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hereditary hemorrhagic telangiectasia

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https://www.readbyqxmd.com/read/27895866/liver-findings-in-patients-with-hereditary-hemorrhagic-telangiectasia
#1
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/27878613/intermittent-low-dose-bevacizumab-in-hereditary-hemorrhagic-telangiectasia-a%C3%A2-case-report
#2
Florian Huemer, Martin Dejaco, Christoph Grabmer, Thomas Melchardt, Daniel Neureiter, Georg Mayer, Alexander Egle, Richard Greil, Lukas Weiss
BACKGROUND: Hereditary hemorrhagic telangiectasia is an inherited autosomal dominant disease presenting with recurrent bleeding episodes and iron deficiency anemia due to vascular malformations. Hereditary hemorrhagic telangiectasia is associated with an increased risk of stroke, gastrointestinal bleeding and pulmonary hypertension and life expectancy is significantly reduced. Excess vascular endothelial growth factor (VEGF) plays a key role in the pathophysiology of the disease. CASE PRESENTATION: Here we report about a male patient with hereditary hemorrhagic telangiectasia presenting with pulmonary and central nervous system involvement experiencing repetitive nosebleeds, necessitating frequent local cauterization and transfusion of more than 100 units of packed red blood cells...
November 23, 2016: Wiener Klinische Wochenschrift
https://www.readbyqxmd.com/read/27874028/a-mouse-model-of-hereditary-hemorrhagic-telangiectasia-generated-by-transmammary-delivered-immunoblocking-of-bmp9-and-bmp10
#3
Santiago Ruiz, Haitian Zhao, Pallavi Chandakkar, Prodyot K Chatterjee, Julien Papoin, Lionel Blanc, Christine N Metz, Fabien Campagne, Philippe Marambaud
Hereditary hemorrhagic telangiectasia (HHT) is a potentially life-threatening genetic vascular disorder caused by loss-of-function mutations in the genes encoding activin receptor-like kinase 1 (ALK1), endoglin, Smad4, and bone morphogenetic protein 9 (BMP9). Injections of mouse neonates with BMP9/10 blocking antibodies lead to HHT-like vascular defects in the postnatal retinal angiogenesis model. Mothers and their newborns share the same immunity through the transfer of maternal antibodies during lactation...
November 22, 2016: Scientific Reports
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/27864870/hereditary-hemorrhagic-telangiectasia-to-transplant-or-not-to-transplant
#5
Sophie Dupuis-Girod, Elisabetta Buscarini
This report comments the case reported by Muller et al. which describes a combination of at least two different indications for orthotopic liver transplant (OLT) in a same patient: hepatocarcinoma and HHT complicated with severe liver involvement and high output cardiac failure. This case report highlighted that the clear time for OLT in HHT can be difficult to determine. In HHT, if intensive medical approach is not efficient, OLT, has to be considered. In the case of Muller et al., the patient was correctly listed for OLT for a single hepatocellular carcinoma, however, he did not receive a sufficient priority so as to avoid worsening of liver vascular malformations complications...
December 2016: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/27863666/nasal-powders-of-thalidomide-for-local-treatment-of-nose-bleeding-in-persons-affected-by-hereditary-hemorrhagic-telangiectasia
#6
G Colombo, F Bortolotti, V Chiapponi, F Buttini, F Sonvico, R Invernizzi, F Quaglia, C Danesino, F Pagella, P Russo, R Bettini, P Colombo, A Rossi
In this work nasal powder formulations of thalidomide were designed and studied to be used by persons affected by hereditary hemorrhagic telangiectasia as a complementary anti-epistaxis therapy, with the goal of sustaining the effect obtained with thalidomide oral treatment after its discontinuation for adverse effects. Three nasal powders were prepared using as carriers β-CD or its more hydrophilic derivatives such as hydropropyl-β-CD and sulphobutylether-β-CD and tested with respect to technological and biopharmaceutical features after emission with active and passive nasal powder devices...
