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hereditary hemorrhagic telangiectasia

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https://www.readbyqxmd.com/read/29662934/bevacizumab-for-refractory-gastrointestinal-bleeding-in-rendu-osler-weber-disease
#1
Carlos Bernardes, Sara Santos, Rafaela Loureiro, Verónica Borges, Gonçalo Ramos
Rendu-Osler-Weber disease, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder which is often characterized by recurrent epistaxis, mucocutaneous and gastrointestinal telangiectasias, and visceral arteriovenous malformations. Patients with gastrointestinal involvement can present with a wide spectrum of severity, which may vary from uncomplicated iron deficiency anemia to continuous and refractory bleeding. We present the case of a 62-year-old female, who was admitted with anemia following several episodes of melena, and whose endoscopic examination revealed multiple angiodysplasias in the stomach and small bowel...
March 2018: GE Portuguese Journal of Gastroenterology
https://www.readbyqxmd.com/read/29655863/applicability-of-the-cura%C3%A3-ao-criteria-for-the-diagnosis-of-hereditary-hemorrhagic-telangiectasia-in-the-pediatric-population
#2
Kristy S Pahl, Arkopal Choudhury, Katie Wusik, Adrienne Hammill, Andrew White, Katharine Henderson, Jeffrey Pollak, Raj S Kasthuri
OBJECTIVE: To evaluate the accuracy of the clinical Curaçao criteria in the diagnosis of hereditary hemorrhagic telangiectasia (HHT) in children and adolescents. STUDY DESIGN: This was a retrospective, multicenter chart review of 673 patients evaluated between 2002 and 2016; 290 were eligible for the study. Genetic testing for a pathogenic mutation was considered the gold standard against which the clinical Curaçao criteria were compared. Patients were divided into 4 age categories: 0-5, 6-10, 11-15, and 16-21-years...
April 11, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29652991/-genetic-analysis-of-a-family-affected-with-pulmonary-hypertension-secondary-to-hereditary-hemorrhagic-telangiectasia
#3
Xuqin Du, Yiran Wang, Qiao Ye
OBJECTIVE: To carry out genetic testing for a family affected with pulmonary hypertension (PH) as the initial sign of hereditary hemorrhagic telangiectasia (HHT). METHODS: High throughput sequencing was performed to detect potential mutation in the coding regions of endoglin (ENG), activin receptor-like kinase 1 (ACVRL1) and mothers against decapentaplegic homolog 4 (SMAD4) genes. RESULTS: A pathogenic heterozygous c.814C>T (p.Gln272Ter) mutation of the ACVRL1 gene was identified in the proband...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29610574/impact-of-age-on-outcomes-in-hospitalized-patients-with-hereditary-hemorrhagic-telangiectasia
#4
Vivek N Iyer, Waleed Brinjikji, Dinesh Apala, Bibek S Pannu, Aditya Kotecha, Michael D Leise, Patrick S Kamath, Sanjay Misra, Giuseppe Lanzino, Michael J Krowka, Christopher P Wood, Karen L Swanson
Background: There is little published literature regarding the impact of age on outcomes amongst hospitalized HHT (hereditary hemorrhagic telangiectasia) patients. Methods: The Nationwide Inpatient Sample (NIS) was used to obtain data on all hospital discharges occurring in HHT patients from 2000 to 2012. The association between admission age and HHT-related complications and outcomes were studied. Results: 10293 hospitalizations in HHT patients from 2000 to 2012 were included...
2018: Advances in Hematology
https://www.readbyqxmd.com/read/29593101/thalidomide-reduces-hemorrhage-of-brain-arteriovenous-malformations-in-a-mouse-model
#5
Wan Zhu, Wanqiu Chen, Dingquan Zou, Liang Wang, Chen Bao, Lei Zhan, Daniel Saw, Sen Wang, Ethan Winkler, Zhengxi Li, Meng Zhang, Fanxia Shen, Sonali Shaligram, Michael Lawton, Hua Su
BACKGROUND AND PURPOSE: Brain arteriovenous malformation (bAVM) is an important risk factor for intracranial hemorrhage. Current treatments for bAVM are all associated with considerable risks. There is no safe method to prevent bAVM hemorrhage. Thalidomide reduces nose bleeding in patients with hereditary hemorrhagic telangiectasia, an inherited disorder characterized by vascular malformations. In this study, we tested whether thalidomide and its less toxic analog, lenalidomide, reduce bAVM hemorrhage using a mouse model...
