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https://www.readbyqxmd.com/read/29068144/branch-retinal-artery-occlusion-as-a-clinical-manifestation-of-hereditary-haemorrhagic-telangiectasia-osler-weber-rendu-syndrome-in-pregnancy
#1
Andreas J Askim, Alexander S Thrane, Petter Giaever, Rune Andersen, Jørgen Krohn
No abstract text is available yet for this article.
October 25, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28836046/gastrointestinal-manifestations-of-hereditary-hemorrhagic-telangiectasia-hht-a-systematic-review-of-the-literature
#2
REVIEW
Samuel B Jackson, Nicholas P Villano, Jihane N Benhammou, Michael Lewis, Joseph R Pisegna, David Padua
Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease...
October 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28759897/pulmonary-hypertension-in-a-patient-with-hereditary-hemorrhagic-telangiectasia
#3
Dorothy Liu, Kunal Sindhu, Allison Witkin, Lakir Patel, Richard Channick
t Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Disease, is an autosomal dominant genetic disorder that is characterized by the abnormal development of blood vessels. While the pathophysiology underlying the development of pulmonary hypertension (PH) in patients with HHT is not fully understood, it is believed to occur by one of two mechanisms: increases in pulmonary vascular resistance or cardiac output. In the following report, we describe an interesting case of a 26-year-old woman with HHT whose right heart catheterization initially demonstrated PH with elements of both pre- and post-capillary PH...
August 1, 2017: Rhode Island Medical Journal
https://www.readbyqxmd.com/read/28759737/differential-diagnosis-of-hepatopulmonary-syndrome-hps-portopulmonary-hypertension-pph-and-hereditary-hemorrhagic-telangiectasia-hht
#4
REVIEW
Inna Krynytska, Mariya Marushchak, Anna Mikolenko, Anzhela Bob, Iryna Smachylo, Ludmyla Radetska, Olga Sopel
Hepatopulmonary syndrome (HPS) is a severe complication of advanced liver disease associated with an extremely poor prognosis. HPS is diagnosed in 4-47% of patients with cirrhosis and in 15-20% of candidates for liver transplantation. In addition, severe hypoxia is associated with a high risk of complications of liver transplantation (a 30% chance during the first 90 days) and increases the gap between transplantation and improving arterial oxygenation. The pathogenesis of HPS is not fully understood, and no effective pharmacological treatment has been developed yet...
July 31, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28481989/left-atrioventricular-valve-replacement-in-a-patient-with-hereditary-haemorrhagic-telangiectasia
#5
Yasunori Iida, Naritaka Kimura, Akinori Hirano, Hideyuki Shimizu
Hereditary haemorrhagic telangiectasia, or Osler-Rendu-Weber disease, is characterized by multiple arteriovenous malformations and telangiectasia which develop in the brain, lungs or liver. We report the case of a patient who had severe left atrioventricular valve regurgitation with atrial fibrillation after atrioventricular septal defect repair in her childhood and was diagnosed as having hereditary haemorrhagic telangiectasia by chance. The patient underwent successful left atrioventricular valve replacement and maze operation...
August 1, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28417691/telangiectasias-in-osler-weber-rendu-syndrome
#6
Jason E Cohn, Joshua Scharf
No abstract text is available yet for this article.
July 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28394685/a-case-report-of-hereditary-hemorrhagic-telangiectasia-diagnosed-in-a-podiatric-medical-patient
#7
Kunal Amin, Douglas Mckay
Hereditary hemorrhagic telangiectasia (HHT), which is also known as Osler-Weber-Rendu syndrome, is a group of related disorders characterized by the development of arteriovenous malformations. These malformations occur in almost all organs but predominantly in the skin, intestines, liver, lungs, and brain. This is a case report of a patient with cutaneous manifestations of HHT in the lower extremities as diagnosed by his podiatric physician. To our knowledge, the literature does not present any case reports in which cutaneous manifestations of the lower extremities followed by a further work-up allowed a diagnosis of HHT...
March 2017: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/28348036/tgf-%C3%AE-signaling-in-control-of-cardiovascular-function
#8
Marie-José Goumans, Peter Ten Dijke
Genetic studies in animals and humans indicate that gene mutations that functionally perturb transforming growth factor β (TGF-β) signaling are linked to specific hereditary vascular syndromes, including Osler-Rendu-Weber disease or hereditary hemorrhagic telangiectasia and Marfan syndrome. Disturbed TGF-β signaling can also cause nonhereditary disorders like atherosclerosis and cardiac fibrosis. Accordingly, cell culture studies using endothelial cells or smooth muscle cells (SMCs), cultured alone or together in two- or three-dimensional cell culture assays, on plastic or embedded in matrix, have shown that TGF-β has a pivotal effect on endothelial and SMC proliferation, differentiation, migration, tube formation, and sprouting...
March 27, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28224235/oral-mucosal-changes-induced-by-anticancer-targeted-therapies-and-immune-checkpoint-inhibitors
#9
REVIEW
Emmanuelle Vigarios, Joel B Epstein, Vincent Sibaud
Development of biological targeted therapies and immune checkpoint inhibitors has redefined the treatment for many cancers; however, the increasing use of new protocols has led to physicians observing a new spectrum of toxicities. To date, oral adverse events induced by these new anticancer therapies have been mainly reported using nonspecific terminology ("stomatitis," "mucosal inflammation," "mucositis") and remain poorly characterized, with the exception of mammalian target of rapamycin (mTOR) inhibitor-associated stomatitis...
