Results 81 to 90 of about 1,710,432 (184)

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

Osler-Weber-Rendu Syndrome - Dental Implications [PDF]

, 2009
Osler-Weber-Rendu syndrome (OWRS) is a rare hereditary, autosomal dominant disease characterized by a local angiodysplasia. Its clinical characteristics are vascular hamartomas of the skin and oral mucosa, arteriovenous malformations in the lungs, liver,
MAGALHAES, Marina Helena, SANTOS, Paulo Sergio da Silva, FERNANDES, Karin Sa   +2 more
core  

Osler-Weber-Rendu disease: A rare cause of recurrent hemoptysis

, 2016
Osler-Weber-Rendu disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant condition causing systemic fibrovascular dysplasia. It has an incidence of 1-2/100,000. Phenotypic variation is extreme ranging from asymptomatic
Omkar V Kajale, Dheeraj L Jain, Rahul K Jalan, Amir M Khoja   +3 more
core   +1 more source

Hereditary hemorrhagic teleangiectasis (Rendu-Osler-Weber Syndrome) as cause for stomach hemmorrhage - case report [PDF]

, 2009
U radu je prikazan sedamdesetcetverogodišnji bolesnik s krvarenjem iz probavnog trakta i posljedicnom sideropenicnom anemijom vjetovanom Rendu-Osler-Weber-ovom bolešcu.
Zvonimir Glumpak, Dominiković, Anto, Zlatko Mihaldinec, Anto Dominiković, Glumpak, Zvonimir, Mihaldinec, Zlatko   +5 more
core   +1 more source

Angiomatosis in Klippel-Trenaunay -Weber Syndrome - Report of a rare Case

Journal of Indian Academy of Oral Medicine and Radiology, 2006
Hemangioma is an abnormal proliferation of blood vessels that may occur in any vascularized tissue. Considerable debate exists as to whether these lesions are neoplasms, hamartomas, or vascular malformations.
G S Kodhandarama, B S Manjunatha, D Nagarajappa   +2 more
doaj  

[A visceral form of Rendu-Osler-Weber syndrome].

Terapevticheskii arkhiv, 1985
A case of a visceral pattern (with primary liver injury) of the Rendu-Osler-Weber disease is described with emphasis on the diagnostic difficulties due to the absence of external symptoms of disease and hemorrhage. Stress is laid on the importance of making liver biopsy in the diagnosis of this pattern of teleangioectatic disease.
A S, Loginov, T N, Sakharova, V D, Tkachev, S D, Shepeleva, L I, Aruin   +4 more
openaire   +1 more source

An update on the ophthalmic features in hereditary haemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). [PDF]

Int Ophthalmol, 2022
Abdolrahimzadeh S, Formisano M, Marani C, Rahimi S.   +3 more
europepmc   +1 more source

A case of hereditary hemorrhagic telangiectasia treated with cryotherapy

Journal of Cosmetic Dermatology, Volume 23, Issue 5, Page 1929-1930, May 2024.
Su‐Ying Wen, Ya‐Yun Huang
wiley   +1 more source

Case Report of Osler-Weber-Rendu Syndrome with Incidentally Detected Ipsilateral Renal Adnexal Agenesis

Osler-Weber-Rendu Syndrome, also known as hereditary hemorrhagic telangiectasia, is an autosomal dominant disease characterized by the presence of vascular telangiectasias in the skin and mucosa.
Tarhan, Mustafa Oktay
core   +1 more source