March 28, 2018: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/29573771/radiofrequency-for-treatment-of-refractory-epistaxis-in-hereditary-hemorrhagic-telangiectasia
#6
Mariana Donato, João Pimentel, Rui Cabral, Pedro Escada
Hereditary hemorrhagic telangiectasia is a rare multi-systemic autosomal dominant disorder characterized by dysplasia of the vascular connective tissue and recurrent bleeding tendency. Epistaxis is the most common and earliest symptom. It is usually mild to moderate, however, in some patients it can be severe with significant interference in quality of life. We report a case of a patient with hereditary hemorrhagic telangiectasia, in which an episode of refractory epistaxis was treated with radiofrequency and fibrin sealant...
January 31, 2018: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/29552242/congestive-cirrhosis-in-osler-weber-rendu-syndrome-a-rare-case-report
#7
Patrícia Leitão, André Carvalho, Conceição Guerra, José Gonçalves, Isabel Ramos
Hereditary hemorrhagic telangiectasia or Osler-Weber-Rendu syndrome is a rare autosomal dominant vascular disorder characterized by epistaxis, mucocutaneous telangiectasias, and arteriovenous malformations affecting various organs and systems. The liver is a commonly involved organ (74% of patients with hereditary hemorrhagic telangiectasia), although symptomatic liver disease is quite infrequent. In symptomatic cases, clinical manifestations relate most commonly to the predominant type of vascular shunting present (arteriovenous, arterioportal, or portovenous)...
February 2018: Radiology Case Reports
https://www.readbyqxmd.com/read/29537299/vitamin-d-levels-are-associated-with-epistaxis-severity-and-bleeding-duration-in-hereditary-hemorrhagic-telangiectasia
#8
Lauren Marissa Weber, Jamie McDonald, Kevin Whitehead
AIM: To explore the association between vitamin D levels and mild versus severe epistaxis, as well as the overall epistaxis severity score (ESS) in patients with hereditary hemorrhagic telangiectasia. PATIENTS & METHODS: A retrospective chart review of 198 patients was performed to explore the relationship between vitamin D levels and the ESS. Vitamin D levels were also compared with those with mild epistaxis to those with severe epistaxis. RESULTS: A significant difference was found between patient's vitamin D levels and their associated ESS and duration of epistaxis...
March 14, 2018: Biomarkers in Medicine
https://www.readbyqxmd.com/read/29515340/severe-hepatic-and-pulmonary-involvement-in-rendu-osler-weber-syndrome
#9
Xavier Verhelst, Anja Geerts, Hans Van Vlierberghe, Peter Smeets, Clarisse Lecluyse
We report the case of a young woman with hereditary hemorrhagic telangiectasia (HHT) with severe liver involvement and pulmonary shunting. The medical imaging in this patient illustrates the severe shunting that can occur in these patients who often are asymptomatic. By showing this case, we want to highlight the role of liver transplantation in HHT with hepatic involvement.
January 2018: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/29483005/clinical-presentation-and-treatment-paradigms-of-brain-arteriovenous-malformations-in-patients-with-hereditary-hemorrhagic-telangiectasia
#10
Nicholas T Gamboa, Evan J Joyce, Ilyas Eli, Min S Park, Philipp Taussky, Richard H Schmidt, Jamie McDonald, Kevin J Whitehead, M Yashar S Kalani
Hereditary hemorrhagic telangiectasia (HHT) is characterized by recurrent spontaneous epistaxis, mucocutaneous telangiectases, and multisystem arteriovenous malformations (AVMs). Brain AVMs typically present at birth and are identified in approximately 10-20% of patients with HHT. A retrospective review was undertaken of all HHT patients with known single or multiple brain AVMs treated at our institution. Thirty-nine patients with brain AVM(s) were diagnosed with HHT. Most patients presented with at least one Curaçao criterion...
