissJohns Hopkins Hospital.United States Radiology Case ReportsRadiol Case Rep 2020; 15: 1759-1763DOI: 10.1016/j.radcr.2020.07.026 AbstractHereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu syndrome) is an inherited vascular disorder with a spectrum of clinical manifestations depending on lesion distribution. Epistaxis, mucocutaneous telangiectasia, and gastrointestinal bleeding are most common. Patients with pulmonary arteriovenous malformations
Pulmonary arteriovenous malformation in a pediatric patient with epistaxis and hypoxemia Read More »
Liu Jinrong, Liu Hui, Wang Bei, Zhang Yuhe, Xu Hui, Tang Xiaolei, Li Huimin, Zhao ShunyingBeijing Children’s Hospital Affiliated to Capital Medical University and National Center for Children’s Health. Beijing Renhe Hospital.China Chinese Journal of PediatricsZhonghua Er Ke Za Zhi 2020; 58: 674-678DOI: 10.3760/cma.j.cn112140-20200415-00386 AbstractObjective: To analyze the clinical features of 2 children with hereditary hemorrhagic telangiectasia (HHT) and review relevant literature. Methods: The clinical data of
[Case report of hereditary hemorrhagic telangiectasia in children and literature review] Read More »
Alexandra Kilian, Giuseppe A. Latino, Andrew J. White, Dewi Clark, Murali M. Chakinala, Felix Ratjen, Jamie McDonald, Kevin J. Whitehead, James R. Gossage, Doris Lin, Katharine Henderson, Jeffrey Pollak, Justin P. McWilliams, Helen Kim, Michael T. Lawton, Marie E. Faughnan, the Brain Vascular Malformation Consortium HHT Investigator GroupSt. Michael’s Hospital and Li Ka Shing Knowledge
Genotype-Phenotype Correlations in Children with HHT Read More »
Sri L. Widjaja, Masayu L. Anniazi, Bagus Artiko, Annang G. Moelyo, Mylco T. AhmadwirawanUniversitas Sebelas Maret. Indonesia Narra JNarra J 2025; 5: DOI: 10.52225/narra.v5i1.1244 AbstractSeveral cellular markers have been identified as effective in detecting vascular remodeling recently. The reduced activity of bone morphogenetic protein receptor type-II (BMPR-II), commonly observed in Down syndrome, results in insufficient production
Yan Huang, Chen-Tao Liu, Xiang-Rong Zheng, Bo Dou, Rong HuangXiangya Hospital of Central South University.China Chinese Journal of Contemorary PediatricsZhongguo Dang Dai Er Ke Za Zhi 2020; 22: 1041-1042DOI: 10.7499/j.issn.1008-8830.2004196 AbstractThis article reports two children with hereditary hemorrhagic telangiectasia (HHT). Patient 1 was a boy aged 12 years and was admitted due to intermittent cough and
[Hereditary hemorrhagic telangiectasia: a report of two cases] Read More »
Yusuke Hashimoto, Koji Yokoyama, Hideki Kumagai, Yuko Okada, Takanori YamagataJichi Medical University.Japan Clinical Journal of GastroenterologyClin J Gastroenterol 2020; 13: 1096-1101DOI: 10.1007/s12328-020-01238-w AbstractJuvenile polyposis syndrome (JPS) and hereditary hemorrhagic telangiectasia (HHT) are both relatively rare hereditary disorders. Some patients with the SMAD4 gene mutation develop both JPS and HHT, a condition termed JPS-HHT. We herein report
Tendaishe T. Mutize, Riaz Y. Seedat, Johannes K. Ploos van Amstel, Johannes J. Mager, Stephen C. Brown, Fekade Gebremariam, Marius J. CoetzeeUniversity of the Free State nd Universitas Academic Hospital. Utrecht University. Shelly Beach Hospital. National Health Laboratory Service.South Africa and Netherlands Molecular Biology ReportsMol Biol Rep 2020; 47: 9967-9972DOI: 10.1007/s11033-020-05985-4 AbstractHereditary haemorrhagic telangiectasia (HHT) is