November 30, 2016: International Journal of Pharmaceutics
https://www.readbyqxmd.com/read/27861387/open-arterial-reconstruction-of-multiple-hepatic-artery-aneurysms-in-a-patient-with-hereditary-hemorrhagic-telangiectasia-a-case-report
#7
Hirotsugu Ozawa, Takao Ohki, Yuji Kanaoka, Koji Maeda, Shin Hagiwara
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is characterized by mucocutaneous telangiectasia and visceral vascular malformations (VMs). Liver involvement with VMs may lead to high-output cardiac failure, portal hypertension, and biliary disease. There is no curative treatment for the disease, and liver transplantation is indicated for life-threatening complications. Herein, we report a case of multiple hepatic artery aneurysms (HAAs) in a patient with HHT in which open arterial reconstruction was performed...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27860447/fluorescein-guided-intraoperative-endoscopy-in-patients-with-hereditary-hemorrhagic-telangiectasia-first-impressions
#8
Fabio Pagella, Alessandro Pusateri, Dario Zaccari, Daniele Bongetta, Cesare Zoia, Giuseppe Spinozzi, Carla Olivieri, Elina Matti
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disease that results in mucocutaneous telangiectasias and arteriovenous visceral malformations. Nasal telangiectasias lead to recurrent epistaxis, which affects up to 96% of patients. Different morphologic classifications and methods of visualization of nasal lesions have been described in the literature. We developed a new method of intraoperative endoscopy based on the intravenous administration of fluorescein...
November 11, 2016: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/27814895/effect-of-center-volume-on-outcomes-in-hospitalized-patients-with-hereditary-hemorrhagic-telangiectasia
#9
Vivek N Iyer, Waleed Brinjikji, Bibek S Pannu, Dinesh R Apala, Giuseppe Lanzino, Harry J Cloft, Sanjay Misra, Michael J Krowka, Christopher P Wood, Karen L Swanson
OBJECTIVE: To determine whether hospitalized patients with hereditary hemorrhagic telangiectasia (HHT) had better outcomes at high-volume treatment centers (HVCs). PATIENTS AND METHODS: The Nationwide Inpatient Sample (2000-2011) was used to identify HHT-related hospitalizations. Hospitals were classified based on quartiles of annual HHT discharge volume. The 75th percentile cutoff value (third quartile) was used to classify hospitals as low-volume centers (1-7 HHT discharges per year) or as HVCs (≥8 discharges per year...
November 1, 2016: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/27807449/splenic-involvement-in-hereditary-hemorrhagic-telangiectasia
#10
Susumu Takamatsu, Kota Sato, Shunsuke Kato, Hiroto Nagano, Shunro Ohtsukasa, Yasuyuki Kawachi
A 33-year-old man who presented with prolonged epigastric pain was referred to our hospital. He had experienced recurrent epistaxis and had a family history of hereditary hemorrhagic telangiectasia. Computed tomography and magnetic resonance imaging revealed splenomegaly and a 9 cm hypervascular mass in his spleen. Computed tomography also showed a pulmonary arteriovenous malformation and heterogeneous enhancement of the liver parenchyma, suggesting the presence of arteriosystemic shunts and telangiectases...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27801754/intratumoral-vasculopathy-in-leiomyoma-treated-with-tranexamic-acid
#11
Satoru Kudose, Hannah R Krigman
Although intravascular thrombi and infarct-type necrosis have been reported in leiomyomas following with tranexamic acid therapy, intratumoral vasculopathy resembling acute atherosis has not been reported to date in patients without exposure to gonadotropin receptor agonist. We describe a case of intratumoral vasculopathy resembling acute atherosis in a leiomyoma in a 49-year-old woman, with hereditary hemorrhagic telangiectasia and menorrhagia, treated with tranexamic acid. The patient had no exposure to gonadotropin receptor agonists...
