Patient-recorded benefit from nasal closure in a Danish cohort of patients with hereditary haemorrhagic telangiectasia
Sign Up to like & getrecommendations! Published in 2019 at "European Archives of Oto-Rhino-Laryngology"
DOI: 10.1007/s00405-019-05758-1
Abstract: Background Nasal closure, also known as the modified Young’s procedure was introduced in Denmark in 2008, as a surgical solution to severe epistaxis in patients with hereditary haemorrhagic telangiectasia (HHT). The objective of this study was to report… read more here.
Keywords: closure; hereditary haemorrhagic; haemorrhagic telangiectasia; patients hereditary ... See more keywords
Minimal portosystemic encephalopathy: A new nosological entity in patients with hereditary haemorrhagic telangiectasia.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of internal medicine"
DOI: 10.1016/j.ejim.2021.04.026
Abstract: BACKGROUND Portosystemic shunts in Hereditary Haemorrhagic Telangiectasia (HHT) are often overlooked by conventional imaging although they could reduce hepatic clearance of gut-derived toxins. AIMS To evaluate, the presence of subclinical neurological alterations (SNAs), that we… read more here.
Keywords: portosystemic encephalopathy; hereditary haemorrhagic; minimal portosystemic; mpse ... See more keywords
Hereditary haemorrhagic telangiectasia: A disease not to be forgotten during the COVID‐19 pandemic
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Thrombosis and Haemostasis"
DOI: 10.1111/jth.14885
Abstract: From November 2019 to date, almost six thousand papers have been published on COVID-19, the disease caused by SARS-CoV-2 infection. As physicians working in a multidisciplinary centre for the cure of Hereditary Haemorrhagic Telangiectasia (HHT)… read more here.
Keywords: telangiectasia; disease; hereditary haemorrhagic; haemorrhagic telangiectasia ... See more keywords
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-108766
Abstract: Background and aims Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant condition characterised by recurrent epistaxis, telangiectatic lesions in the skin and mucosal membranes, and arteriovenous malformations (AVMs) in various organs. In 3%–5% of patients,… read more here.
Keywords: hereditary haemorrhagic; danish patients; nationwide study; hht ... See more keywords
Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Medical Genetics"
DOI: 10.1136/jmg-2022-109107
Abstract: Background EPHB4 loss of function is associated with type 2 capillary malformation–arteriovenous malformation syndrome, an autosomal dominant vascular disorder. The phenotype partially overlaps with hereditary haemorrhagic telangiectasia (HHT) due to epistaxis, telangiectases and cerebral arteriovenous… read more here.
Keywords: hereditary haemorrhagic; like hepatic; hht; haemorrhagic telangiectasia ... See more keywords
Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia
Sign Up to like & getrecommendations! Published in 2022 at "Thorax"
DOI: 10.1136/thoraxjnl-2021-218332
Abstract: Pulmonary arteriovenous malformations (PAVMs) result in preventable complications demanding specialty care. Underlying hereditary haemorrhagic telangiectasia (HHT) can be identified by genetic testing, if the diagnosis is considered. Retrospectively reviewing 152 unrelated adults with genetically confirmed… read more here.
Keywords: hereditary haemorrhagic; genetically confirmed; arteriovenous malformations; pulmonary arteriovenous ... See more keywords
European Reference Network For Rare Vascular Diseases (VASCERN) Outcome Measures For Hereditary Haemorrhagic Telangiectasia (HHT)
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DOI: 10.1186/s13023-018-0850-2
Abstract: Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia that leads to nosebleeds, anaemia due to blood loss, and arteriovenous malformations (AVMs) in organs such as the lungs, liver and brain. HHT is estimated to… read more here.
Keywords: outcome measures; hht; hereditary haemorrhagic; haemorrhagic telangiectasia ... See more keywords
Successful treatment of hereditary haemorrhagic telangiectasia using 595-nm pulsed dye laser
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DOI: 10.1684/ejd.2017.3144
Abstract: EJD, vol. 27, n◦ 6, November-December 2017 rate is high. Recent case reports showed that complete resolution of EAE could be achieved with ultraviolet B therapy and systemic antimalarial therapy [2, 7, 8]. In conclusion,… read more here.
Keywords: successful treatment; treatment; hereditary haemorrhagic; haemorrhagic telangiectasia ... See more keywords
An update on preclinical models of hereditary haemorrhagic telangiectasia: Insights into disease mechanisms
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Medicine"
DOI: 10.3389/fmed.2022.973964
Abstract: Endoglin (ENG) is expressed on the surface of endothelial cells (ECs) where it efficiently binds circulating BMP9 and BMP10 ligands to initiate activin A receptor like type 1 (ALK1) protein signalling to protect the vascular… read more here.
Keywords: hereditary haemorrhagic; disease; alk1; preclinical models ... See more keywords
Pulmonary Arterial Hypertension and Hereditary Haemorrhagic Telangiectasia
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DOI: 10.3390/ijms19103203
Abstract: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterised by multisystemic vascular dysplasia. Heritable pulmonary arterial hypertension (HPAH) is a rare but severe complication of HHT. Both diseases can be the result of… read more here.
Keywords: pulmonary arterial; haemorrhagic telangiectasia; arterial hypertension; hereditary haemorrhagic ... See more keywords
Nasal closure for severe hereditary haemorrhagic telangiectasia in 100 patients. The Lund modification of the Young's procedure: a 22-year experience.
Sign Up to like & getrecommendations! Published in 2017 at "Rhinology"
DOI: 10.4193/rhin16.315
Abstract: INTRODUCTION Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease characterized by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. The nosebleeds can be life-threatening and in these circumstances, radical treatment is required. METHODS… read more here.
Keywords: nasal closure; hereditary haemorrhagic; haemorrhagic telangiectasia; closure ... See more keywords