May 2017: Supportive Care in Cancer: Official Journal of the Multinational Association of Supportive Care in Cancer
https://www.readbyqxmd.com/read/28210642/high-output-heart-failure-contributing-to-recurrent-epistaxis-kiesselbach-area-syndrome-in-a-patient-with-hereditary-hemorrhagic-telangiectasia
#10
Venugopal Brijmohan Bhattad, Jennifer N Bowman, Hemang B Panchal, Timir K Paul
Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare genetic blood disorder that leads to abnormal bleeding due to absent capillaries and multiple abnormal blood vessels known as arteriovenous malformations. A feature of HHT is high-output heart failure due to multiple arteriovenous malformations. High-output heart failure can lead to recurrent epistaxis Kiesselbach area syndrome (REKAS), further exacerbating heart failure through increased blood loss and resultant anemia...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28115008/hereditary-hemorrhagic-telangiectasia-liver-disease-and-elevated-serum-testosterone-osler-weber-rendu-syndrome-a-case-report
#11
R Dissanayake, K P K Y M D S Wickramarathne, S N Seneviratne, S N Perera, M U J Fernando, V P Wickramasinghe
BACKGROUND: A Sri Lankan girl with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) is described. CASE PRESENTATION: She presented with recurrent spontaneous epistaxis, pulmonary arterio venous malformation and oral telangiectasia. A diagnosis of Hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) was made based on the presence of three Curacao criteria (out of four). Evaluations of her jaundice revealed chronic parenchymal liver disease with multiple nodules in the liver with early portal hypertension...
January 23, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28087692/underuse-of-screening-in-osler-weber-rendu-syndrome
#12
O M P Jolobe
No abstract text is available yet for this article.
May 1, 2017: QJM: Monthly Journal of the Association of Physicians
https://www.readbyqxmd.com/read/28031662/hereditary-hemorrhagic-telangiectasia-and-myocardial-infarction
#13
Efrén Martínez-Quintana, Fayna Rodríguez-González, Silvia Gopar-Gopar
Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disorder that leads to epistaxis, gastrointestinal bleeding, iron deficiency anemia, and arteriovenous malformations at the lungs, the liver, and the brain. However, due to its rarity and its unspecific findings on routine examinations, diagnosis is not easy unless suspected due to hypoxemia or paradoxical embolism. We present a case of a 46-year-old-woman with hereditary hemorrhagic telangiectasia and hypoxemia who presented a myocardial infarction secondary to paradoxical embolism through pulmonary arteriovenous malformations...
December 2016: International Journal of Angiology: Official Publication of the International College of Angiology, Inc
https://www.readbyqxmd.com/read/27986467/guidelines-of-the-french-society-of-otorhinolaryngology-sforl-short-version-specific-treatment-of-epistaxis-in-rendu-osler-weber-disease
#14
L Robard, J Michel, V Prulière Escabasse, E Bequignon, B Vérillaud, O Malard, L Crampette
OBJECTIVES: The authors present the guidelines of the French Oto-Rhino-Laryngology - Head and Neck Surgery Society (Société Française d'Oto-Rhino-Laryngologie et de Chirurgie de la Face et du Cou: SFORL) concerning specific treatment of epistaxis in Rendu-Osler-Weber disease. METHODS: A multidisciplinary work-group was entrusted with a review of the scientific literature on the above topic. Guidelines were drawn up, based on the articles retrieved and the group members' individual experience...
February 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/27895866/liver-findings-in-patients-with-hereditary-hemorrhagic-telangiectasia
#15
Wenyan Song, Dawei Zhao, Hongjun Li, Jinli Ding, Ning He, Yu Chen
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant genetic vascular dysplasia. OBJECTIVES: The aim is to characterize the liver involvement of HHT by multi-detector helical computed tomography. PATIENTS AND METHODS: Through the use of multi-detector helical computed tomography, scan data derived from 12 cases of HHT were retrospectively studied, and an abdominal scan was performed on all of the patients...
October 2016: Iranian Journal of Radiology: a Quarterly Journal Published By the Iranian Radiological Society
https://www.readbyqxmd.com/read/27803822/pancytopenia-in-a-patient-with-rendu-osler-weber-syndrome-and-uncommon-vascular-abnormalities
#16
Nicolò Binello, Antonio Gasbarrini, Eleonora Gaetani
Rendu-Osler-Weber syndrome, or hereditary hemorrhagic teleangiectasia (HHT), is a rare autosomal dominant vascular disorder, characterized by multiple mucocutaneous teleangiectases with recurrent nasal and gastrointestinal bleedings and/or solid-organ arteriovenous shunts. We describe the first case to our knowledge of pancytopenia in a 53-year-old patient, with a known history of HHT and recurrent nasal and gastrointestinal bleedings, who was found to have a major splenic artery aneurysm and other uncommon vascular abnormalities...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27777480/abdominal-vascular-syndromes-characteristic-imaging-findings
#17
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
https://www.readbyqxmd.com/read/27767404/prevalence-and-characteristics-of-brain-arteriovenous-malformations-in-hereditary-hemorrhagic-telangiectasia-a-systematic-review-and-meta-analysis
#18
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...
August 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27714648/hereditary-hemorrhagic-telangiectasia-osler-weber-rendu-syndrome
#19
Michael A Santos
No abstract text is available yet for this article.
February 2017: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/27599329/effect-of-topical-intranasal-therapy-on-epistaxis-frequency-in-patients-with-hereditary-hemorrhagic-telangiectasia-a-randomized-clinical-trial
#20
RANDOMIZED CONTROLLED TRIAL
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
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