October 31, 2016: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/27796677/the-subjective-experience-of-patients-diagnosed-with-hereditary-hemorrhagic-telangiectasia-a-qualitative-study
#12
Laura Geerts, Carole Fantini-Hauwel, Elodie Brugallé, Odile Boute, Frédéric Frénois, Lydie Defrance, Sylvie Manouvrier-Hanu, Florence Petit, Pascal Antoine
The aim of the present study was to understand the context and psychological impact for patients diagnosed with hereditary hemorrhagic telangiectasia (HHT). Semi-structured interviews were conducted with 9 patients affected by HHT, and the transcripts were analyzed using interpretative phenomenological analysis. The results of this study allowed us to propose a new hypothesis to explain the delay in diagnosis: the trivialization of symptoms associated with HHT. Moreover, the results showed that a genetic diagnosis of HHT results in emotional shock, uncertainty about the future, and worry about one's children in parents who are confronted with the dilemma of facing the reality of the diagnosis or delaying dealing with the diagnosis until disease onset...
October 28, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27796042/is-bevacizumab-effective-for-reducing-epistaxis-in-hereditary-hemorrhagic-telangiectasia
#13
Christopher J Chin
No abstract text is available yet for this article.
October 31, 2016: Laryngoscope
https://www.readbyqxmd.com/read/27777480/abdominal-vascular-syndromes-characteristic-imaging-findings
#14
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
#15
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
https://www.readbyqxmd.com/read/27735923/health-screening-behaviors-among-adults-with-hereditary-hemorrhagic-telangiectasia-in-north-america
#16
Melanie Baxter, Lori Erby, Debra Roter, Barbara A Bernhardt, Peter Terry, Alan Guttmacher
PURPOSE: This study aimed to identify factors that influence screening behaviors of adults with hereditary hemorrhagic telangiectasia (HHT). METHODS: Participants with a self-reported diagnosis of HHT were recruited from the HHT Foundation International, Inc.; the "HHT Awareness" Facebook group; and six HHT clinics. A cross-sectional mixed methods survey was administered to investigate the relationships among the Health Belief model constructs, the domains of illness representations, and HHT-specific screening behaviors consistent with recommended guidelines...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27727556/embolisation-of-multiple-pulmonary-arteriovenous-malformations-without-hereditary-hemorrhagic-telangiectasias
#17
Bhagya Suneeta Meegada, Anupam Jena, S V Ramana Murthy, Haribabu N
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/27727478/injections-of-intravenous-contrast-for-computerized-tomography-scans-precipitate-migraines-in-hereditary-hemorrhagic-telangiectasia-subjects-at-risk-of-paradoxical-emboli-implications-for-right-to-left-shunt-risks
#18
Trishan Patel, Amy Elphick, James E Jackson, Claire L Shovlin
OBJECTIVE: To evaluate if injection of intravenous particles may provoke migraines in subjects with right-to-left shunts due to pulmonary arteriovenous malformations (AVMs). BACKGROUND: Migraine headaches commonly affect people with hereditary hemorrhagic telangiectasia (HHT), especially those with pulmonary AVMs that provide right-to-left shunts. In our clinical practice, patients occasionally reported acute precipitation of migraine headaches following injection of technetium-labeled albumin macroaggregates for nuclear medicine scans...
November 2016: Headache
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.
October 6, 2016: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/27646277/defective-fluid-shear-stress-mechanotransduction-mediates-hereditary-hemorrhagic-telangiectasia
#20
Nicolas Baeyens, Bruno Larrivée, Roxana Ola, Brielle Hayward-Piatkowskyi, Alexandre Dubrac, Billy Huang, Tyler D Ross, Brian G Coon, Elizabeth Min, Maya Tsarfati, Haibin Tong, Anne Eichmann, Martin A Schwartz
Morphogenesis of the vascular system is strongly modulated by mechanical forces from blood flow. Hereditary hemorrhagic telangiectasia (HHT) is an inherited autosomal-dominant disease in which arteriovenous malformations and telangiectasias accumulate with age. Most cases are linked to heterozygous mutations in Alk1 or Endoglin, receptors for bone morphogenetic proteins (BMPs) 9 and 10. Evidence suggests that a second hit results in clonal expansion of endothelial cells to form lesions with poor mural cell coverage that spontaneously rupture and bleed...
September 26, 2016: Journal of Cell Biology
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