Een verrassende oorzaak van dyspneu: Rendu-Osler-Weber
Sign Up to like & getrecommendations! Published in 2019 at "Huisarts en wetenschap"
DOI: 10.1007/s12445-019-0025-y
Abstract: SamenvattingEr komt een patiënte op het spreekuur die last heeft van inspanningsdyspneu en pijn op de borst. De huisarts denkt aan een cardiale oorzaak. Toch is er iets anders aan de hand, want er zijn… read more here.
Keywords: rendu osler; osler weber; van; een verrassende ... See more keywords
Multiple Pulmonary and Hepatic Arteriovenous Malformations in a Patient With Rendu-Osler-Weber Disease.
Sign Up to like & getrecommendations! Published in 2018 at "Archivos de bronconeumologia"
DOI: 10.1016/j.arbres.2018.10.013
Abstract: ∗ Corresponding author. E-mail address: [email protected] (H. Ogul). Osler-Weber-Rendu is an autosomal dominant disease. It is characterized by multiple mucocutaneous telangiectasias, recurrent epistaxis, and visceral arteriovenous malformations. Vascular structures of the lung and gastrointestinal tract… read more here.
Keywords: rendu osler; weber disease; osler weber; arteriovenous malformations ... See more keywords
Multidisciplinary coordinated care of hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu disease)
Sign Up to like & getrecommendations! Published in 2023 at "Vascular Medicine"
DOI: 10.1177/1358863x231151731
Abstract: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease, is a rare disorder with a case prevalence as high as one in 5000, causing arteriovenous malformations in multiple organ systems. HHT is familial with autosomal… read more here.
Keywords: disease; osler weber; hemorrhagic telangiectasia; hereditary hemorrhagic ... See more keywords
Spontaneous regression of an intramural bladder haematoma in a patient with Osler-Weber-Rendu syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Urology"
DOI: 10.1177/2051415818757360
Abstract: A 48-year-old woman presented with the chief complaint of chronic cystitis. She was referred to our hospital when a pelvic nodule was detected on abdominal ultrasonography. She had a history of recurrent epistaxis, and examination… read more here.
Keywords: bladder; rendu syndrome; haematoma; osler weber ... See more keywords
Hereditary hemorrhagic telangiectasia, liver disease and elevated serum testosterone (Osler–Weber–Rendu syndrome): a case report
Sign Up to like & getrecommendations! Published in 2017 at "BMC Research Notes"
DOI: 10.1186/s13104-017-2397-z
Abstract: AbstractBackground A Sri Lankan girl with hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) is described.Case presentationShe presented with recurrent spontaneous epistaxis, pulmonary arterio venous malformation and oral telangiectasia. A diagnosis of Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) was… read more here.
Keywords: hereditary hemorrhagic; telangiectasia; rendu syndrome; osler weber ... See more keywords
Identification of a Novel ACVRL1 Gene Mutation (c.100T>A, p.Cys34Ser) in a Japanese Patient with Possible Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease).
Sign Up to like & getrecommendations! Published in 2020 at "Acta medica Okayama"
DOI: 10.18926/amo/58276
Abstract: Hereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu disease) is an autosomal dominant genetic disorder that causes frequent epistaxis, mucocutaneous telangiectasia, and visceral arteriovenous malformations. Four genes (ENG, ACVRL1, SMAD4, and GDF2) have been identified… read more here.
Keywords: osler weber; hereditary hemorrhagic; weber rendu; hemorrhagic telangiectasia ... See more keywords