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Osler weber rendu

Leandro Cardarelli-Leite, Fernanda Garozzo Velloni, Priscila Silveira Salvadori, Marcelo Delboni Lemos, Giuseppe D'Ippolito
Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital-including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome)-or compressive-including "nutcracker" syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome...
July 2016: Radiologia Brasileira
Waleed Brinjikji, Vivek N Iyer, Christopher P Wood, Giuseppe Lanzino
OBJECTIVE Patients with hereditary hemorrhagic telangiectasia (HHT) are known to suffer from high rates of cerebral arteriovenous malformations (AVMs). The authors performed a systematic review and meta-analysis of the literature examining prevalence rates, characteristics, and clinical presentation of cerebral AVMs in the HHT population. METHODS To identify studies on AVM prevalence and characteristics in the HHT population, 4 databases (MEDLINE, EMBASE, Scopus and Web of Science) were searched by a reference librarian with over 30 years experience in systematic reviews and meta-analysis...
October 21, 2016: Journal of Neurosurgery
Michael A Santos
No abstract text is available yet for this article.
October 6, 2016: Journal of General Internal Medicine
Kevin J Whitehead, Nathan B Sautter, Justin P McWilliams, Murali M Chakinala, Christian A Merlo, Maribeth H Johnson, Melissa James, Eric M Everett, Marianne S Clancy, Marie E Faughnan, S Paul Oh, Scott E Olitsky, Reed E Pyeritz, James R Gossage
IMPORTANCE: Epistaxis is a major factor negatively affecting quality of life in patients with hereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu disease). Optimal treatment for HHT-related epistaxis is uncertain. OBJECTIVE: To determine whether topical therapy with any of 3 drugs with differing mechanisms of action is effective in reducing HHT-related epistaxis. DESIGN, SETTING, AND PARTICIPANTS: The North American Study of Epistaxis in HHT was a double-blind, placebo-controlled randomized clinical trial performed at 6 HHT centers of excellence...
September 6, 2016: JAMA: the Journal of the American Medical Association
Fabio Corvino, Mattia Silvestre, Amedeo Cervo, Francesco Giurazza, Antonio Corvino, Franco Maglione
Pulmonary arteriovenous malformations (PAVMs) are vascular anomalies of the lung and carry the risk of cerebral thromboembolism, brain abscess, or pulmonary hemorrhage. We describe a 64-year-old male with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) who presented with a five-year history of progressive effort dyspnea and a PAVM in the right upper lobe successfully treated by transcatheter embolization of feeding arteries using a new occlusion device, the ArtVentive Endoluminal Occlusion System™...
September 2016: Diagnostic and Interventional Radiology: Official Journal of the Turkish Society of Radiology
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
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
Cecilia Frigerio, Nicole Aebischer, David Baud, Luisa Bonafe, Florence Fellmanne, Christos Ikonomidis, Lucia Mazzolai, Patrik Michel, Cristina Nichita, Salah Dine Qanadli, Romain Lazor
Hereditary hemorrhagic telangiectasia (HHT), or Osler- Weber-Rendu syndrome, is a rare genetic disorder with autosomal dominant inheritance, characterized by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations (AVMs), which may lead to severe complications. The diagnosis of HHT is often delayed due to the rarity of the disease, and the variety of clinical manifestations. The management of HHT includes systematic screening for visceral AVMs at regular intervals, preventive interventions to reduce the risk of complications, and symptomatic measures...
May 4, 2016: Revue Médicale Suisse
M U Butt, E Yoo, U Khan
No abstract text is available yet for this article.
September 2016: QJM: Monthly Journal of the Association of Physicians
Şule Koşar, Betül Kızıldağ, Arzu Canan, Ozan Karatağ, Uğur Gönlügür, Abdullah Sarıyıldırım
Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome (ROWS) is a very rare hereditary disease. The diagnosis is based on the clinical findings such as recurrent epistaxis, telangiectases, visceral arteriovenous malformations (AVMs) and family history. AVMs are found in the liver, lung or brain and could mimick the masses of these organs. Radiologic evaluation plays a critical role during diagnostic and therapeutic management of ROWS. Hence, radiologists should be aware of the diagnosis of HHT in the patients with AVMs, history of epistaxis and family history...
March 2016: Tüberküloz Ve Toraks
Amir M Khoja, Rahul K Jalan, Dheeraj L Jain, Omkar V Kajale
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 to severely symptomatic, from cases with no or few mucocutaneous lesions to those with diffuse cutaneous telangiectasia. We discuss a case of Osler-Weber-Rendu disease causing diffuse cutaneous telangiectasia and hemoptysis. The patient presented with complaints of hemoptysis and was extensively examined and investigated before being diagnosed with Osler-Weber-Rendu disease...
