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Hereditary hemorrhagic telangectasia

Sophie Dupuis-Girod, Alexis Ambrun, Evelyne Decullier, Anne-Emmanuelle Fargeton, Adeline Roux, Valentine Bréant, Bettina Colombet, Sophie Rivière, César Cartier, Pascal Lacombe, Thierry Chinet, Sandra Blivet, Jean-Hugues Blondel, Brigitte Gilbert-Dussardier, Xavier Dufour, Justin Michel, Jean-Robert Harle, Patrick Dessi, Frédéric Faure
BACKGROUND: Epistaxis is the most frequent and disabling manifestation of hereditary hemorrhagic telangiectasia (HHT). The efficacy of intravenous bevacizumab (an anti-vascular endothelial growth factor monoclonal antibody) for epistaxis has been shown. However, the efficacy of intranasal bevacizumab has yet to be evaluated. OBJECTIVE: To evaluate the efficacy of 3 different doses of bevacizumab administered as a nasal spray in a repeated manner for the duration of nosebleeds in patients with HHT...
September 6, 2016: JAMA: the Journal of the American Medical Association
Elisa Rossi, David M Smadja, Elisa Boscolo, Carmen Langa, Miguel A Arevalo, Miguel Pericacho, Luis Gamella-Pozuelo, Alexandre Kauskot, Luisa M Botella, Pascale Gaussem, Joyce Bischoff, José M Lopez-Novoa, Carmelo Bernabeu
The circulatory system is walled off by different cell types, including vascular mural cells and podocytes. The interaction and interplay between endothelial cells (ECs) and mural cells, such as vascular smooth muscle cells or pericytes, play a pivotal role in vascular biology. Endoglin is an RGD-containing counter-receptor for β1 integrins and is highly expressed by ECs during angiogenesis. We find that the adhesion between vascular ECs and mural cells is enhanced by integrin activators and inhibited upon suppression of membrane endoglin or β1-integrin, as well as by addition of soluble endoglin (SolEng), anti-integrin α5β1 antibody or an RGD peptide...
April 2016: Cellular and Molecular Life Sciences: CMLS
Yujay Ramakrishnan, Isma Z Iqbal, Mark Puvanendran, Mohamed Reda ElBadawey, Sean Carrie
The aim of this study is to identify the demographics and epistaxis burden of hereditary hemorrhagic telangiectasia (HHT). A questionnaire was sent to participants with HHT who were recruited from a prospectively maintained respiratory clinic data base in a tertiary hospital. Details on demographics, HHT symptoms, family history, epistaxis severity, and treatment received were recorded. There were 34 of 60 responses (57%). Two responses were from families of the deceased. Of the 32 evaluable patients (men, 14; women 18), the average age was 51 years (range, 23-78 years)...
January 2015: Allergy & Rhinology
L H Lim, R L Scawn, K M Whipple, S R Oh, M J Lucarelli, B S Korn, D O Kikkawa
PURPOSE: Spontaneous superior ophthalmic vein thrombosis (SOVT) is a rare entity. We describe three patients with spontaneous ophthalmic vein thrombosis, each with various risk factors. PATIENTS AND METHODS: A retrospective review of three patients with a diagnosis of superior ophthalmic vein thrombosis. Clinical characteristics, radiographic features, management techniques and outcomes are described. RESULTS: All patients presented with unilateral painful proptosis...
March 2014: Eye
Olivier Nolan-Stevaux, Wendy Zhong, Stacey Culp, Kathy Shaffer, Joseph Hoover, Dineli Wickramasinghe, Astrid Ruefli-Brasse
Endoglin (ENG), a co-receptor for several TGFβ-family cytokines, is expressed in dividing endothelial cells alongside ALK1, the ACVRL1 gene product. ENG and ACVRL1 are both required for angiogenesis and mutations in either gene are associated with Hereditary Hemorrhagic Telangectasia, a rare genetic vascular disorder. ENG and ALK1 function in the same genetic pathway but the relative contribution of TGFβ and BMP9 to SMAD1/5/8 activation and the requirement of ENG as a co-mediator of SMAD phosphorylation in endothelial cells remain debated...
