Results 11 to 20 of about 4,853 (149)

Liver cirrhosis in a patient with hepatic hereditary hemorrhagic telangiectasia and Budd–Chiari syndrome: a case report

BMC Gastroenterology, 2020
Background Hereditary hemorrhagic telangiectasia (HHT) often involves the liver, and belongs to abnormal blood vessel disease. The etiology of Budd–Chiari syndrome (BCS) is not clear, but congenital vascular dysplasia is considered to be one of the ...
Bai-Guo Xu, Jing Liang, Ke-Feng Jia, Tao Han   +3 more
doaj   +1 more source

Hereditary hemorrhagic telangiectasia associated with inherited thrombophilia [PDF]

Vojnosanitetski Pregled, 2017
Introduction. Hereditary hemorrhagic telangiectasia and inherited thrombophilia are genetic disorders with quite opposite clinical manifestation. The main characteristic for hereditary hemorrhagic telangiectasia is recurrent bleeding, while the ...
Roganović Branka, Obradović Slobodan, Micić Aleksandar, Petrović Stanko   +3 more
doaj   +1 more source

Autologous correction in patient induced pluripotent stem cell-endothelial cells to identify a novel pathogenic mutation of hereditary hemorrhagic telangiectasia

Pulmonary Circulation, 2020
Hereditary hemorrhagic telangiectasia is a rare disease with autosomal dominant inheritance. More than 80% hereditary hemorrhagic telangiectasia patients carry heterozygous mutations of Endoglin or Activin receptor-like kinase-1 genes.
Fang Zhou, Xiuli Zhao, Xiu Liu, Yanyan Liu, Feng Ma, Bao Liu, Jun Yang   +6 more
doaj   +1 more source

Genetic Diagnosis of Hereditary Hemorrhagic Telangiectasia: Four Novel Pathogenic Variations in Turkish Patients

Balkan Medical Journal, 2020
Aims:Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by telangiectasia, epistaxis, and vascular malformations. Pathogenic mutations were found in ENG, AVCRL1, SMAD4, and GDF genes.
Mehmet Baysal, Selma Demir, Elif G. Ümit, Hakan Gürkan, Volkan Baş, Sedanur Karaman Gülsaran, Ufuk Demirci, Hakkı Onur Kırkızlar, Ahmet Muzaffer Demir   +8 more
doaj   +1 more source

Hereditary hemorrhagic telangiectasia

Dermatology Online Journal, 2005
A 45-year-old man with hereditary hemorrhagic telangiectasia (HHT) presented with numerous mucocutaneous telangiectases, recurrent nosebleeds, and several first degree relatives with similar symptoms. HHT has been linked to mutations in the genes endoglin and activin receptor-like kinase-1 (ALK-1), which are located on chromosome 9q33-34 and 12q13 ...
Alfonso, Pérez del Molino, Roberto, Zarrabeitia, Africa, Fernández   +2 more
openaire   +6 more sources

Telangiectasia hemorrágica hereditária: uma causa rara de anemia grave Hereditary hemorrhagic telangiectasia: a rare cause of severe anemia

Jornal Brasileiro de Pneumologia, 2007
Telangiectasia hemorrágica hereditária é uma doença autossômica dominante na qual comunicações arteriovenosas afetam comumente pele, superfícies mucosas, pulmões, cérebro e trato gastrointestinal.
José Wellington Alves dos Santos, Tiago Chagas Dalcin, Kelly Ribeiro Neves, Keli Cristina Mann, Gustavo Luis Nunes Pretto, Alessandra Naimaier Bertolazi   +5 more
doaj   +1 more source

Mobile Mitral and Aortic Valvular Masses in Patients With Hereditary Hemorrhagic Telangiectasia Receiving Intravenous Bevacizumab

Mayo Clinic Proceedings: Innovations, Quality & Outcomes, 2020
Bevacizumab is now an emerging treatment option for severe hereditary hemorrhagic telangiectasia–related bleeding including epistaxis and gastrointestinal tract bleeding.
Hasan Ahmad Albitar, MD, Yahya Almodallal, MBBS, Rick Nishimura, MD, Vivek N. Iyer, MD, MPH   +3 more
doaj   +1 more source

Splenic Involvement in Hereditary Hemorrhagic Telangiectasia

Case Reports in Medicine, 2016
A 33-year-old man who presented with prolonged epigastric pain was referred to our hospital. He had experienced recurrent epistaxis and had a family history of hereditary hemorrhagic telangiectasia.
Susumu Takamatsu, Kota Sato, Shunsuke Kato, Hiroto Nagano, Shunro Ohtsukasa, Yasuyuki Kawachi   +5 more
doaj   +1 more source

Stroke in hereditary hemorrhagic telangiectasia patients. New evidence for repeated screening and early treatment of pulmonary vascular malformations: two case reports

BMC Neurology, 2011
Background Paradoxical embolism due to pulmonary arteriovenous malformations is the main mechanism of brain infarction in patients with hereditary hemorrhagic telangiectasia.
Viader Fausto, Babin Emmanuel, Cogez Julien, Ribeiro Espartaco, Defer Gilles   +4 more
doaj   +1 more source

Malformações arteriovenosas pulmonares – Associação a telangiectasia hemorrágica hereditária. Casos clínicos e rastreio familiar

Revista Portuguesa de Pneumologia, 2006
Resumo: As malformações arteriovenosas pulmonares são raras e mais de metade dos casos surgem em associação a telangiectasia hemorrágica hereditária.Faz-se uma revisão teórica sobre a apresentação clínica, abordagem diagnóstica, terapêutica
Diva Ferreira, Joana Amado, Raquel Duarte, José Almeida, Paulo Morgado, Teresa Shiang   +5 more
doaj   +1 more source