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hereditary haemorrhagic telangiectasia

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https://www.readbyqxmd.com/read/27897192/pi3-kinase-inhibition-improves-vascular-malformations-in-mouse-models-of-hereditary-haemorrhagic-telangiectasia
#1
Roxana Ola, Alexandre Dubrac, Jinah Han, Feng Zhang, Jennifer S Fang, Bruno Larrivée, Monica Lee, Ana A Urarte, Jan R Kraehling, Gael Genet, Karen K Hirschi, William C Sessa, Francesc V Canals, Mariona Graupera, Minhong Yan, Lawrence H Young, Paul S Oh, Anne Eichmann
Activin receptor-like kinase 1 (ALK1) is an endothelial serine-threonine kinase receptor for bone morphogenetic proteins (BMPs) 9 and 10. Inactivating mutations in the ALK1 gene cause hereditary haemorrhagic telangiectasia type 2 (HHT2), a disabling disease characterized by excessive angiogenesis with arteriovenous malformations (AVMs). Here we show that inducible, endothelial-specific homozygous Alk1 inactivation and BMP9/10 ligand blockade both lead to AVM formation in postnatal retinal vessels and internal organs including the gastrointestinal (GI) tract in mice...
November 29, 2016: Nature Communications
https://www.readbyqxmd.com/read/27876060/20-year-follow-up-study-of-danish-hht-patients-survival-and-causes-of-death
#2
Anette Kjeldsen, Katrine Saldern Aagaard, Pernille Mathiesen Tørring, Sören Möller, Anders Green
BACKGROUND: Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutations are found in HHT1 (ENG) and HHT2 (ACVRL1) patients, causing alterations in the TGF-β pathway which is responsible for angiogenesis. Modulations of angiogenesis may influence cancer rates. The objective of the study was to evaluate 20-year survival according to HHT subtype, as well as to evaluate differences in causes of death comparing HHT patients and controls...
November 22, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27864873/hereditary-haemorrhagic-telangiectasia-to-transplant-or-not-to-transplant-is-there-a-right-time-for-liver-transplantation
#3
Yannick D Muller, Roland Oppliger, Romain Breguet, Philippe Meyer, Laura Rubbia-Brandt, Pierre-Auguste Petignat, Thomas Harr, Eric Dayer, Jörg D Seebach
BACKGROUND & AIMS: Hereditary haemorrhagic telangiectasia is characterized by arterio-venous malformations (AVM). It frequently involves the liver without clinical symptoms, but may lead to biliary ischaemia, portal hypertension, or fatal high-output heart failure. The indication of liver transplantation is controversial. METHODS: Herein, we report the case of a 65-year-old female patient with a 'double Osler syndrome' consisting of hereditary haemorrhagic telangiectasia (HHT) and type I hereditary angioedema diagnosed at the age of 25 and 22 years respectively...
December 2016: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/27864871/hereditary-haemorrhagic-telangiectasia-to-transplant-or-not-to-transplant
#4
Carlo Sabbà
The Association of hereditary hemorrhagic telangiectasia (HHT) and type I hereditary angioedema is a very rare condition in medicine. The case reported by Muller et al., describes the coexistence of the two diseases and emphasizes the need for listing HHT patients for liver transplantation in case indications occurs, such as the presence of HCC, abnormally increased cardiac output, and gastrointestinal bleeding as reported for this case. The case described by Mueller et al. is anecdotal for the usefulness of liver transplantation in HHT patients and shows that liver transplantation may be the best supportive care and, sometimes, the unique and final therapeutic option for these patients...
December 2016: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/27812780/pulmonary-arteriovenous-malformations-embolized-using-a-micro-vascular-plug-system-technical-note-on-a-preliminary-experience
#5
Eanuele Boatta, Christine Jahn, Matthieu Canuet, Julien Garnon, Nitin Ramamurthy, Roberto Luigi Cazzato, Afshin Gangi
AIM: To report our preliminary experience using a Micro Vascular Plug (MVP) deployed through a 2.8Fr micro-catheter for the treatment of pulmonary arteriovenous malformations (PAVMs) in a cohort of patients affected by Hereditary Haemorrhagic Telangiectasia (HHT). MATERIALS AND METHODS: Four consecutive female patients (mean age 38.0 years; range 25-55 years) with PAVMs diagnosed on echocardiogram/bubble test and contrast-enhanced CT (CECT) underwent MVP embolization...
November 3, 2016: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/27730189/embolisation-of-pavms-reported-to-improve-nosebleeds-by-a-subgroup-of-patients-with-hereditary-haemorrhagic-telangiectasia
#6
Claire L Shovlin, Trishan Patel, James E Jackson
Pulmonary AVM embolisation appears to improve nosebleed severity for nearly one in six people with HHT http://ow.ly/4mJqip.