2012: PloS One
Flavio d'Ascenzi, Valerio Zacà, Alessandro Iadanza, Sergio Mondillo, Carlo Pierli
BACKGROUND: A 42-year-old man with no cardiovascular risk factors or history was admitted for evaluation of an episode of transient ischaemic attack (TIA). He had no cardiovascular risk factors and his physical examination was unremarkable. INVESTIGATION: Physical examination, electrography, transesophageal echocardiogram, coronary angiogram. DIAGNOSIS: Intrapulmonary shunting, in the presence of arteriovenous malformations, possible hereditary haemorrhagic telangectasia...
November 2011: EuroIntervention
Amit Pawale, Gopal Chealikani, Leslie Mitchell, Stephen Clark
We present a case of a 62-year-old lady who was a known case of hereditary haemorrhagic telangectasia (Rendu-Osler-Weber syndrome) and had pulmonary arteriovenous malformations (AVMs). She had multiple embolisations of pulmonary AVMs. During the last embolisation therapy, one of the coils migrated into the heart. This could not be located by transoesophageal echocardiography, however, was identified in the left ventricle by computerised tomogram scan. It was removed successfully using cardiopulmonary bypass...
September 2009: Interactive Cardiovascular and Thoracic Surgery
Patricio S Espinosa, L Creed Pettigrew, Joseph R Berger
Hereditary hemorrhagic telangectasia (HHT), also known as Osler-Weber-Rendu disease, is an autosomal dominant vascular dysplasia with high penetrance and variable expressivity. A wide variety of neurological complications have been reported in association with this condition. We report the first case of spinal cord infarction likely due to paradoxical embolization with HHT and review the literature on the neurological complications of this disorder. MEDLINE was employed to identify all published reports of HHT with neurological complications...
May 2008: Clinical Neurology and Neurosurgery
A Bedongi, D McCombe, J Kennedy, W Morrison
Recurrent massive epistaxes due to heriditary haemorrhagic telangectasia were managed in two patients by ablation of the mucosa of the nasal and maxillary cavities and resurfacing with radial forearm fasciocutaneous free flaps. Both patients had undergone multiple procedures attempting to control the epistaxes prior to the definitive procedures described. Both patients remained epistaxis free postoperatively and retained their nasal airways. Olfactory function was preserved in the second patient due to preservation of the superior turbinate and cribriform olfactory mucosa...
2006: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
Avi Beck, Tamir Dagan, Avraham Matitiau, Elchanan Bruckheimer
OBJECTIVE: To review the authors' experience with transcatheter closure of pulmonary arteriovenous malformations (PAVMs) using amplatzer duct occluder (ADO) devices and vascular plugs (AGA Medical, Golden Valley, MN) and present a novel technique for delivery sheath placement and device delivery. BACKGROUND: PAVMs can cause cyanosis, fatigue, polycythemia, and thromboembolic phenomena. Transcatheter closure using coils, detachable balloons, and various devices has replaced surgery as the preferred therapy...
June 2006: Catheterization and Cardiovascular Interventions
Anna Cirulli, Maria Paola Loria, Porzia Dambra, Francesca Di Serio, Maria T Ventura, Luigi Amati, Emilio Jirillo, Carlo Sabbà
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare genetic disease characterized by mutations occurring in the endoglin and ALK-1, two receptors of transforming growth factor-beta1. From a pathogenic point of view, a possible involvement of the immune system in HHT has been suggested since a mononuclear cell infiltrate was found around the area of telangiectases. Up until now, no information has been available about the role played by leukocytes in HHT and the mechanisms elicited by secretion of their mediators...