May 2016: Lung India: Official Organ of Indian Chest Society
Kabilan Chokkappan, Anbalagan Kannivelu, Sivasubramanian Srinivasan, Suresh Balasubramanian Babut
Bilateral pulmonary arteriovenous malformations (AVMs) are rare and are often associated with the hereditary hemorrhagic telangiectasia (HHT/Osler-Weber-Rendu) syndrome. We present a woman who presented with neurological symptoms due to a cerebral abscess. On further evaluation, bilateral pulmonary AVMs were identified. The patient was diagnosed with HHT, based on positive family history and multiple cerebral AVMs recognized on subsequent catheter angiogram, in addition to the presence of bilateral pulmonary AVMs...
April 2016: Annals of Thoracic Medicine
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...
2016: BMJ Case Reports
E Lücke, J Schreiber, M Zencker, R Braun-Dullaeus, J Herold
A 72-year-old female patient presented with increasing dyspnea of unclear origin classified as New York Heart Association stage III (NYHA III). Using transesophageal echocardiography a patent foramen ovale (PFO) and right heart failure could be diagnosed. Right heart catheterization revealed a large left to right shunt due to an arteriovenous malformation in the liver. Because of additional telangiectasia of the lips the presumptive diagnosis was Rendu-Osler-Weber disease. Typical nosebleeds and other symptoms of the disease were lacking and only two out of four Curaçao criteria were positive; therefore, genetic testing was performed, which verified the clinical diagnosis...
June 2016: Der Internist
Sara Sena Esteves, Carla Cardoso, Ana Silva, José Abrunhosa, Cecília Almeida E Sousa
: Hereditary hemorrhagic telangiectasia (HHT), also known by the eponym Osler-Weber-Rendu syndrome, is an autosomal dominant disorder characterised by the presence of multiple arteriovenous malformations (AVMs) affecting multiple organs. Many procedures have been used for epistaxis control in patients with this disorder. The objective of this study was to report the treatment of severe HHT-related epistaxiswith the modified Young's procedure. MATERIALS AND METHODS: We describe the treatment of 4 patients with severe blood-transfusion-dependent epistaxis who underwent a modified Young's procedure in a tertiary hospital...
April 11, 2016: Acta Otorrinolaringológica Española
Luisa Ojeda-Fernández, Lucía Recio-Poveda, Mikel Aristorena, Pedro Lastres, Francisco J Blanco, Francisco Sanz-Rodríguez, Eunate Gallardo-Vara, Mateo de las Casas-Engel, Ángel Corbí, Helen M Arthur, Carmelo Bernabeu, Luisa M Botella
Endoglin is an auxiliary receptor for members of the TGF-β superfamily and plays an important role in the homeostasis of the vessel wall. Mutations in endoglin gene (ENG) or in the closely related TGF-β receptor type I ACVRL1/ALK1 are responsible for a rare dominant vascular dysplasia, the Hereditary Hemorrhagic Telangiectasia (HHT), or Rendu-Osler-Weber syndrome. Endoglin is also expressed in human macrophages, but its role in macrophage function remains unknown. In this work, we show that endoglin expression is triggered during the monocyte-macrophage differentiation process, both in vitro and during the in vivo differentiation of blood monocytes recruited to foci of inflammation in wild-type C57BL/6 mice...
March 2016: PLoS Genetics
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
Pichapong Tunsupon, Pojchawan Yampikulsakul, Natdanai Punnanithinont
No abstract text is available yet for this article.
2016: BMJ Case Reports
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
Rolando Pinho, Ana Ponte, Adélia Rodrigues, Teresa Pinto-Pais, Carlos Fernandes, Iolanda Ribeiro, Joana Silva, Jaime Rodrigues, Miguel Mascarenhas-Saraiva, João Carvalho
BACKGROUND AND AIMS: The effectiveness of endoscopic therapy of small-bowel vascular lesions (SBVL) remains unclear as recent studies report high recurrence rates after 2 years of follow-up. This study aimed to evaluate the long-term rebleeding risk after endoscopic therapy of SBVL and to identify predictive factors of rebleeding. METHODS: This was a retrospective single-center series of patients with SBVL treated endoscopically between July 2007 and February 2015...
April 2016: European Journal of Gastroenterology & Hepatology
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