April 2016: ERJ Open Research
https://www.readbyqxmd.com/read/27528761/regulation-of-the-alk1-ligands-bmp9-and-bmp10
#7
REVIEW
Wei Li, Richard M Salmon, He Jiang, Nicholas W Morrell
Bone morphogenetic protein (BMP)9 and BMP10 are high affinity ligands for activin receptor-like kinase 1 (ALK1), a type I BMP receptor mainly expressed on vascular endothelial cells (ECs). ALK1-mediated BMP9/BMP10 signalling pathways have emerged as essential in EC biology and in angiogenesis. Several genetic mutations in the genes encoding the ligands and receptors of this pathway have been reported in two cardiovascular diseases, pulmonary arterial hypertension (PAH) and hereditary haemorrhagic telangiectasia (HHT)...
August 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27424345/-hereditary-haemorrhagic-telangiectasia-importance-of-a-multidisciplinary-approach
#8
Françoise Boehlen, Basile N Landis, Laurent Spahr, Anne-Lise Hachulla, Emmanuelle Ranza, Thierry Nouspikel, Frédéric Lador, Kaveh Samii, Stéphane Noble
The Rendu-Osler-Weber disease, also known as hereditary haemorrhagic telangiectasia, is an autosomal dominant inherited disease. Its main manifestations are nosebleeds and digestive tract bleeding due to angiodysplasia. The presence of arteriovenous malformations in organs such as lung, liver, brain, etc. can cause serious complications (haemorrhage, stroke, brain abscess, hypoxemia, increased cardiac output, pulmonary arterial hypertension). Diagnosis is based on clinical criteria and can be confirmed by genetic analysis...
May 25, 2016: Revue Médicale Suisse
https://www.readbyqxmd.com/read/27377139/screening-for-arteriovenous-malformations-in-hereditary-haemorrhagic-telangiectasia
#9
S Jervis, D Skinner
OBJECTIVE: To determine whether patients with hereditary haemorrhagic telangiectasia were being screened according to international guidelines, and to review recent evidence in order to provide up-to-date guidelines for the initial systemic management of hereditary haemorrhagic telangiectasia. METHODS: A retrospective case note analysis was conducted, assessing patients in terms of screening for: genetics, cerebral arteriovenous malformations, pulmonary and hepatic arteriovenous malformations, and gastrointestinal telangiectasia...
August 2016: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/27334289/ischaemic-stroke-in-a-21-year-old-with-hereditary-haemorrhagic-telangiectasia
#10
Ingrid Kane, Alexandra Pitt Ford, Kirsty Lawton, Marius Poitelea, Nicola Gainsborough
A 21-year-old man presented with an acute ischaemic stroke. He had a history of epistaxis and a family history of hereditary haemorrhagic telangiectasia. We gave thrombolysis after some deliberation, and he made a good neurological recovery. This case highlights the link between hereditary haemorrhagic telangiectasia and ischaemic stroke, the potential risks of thrombolysis in such patients and the need to consider pulmonary arteriovenous malformations in patients with stroke.
October 2016: Practical Neurology
https://www.readbyqxmd.com/read/27334082/-a-pregnant-patient-with-spontaneous-haemothorax-hereditary-haemorrhagic-telangiectasia-in-pregnancy
#11
S M Mourad, R Mies, T Frenzel, S Willems, E van der Heijden, L J Schultze Kool
BACKGROUND: The incidence of hereditary haemorrhagic telangiectasia (HHT - Osler-Weber-Rendu disease) in the Netherlands is 1:5000 but approximately 1:1300 in people from the Antilles. The disease is characterised by the development of telangiectasia and arteriovenous malformations (AVMs) that may result in serious morbidity and mortality. CASE DESCRIPTION: A 31-year-old primigravid patient consulted her general practitioner at 31 1/7 weeks gestational age with dyspnoea...
2016: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/27246076/how-to-follow-up-patients-with-hereditary-haemorrhagic-telangiectasia-and-suspected-pulmonary-arteriovenous-malformations
#12
EDITORIAL
Thierry Chinet
No abstract text is available yet for this article.
June 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/27195194/dietary-supplement-use-and-nosebleeds-in-hereditary-haemorrhagic-telangiectasia-an-observational-study
#13
Basel Chamali, Helen Finnamore, Richard Manning, Michael A Laffan, Mary Hickson, Kevin Whelan, Claire L Shovlin
Understanding potential provocations of haemorrhage is important in a range of clinical settings, and particularly for people with abnormal vasculature. Patients with hereditary haemorrhagic telangiectasia (HHT) can report haemorrhage from nasal telangiectasia in real time, and suggested dietary factors may precipitate nosebleeds. To examine further, nosebleed severity, dietary supplement use, and blood indices were evaluated in an unselected group of 50 HHT patients recruited from a specialist UK service. Using the validated Epistaxis Severity Score, nosebleed severity ranged from 0 to 9...
May 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27126092/osler-weber-rendu-syndrome-an-anaesthetic-challenge
#14
Diana Chieira, Luis Conceição, Edgar Semedo, Valentina Almeida
Osler-Weber-Rendu syndrome, or hereditary haemorrhagic telangiectasia (HHT), is an autosomal dominant vascular dysplasia characterised by mucocutaneous telangiectases and arteriovenous malformations (AVMs). Diagnosis is clinical and treatment is supportive. The authors demonstrate a safe anaesthetic approach for a patient with HHT. A 53-year-old woman with a left trochanteric fracture was scheduled for urgent orthopaedic surgery. She was diagnosed as having HHT and presented with recurrent epistaxis, telangiectases and gastrointestinal AVMs...
