Results 81 to 90 of about 3,300 (212)

Het platypneu-orthodeoxiesyndroom bij de geriatrische patiënt : presentatie, diagnostiek en therapie

, 2020
De ziektegeschiedenis van een 85-jarige vrouw met als klinische presentatie een triade van een longembolie, een ischemisch cerebrovasculair accident (CVA) en het platypneu-orthodeoxiesyndroom (POS) wordt beschreven.
Bultynck, Céline, De Smet, Sanne, Demuynck, Mathias, Desimpelaere, Patrick, Petrovic, Mirko   +4 more
core   +1 more source

Complications and clinical outcome of hepatic artery embolisation in patients with hereditary haemorrhagic telangiectasia [PDF]

, 2012
BACKGROUND: Hepatic artery embolisation (HAE) in patients with hereditary haemorrhagic telangiectasia (HHT) is controversial because of the associated complications and unproven long-term benefit.
Ajay Chavan, B. Schmuck, Hannelore Barg-Hock, Hans Seifert, Lars Luthe, Michael Gebel, Rudolph Raab, Timm Kirchhoff   +7 more
core   +1 more source

High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia

European Journal of Neurology, Volume 31, Issue 2, February 2024.
Abstract Background and purpose Hereditary haemorrhagic telangiectasia (HHT) is a genetic disease with fragile blood vessels and vascular malformations, potentially causing neurological manifestations, including stroke and cerebral abscesses. The study aimed to investigate neurological manifestations in the Danish HHT database, focusing on pulmonary ...
Mikkel Seremet Kofoed, Pernille M. Tørring, Alex Alban Christensen, Bibi Lange, Anette Drøhse Kjeldsen, Troels Halfeld Nielsen   +5 more
wiley   +1 more source

Endoglin mutants retained in the endoplasmic reticulum exacerbate loss of function in hereditary hemorrhagic telangiectasia type 1 (HHT1) by exerting dominant negative effects on the wild type allele

Traffic, Volume 25, Issue 1, January 2024.
The formation of heterodimers between ER‐retained endoglin mutants and WT endoglin impairs WT maturation and trafficking to the plasma membrane. Abstract Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder affecting 1 in 5000–8000 individuals.
Nesrin Gariballa, Sally Badawi, Bassam R. Ali   +2 more
wiley   +1 more source

A Rare Association: Hereditary Hemorrhagic Telangiectasia with Liver Cirrhosis Causing Portal Hypertension

Case Reports in Gastrointestinal Medicine, Volume 2024, Issue 1, 2024.
Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu–Osler–Weber syndrome, is a vascular disorder of autosomal dominant etiology. The hallmark clinical feature is the presence of recurrent episodes of epistaxis in patients with vascular malformations and a tendency to bleed.
Denisse Morales-Tovar, Froylan D. Martínez-Sánchez, Alejandro Gabutti-Thomas, Rodolfo Rivera-Martínez, Jacqueline Córdova-Gallardo, Yoshihiro Moriwaki   +5 more
wiley   +1 more source

Pulmonary arteriovenous fistula in the newborn: a case report of Rendu-Osler-Weber syndrome and a review of the literature

The Turkish Journal of Pediatrics, 2001
In most instances, congenital arteriovenous fistula is only one manifestation of a more widespread abnormality; 60% of patients also have hereditary hemorrhagic telangiectasis (Rendu-Osler-Weber syndrome).
R Olguntürk, D Oğuz, S Tunaoğlu, C Ikizler, A Sezgin, S Kula   +5 more
doaj  

Neurologic Manifestation as Initial Presentation in a Case of Hereditary Haemorrhagic Telangiectasia

Clinical Medicine Insights: Case Reports, 2010
Hereditary Haemorrhagic Telangiectasia (HHT), or Osler-Weber-Rendu syndrome is an uncommon autosomal dominant multi-organ condition of vascular dysplasias.
Yeow Kwan Teo, Ai Ching Kor
doaj   +1 more source

Exéresis de las lesiones hiperplásicas de la cavidad bucal: estudio retrospectivo de 128 casos [PDF]

, 2005
Objetivos: Este trabajo pretende, en base a nuestra experiencia, valorar y discutir las indicaciones, ventajas e inconvenientes de la exéresis de los épulis de la cavidad bucal con el láser de dióxido de carbono (CO2) respecto al láser de Erbio:YAG (Er ...
Berini Aytés, Leonardo, Delgado Molina, Esther, Gay Escoda, Cosme, Tamarit Borrás, Meritxell   +3 more
core   +1 more source

Ponatinib in patients with refractory acute myeloid leukaemia: findings from a phase 1 study [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/99099/1/bjh12382 ...
Bixby, Dale, Clackson, Tim, Cortes, Jorge E., Deininger, Michael W. N., Flinn, Ian W., Gozgit, Joseph M., Haluska, Frank G., Kantarjian, Hagop, Lustgarten, Stephanie, Mauro, Michael J., Shah, Neil P., Talpaz, Moshe, Turner, Christopher D.   +12 more
core   +1 more source

Rendu-Osler-Weber syndrome: A family investigation and review

Journal of Indian Academy of Oral Medicine and Radiology, 2009
Rendu-Osler-Weber syndrome is a rare genetic condition characterized by mucocutaneous and visceral fibrovascular dysplasia leading to multiple macular or papular vascular lesions of skin, mucosal surfaces and occasionally viscera that show tendency ...
V G Mahima, Karthikeya Patil, Madhur Kapoor, Shalini Kalia   +3 more
doaj   +1 more source