Results 21 to 30 of about 21,378 (292)

A rare clinical case of the patient with pulmonary hypertension associated with hereditary hemorrhagic telangiectasia. Case report [PDF]

Терапевтический архив, 2022
The article describes a rare clinical case of the patient with pulmonary hypertension associated with hereditary hemorrhagic telangiectasia and discusses the issues of the treatment choice of these patients.
Anna M. Kasparova, Zarina S. Valieva, Tamila V. Martynyuk   +2 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

Ischaemic strokes in patients with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia: associations with iron deficiency and platelets. [PDF]

, 2014
25/03/14 meb. OA paper , Ok to add.Background: Pulmonary first pass filtration of particles marginally exceeding ~7 µm (the size of a red blood cell) is used routinely in diagnostics, and allows cellular aggregates forming or entering the circulation in ...
John A Livesey, Michael A. Laffan (367175), Tighe Hannah C., Richard Manning (524799), James E Jackson, James E. Jackson (524802), Gillian Angus, Tighe, HC, Meek John, Jackson James E., Gillian Angus (367169), Claire L Shovlin, Livesey, J, Basel Chamali (524796), John A. Livesey (524798), Hannah C. Tighe (524801), Laffan, MA, Basel Chamali, Vatshalan Santhirapala (524797), Jackson, JE, Meek, J, Chamali Basel, Manning Richard, Chamali, B, Michael A Laffan, Hannah C Tighe, Claire L. Shovlin (367168), Manning, R, Livesey John A., Shovlin, CL, Angus Gillian, Santhirapala, V, Santhirapala Vatshalan, John Meek, Shovlin Claire L., Vatshalan Santhirapala, Richard Manning, Laffan Michael A., John Meek (524800)   +38 more
core   +1 more source

Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. [PDF]

, 2003
BACKGROUND\ud \ud Mutations of the transforming growth factor beta (TGFbeta) receptor components ENDOGLIN and ALK-1 cause the autosomal dominant vascular disorder hereditary haemorrhagic telangiectasia (HHT).
Flanagan, J A, Gruenig, E, Sankelo, M, Halme, M, Elliott, C G, Laitinen, T, Morrell, N W, Trembath, R C, Räisänen-Sokolowski, A, Olschewski, H, Harrison, R E, Robbins, I M, Kermeen, F, Abdalla, S A, Rowell, J, Machado, R D, McLaughlin, V   +16 more
core   +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

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

Imaging of Hereditary Hemorrhagic Telangiectasia [PDF]

CardioVascular and Interventional Radiology, 2008
This pictorial review is based on our experience of the follow-up of 120 patients at our multidisciplinary center for hereditary hemorrhagic telangiectasia (HHT). Rendu-Osler-Weber disease or HHT is a multiorgan autosomal dominant disorder with high penetrance, characterized by epistaxis, mucocutaneous telangiectasis, and visceral arteriovenous ...
Carette, Marie-France, Nedelcu, Cosmina, Tassart, Marc, Grange, Jean-Didier, Wislez, Marie, Khalil, Antoine   +5 more
openaire   +2 more sources

Angiogenesis, hereditary hemorrhagic telangiectasia and COVID-19

, 2020
Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal-dominant disease characterized by pathologic angiogenesis that provokes vascular overgrowth.
López-Wolf, Daniel, Riera-Mestre, Antoni, Moreno, Manuela, Del Castillo, Raul, Iriarte, Adriana   +4 more
core   +1 more source

Arterial oxygen content is precisely maintained by graded erythrocytotic responses in settings of high/normal serum iron levels, and predicts exercise capacity: an observational study of hypoxaemic patients with pulmonary arteriovenous malformations. [PDF]

, 2014
01/04/14 MEB.
Hannah C Tighe, Tighe Hannah C., Williams Louisa C., James E Jackson, Shovlin, CL, Santhirapala, V, Santhirapala Vatshalan, Williams, LC, Tighe, HC, Jackson James E., Claire L Shovlin, Shovlin Claire L., Vatshalan Santhirapala, Jackson, JE, Louisa C Williams   +14 more
core   +1 more source

Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management

, 2022
Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a dominantly inheritable rare disease with a prevalence of 1:5000–10,000 inhabitants [...
Cuesta M. Angel, Angel Cuesta, Angel, Cuesta M.   +2 more
core   +1 more source