February 23, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29480092/express-the-clinical-characteristics-and-long-term-prognosis-of-pulmonary-arterial-hypertension-associated-with-hereditary-hemorrhagic-telangiectasia
#11
Wen Li, Changming Xiong, Qing Gu, Xiao-Tong Wang, Xiao-Ling Cheng, Li Huang, Tao Yang, Qin Luo, Zhi-Hui Zhao, Xin-Hai Ni, Zhi-Hong Liu, Jianguo He
No abstract text is available yet for this article.
January 1, 2018: Pulmonary Circulation
https://www.readbyqxmd.com/read/29470256/systematic-screening-in-hereditary-hemorrhagic-telangiectasia-a-review
#12
Steven Kroon, Repke J Snijder, Marie E Faughnan, Hans-Jurgen Mager
PURPOSE OF REVIEW: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease characterized by telangiectasia and arteriovenous malformations (AVMs). To date, five genetic types of HHT and one combined juvenile polyposis syndrome and HHT are known. Clinical and genetic screening of patients suspected with HHT is recommended to confirm the diagnosis and to prevent complications associated with HHT. The aim of this article is to give an overview of the evidence and to formulate a recommendation for clinicians concerning screening for HHT...
February 20, 2018: Current Opinion in Pulmonary Medicine
https://www.readbyqxmd.com/read/29469958/long-term-experience-with-intranasal-bevacizumab-therapy
#13
Johan Steineger, Terje Osnes, Ketil Heimdal, Sinan Dheyauldeen
OBJECTIVES/HYPOTHESIS: Long-term follow-up of intranasal bevacizumab therapy in hereditary hemorrhagic telangiectasia (HHT). STUDY DESIGN: Prospective, noncomparative study. METHODS: Patients treated for HHT-associated epistaxis by intranasal submucosal bevacizumab injections between June 2011 and August 2013 were included and followed prospectively. The effectiveness of the treatment was evaluated by the epistaxis severity score (ESS); the epistaxis intensity, frequency, and the need of blood transfusion (IFT) score; and hemoglobin levels...
February 22, 2018: Laryngoscope
https://www.readbyqxmd.com/read/29469756/essential-telangiectasia-in-an-infant-a-diagnosis-to-be-considered
#14
Pablo Fernández-Crehuet, Ricardo Ruiz-Villaverde
Essential generalized telangiectasia as the result of postcapillary venule dilatation, is characterized by the sudden development of generalized telangiectasias, sometimes involving the conjunctiva. A few pediatric cases have been reported. The main condition in the differential diagnosis includes syndromes with telangiectasia such as hereditary hemorrhagic telangiectasia of Rendu-Osler, unilateral nevoid telangiectasia, and neonatal lupus erythematous. We present an 11-month-old boy that presented because of telangiectasia located on the face and neck...
August 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29460088/vascular-deficiency-of-smad4-causes-arteriovenous-malformations-a-mouse-model-of-hereditary-hemorrhagic-telangiectasia
#15
Angela M Crist, Amanda R Lee, Nehal R Patel, Dawn E Westhoff, Stryder M Meadows
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder that leads to abnormal connections between arteries and veins termed arteriovenous malformations (AVM). Mutations in TGFβ pathway members ALK1, ENG and SMAD4 lead to HHT. However, a Smad4 mouse model of HHT does not currently exist. We aimed to create and characterize a Smad4 endothelial cell (EC)-specific, inducible knockout mouse (Smad4f/f ;Cdh5-CreERT2 ) that could be used to study AVM development in HHT. We found that postnatal ablation of Smad4 caused various vascular defects, including the formation of distinct AVMs in the neonate retina...
February 19, 2018: Angiogenesis
https://www.readbyqxmd.com/read/29460040/benign-and-malignant-hepatocellular-lesions-in-patients-with-vascular-liver-diseases
#16
Valérie Vilgrain, Valérie Paradis, Morgane Van Wettere, Dominique Valla, Maxime Ronot, Pierre-Emmanuel Rautou
A variety of vascular liver disorders can induce hepatocellular tumors. They may be related to portal venous deprivation, venous outflow obstruction, or arterial diseases. Their common feature is an imbalance between hepatic arterial and portal venous blood flow leading to an increased hepatic arterial inflow. Consequently, hepatocellular tumors may arise, most commonly focal nodular hyperplasia-like lesions but hepatocellular adenomas and hepatocellular carcinoma may be seen as well. This article will review the most common vascular liver diseases associated with hepatocellular nodules (Budd-Chiari syndrome, congenital portosystemic shunt, hereditary hemorrhagic telangiectasia, and portal cavernoma)...