April 28, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27102204/life-expextancy-of-parents-with-hereditary-haemorrhagic-telangiectasia
#15
E M de Gussem, C P Edwards, A E Hosman, C J J Westermann, R J Snijder, M E Faughnan, J J Mager
BACKGROUND: Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant disease associated with epistaxis, arteriovenous malformations and telangiectasias. Disease complications may result in premature death. METHOD: We investigated life-expectancies of parents of HHT patients compared with their non-HHT partners using self- or telephone-administered questionnaires sent to their children. Patients were extracted from the databases of 2 participating HHT Centres: the Toronto HHT Database (Toronto, Canada) and the St...
April 22, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/26982736/hereditary-haemorrhagic-telangiectasia-manifesting-as-subdural-empyema
#16
Sandeep P Solanki, Christopher Taylor, Iain Robertson
Hereditary haemorrhagic telangiectasia (HHT) also known as Osler-Weber-Rendu disease is a rare autosomal dominant condition causing vascular dysplasia. Cerebral abscess formation, secondary to paradoxical septic emboli via HHT-derived pulmonary arteriovenous malformations (pAVMs) in this context is well documented. Herein, we present the first case of subdural empyema with this aetiology.
June 2016: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/26965291/follow-up-of-pulmonary-right-to-left-shunt-in-hereditary-haemorrhagic-telangiectasia
#17
Veronique M M Vorselaars, Sebastiaan Velthuis, Repke J Snijder, Cornelis J J Westermann, Jan A Vos, Johannes J Mager, Martijn C Post
Pulmonary arteriovenous malformations (PAVMs) are associated with severe neurological complications in hereditary haemorrhagic telangiectasia (HHT). Transthoracic contrast echocardiography (TTCE) is recommended for screening of pulmonary right-to-left shunts (RLS). Although growth of PAVMs is shown in two small studies, no studies on follow-up with TTCE exist.All HHT patients underwent a second TTCE 5 years after initial screening. Patients with a history of PAVM embolisation were excluded. Pulmonary RLS grade on TTCE after 5 years was compared to the grade at screening...
June 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/26820098/cutaneous-collagenous-vasculopathy-report-of-first-japanese-case-and-review-of-the-literature
#18
Sei-Ichiro Motegi, Masahito Yasuda, Masayoshi Yamanaka, Hiroo Amano, Osamu Ishikawa
Cutaneous collagenous vasculopathy (CCV) is a rare acquired idiopathic microangiopathy characterised by the progressive development of diffuse asymptomatic telangiectasias over the skin. Histologically, the presence of a thick hyaline collagenous wall around the affected capillaries, comprising the accumulation of collagen type IV, is noted. We herein report the case of a 17-year-old Japanese boy with symmetrical patches of diffuse telangiectasias on the bilateral extremities that persisted for 10 months. A histological examination revealed dilated capillaries in the papillary dermis surrounded by thick perivascular deposition of hyaline-like materials, which stained positive for periodic acid-Schiff and collagen type IV...
January 28, 2016: Australasian Journal of Dermatology
https://www.readbyqxmd.com/read/26818701/bazedoxifene-a-new-orphan-drug-for-the-treatment-of-bleeding-in-hereditary-haemorrhagic-telangiectasia
#19
Roberto Zarrabeitia, Luisa Ojeda-Fernandez, Lucia Recio, Carmelo Bernabéu, Jose A Parra, Virginia Albiñana, Luisa M Botella
Hereditary haemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a dominant genetic vascular disorder. In HHT, blood vessels are weak and prone to bleeding, leading to epistaxis and anaemia, severely affecting patients' quality of life. Development of vascular malformations in HHT patients is originated mainly by mutations in ACVRL1/ALK1 (activin receptor-like kinase type I) or Endoglin (ENG) genes. These genes encode proteins of the TGF-β signalling pathway in endothelial cells, controlling angiogenesis...
June 2, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/26735132/follow-up-of-thalidomide-treatment-in-patients-with-hereditary-haemorrhagic-telangiectasia
#20
A Hosman, C J J Westermann, R Snijder, F Disch, C L Mummery, J J Mager
BACKGROUND: Patients with a hereditary vascular disorder called Rendu-Osler-Weber syndrome (Hereditary Haemorrhagic Telangiectasia, HHT) haemorrhage easily due to weak-walled vessels. Haemorrhage in lungs or brain can be fatal but patients suffer most from chronic and prolonged nosebleeds (epistaxis), the frequency and intensity of which increases with age. Several years ago, it was discovered serendipitously that the drug Thalidomide had beneficial effects on the disease symptoms in several of a small group of HHT patients: epistaxis and the incidence of anaemia were reduced and patients required fewer blood transfusions...
December 2015: Rhinology
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