2006: Current Pharmaceutical Design
Sean Cullen, Hortensia Alvarez, Georges Rodesch, Pierre Lasjaunias
BACKGROUND AND PURPOSE: A minority of patients with spinal arteriovenous malformations (SAVM) are symptomatic as neonates or infants. We analyzed the clinical and anatomic factors associated with this early presentation, and reviewed our experience in treating patients with these lesions. METHODS: A retrospective review of clinical records and imaging studies was performed for patients with SAVM who presented at less than 2 years of age and who were examined by the diagnostic and interventional neuroradiology service at our institution...
September 2006: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Kochlef Asma, Gargouri Dalila, Bousnina Olfa, Romani Malika, Kilani Afef, BelHadg Najet, Kharrat Jamel, Gorbel Abdeljabbar, Shili Sarra, Jemli Chiraz, Habib Daghfous Mohamed, Khlifi Slim, Ben Maamer Anis, Letaïef Abdelmajid
Osler Weber Rendu Disease is an hereditary haemorrhagic télangectasia habitually revealed by reccurent bleeding (epistaxis). Hepatic involvement in Osler disease is found in 8 to 31%, manifested by cholestasis. We report an original observation of a cholangitis revealing Osler disease.
August 2005: La Tunisie Médicale
J Perdu
Understanding the features of the various hereditary vascular pathologies allows consideration and confirmation of the diagnosis, and a search for treatable hidden disorders, avoiding harmful investigations, initiating follow up, performing family investigations and providing genetic counselling. Pseudoxanthoma elasticum must be considered in the presence of calcified distal arteriopathy of the lower limbs in a young subject without any other aetiological aspects. Cutaneous or mucosal lesions confirmed on histological examination, angioid streaks at the back of the eye and a family history support the diagnosis, which is confirmed by showing pathogenic mutations of the ABCC6 gene...
November 2003: Archives des Maladies du Coeur et des Vaisseaux
Susan M Weeks, Matthew A Mauro
No abstract text is available yet for this article.
May 2003: Journal of Vascular and Interventional Radiology: JVIR
P Jakobi, Z Weiner, L Best, J Itskovitz-Eldor
BACKGROUND: Most congenital pulmonary arteriovenous malformations are associated with hereditary hemorrhagic telangiectasia. During pregnancy, pulmonary hemorrhage can occur, compromising maternal and fetal health. CASES: We studied three pregnancies in two women with hemorrhagic telangiectasia complicated by pulmonary arteriovenous malformations. A 28-year-old primigravida's fetus died at 25 weeks' gestation, and she had embolotherapy with coil springs, which corrected the hypoxemic state...
May 2001: Obstetrics and Gynecology
Y Berthezène, N R Howarth, D Revel
Pulmonary arteriovenous fistula are an uncommon disorder, and are most frequently congenital, usually then associated with hereditary hemorrhagic telangectasia (Rendu-Osler-Weber disease). We present, to our knowledge, the first case of a pulmonary arteriovenous fistula detected by gadolinium-enhanced pulmonary magnetic resonance angiography and confirmed by digital subtraction pulmonary angiography in a patient where the CT scan was unremarkable.
1998: European Radiology
V B Zolotarevskiĭ, T P Nekrasova
A rare disease in a female of 60 is reported. Telangiectasias of skin venules, brain, mediastinum, stomach, duodenum and jejunum were found. The disease manifested with repeated massive intestinal bleedings. Elastic fibers alterations were found in the ectatic vessels and surrounding connective tissue.
May 1998: Arkhiv Patologii
A Villar Grimalt, R Gil Lita, J Gisbert Vicens, B Brotons Brotons, J García Reinoso
No abstract text is available yet for this article.
May 15, 1980: Revista Clínica Española
J S Fernández Pascual, A Domínguez Macias, B Pérez GOMEZ, A Cabello Otero
No abstract text is available yet for this article.
July 15, 1977: Revista Clínica Española
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