February 19, 2018: Abdominal Radiology
https://www.readbyqxmd.com/read/29451965/pazopanib-effective-for-bevacizumab-unresponsive-epistaxis-in-hereditary-hemorrhagic-telangiectasia
#17
Joseph G Parambil, Troy D Woodard, Omer N Koc
Hereditary hemorrhagic telangiectasia (HHT) most commonly manifests with nasal mucosal telangiectasias, and vascular endothelial growth factor (VEGF) plays a significant role in this angiodysplasia. We describe a patient with HHT with epistaxis recalcitrant to several endonasal procedures and six cycles of intravenous bevacizumab, for which he was dependent on iron infusions and packed red blood cells transfusions. He then started pazopanib at 100 mg with dramatic improvements in epistaxis and normalization of hemoglobin and iron levels, without replenishment needs for 12 months...
February 16, 2018: Laryngoscope
https://www.readbyqxmd.com/read/29449337/alk1-activin-receptor-like-kinase-1-loss-results-in-vascular-hyperplasia-in-mice-and-humans-through-pi3k-phosphatidylinositol-3-kinase-activation
#18
Elisenda Alsina-Sanchís, Yaiza García-Ibáñez, Ana M Figueiredo, Carla Riera-Domingo, Agnès Figueras, Xavier Matias-Guiu, Oriol Casanovas, Luisa M Botella, Miquel A Pujana, Antoni Riera-Mestre, Mariona Graupera, Francesc Viñals
OBJECTIVE: ALK1 (activin-receptor like kinase 1) is an endothelial cell-restricted receptor with high affinity for BMP (bone morphogenetic protein) 9 TGF-β (transforming growth factor-β) family member. Loss-of-function mutations in ALK1 cause a subtype of hereditary hemorrhagic telangiectasia-a rare disease characterized by vasculature malformations. Therapeutic strategies are aimed at reducing potential complications because of vascular malformations, but currently, there is no curative treatment for hereditary hemorrhagic telangiectasia...
February 15, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29438260/endothelial-cell-biology-of-endoglin-in-hereditary-hemorrhagic-telangiectasia
#19
Wade W Sugden, Arndt F Siekmann
PURPOSE OF REVIEW: Mutations in the Endoglin (Eng) gene, an auxiliary receptor in the transforming growth factor beta (TGFβ)-superfamily signaling pathway, are responsible for the human vascular disorder hereditary hemorrhagic telangiectasia (HHT) type 1, characterized in part by blood vessel enlargement. A growing body of work has uncovered an autonomous role for Eng in endothelial cells. We will highlight the influence of Eng on distinct cellular behaviors, such as migration and shape control, which are ultimately important for the assignment of proper blood vessel diameters...
February 12, 2018: Current Opinion in Hematology
https://www.readbyqxmd.com/read/29398197/clinical-presentation-and-treatment-paradigms-in-patients-with-hereditary-hemorrhagic-telangiectasia-and-spinal-vascular-malformations
#20
Ilyas Eli, Nicholas T Gamboa, Evan J Joyce, Min S Park, Philipp Taussky, Richard H Schmidt, William T Couldwell, Jamie McDonald, Kevin J Whitehead, M Yashar S Kalani
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that causes angiodysplasia and results in mucocutaneous telangiectasias and arteriovenous malformations of organs. Although central nervous system vascular malformations can occur anywhere along the neuraxis, spinal vascular malformations are rare. We present our experience with the presentation and management of spinal vascular malformations in patients with HHT. Of the more than 800 patients with the diagnosis of HHT screened at our institution from 1995 through 2017, four patients with spinal vascular malformations (age range 1 month-77 years; 2 male, 2 female) were identified, three of whom came to clinical attention after significant neurological deterioration from previously unknown malformations...
February 2, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
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