keyword
MENU ▼
Read by QxMD icon Read
search

hereditary hemorrhagic telangiectasia

keyword
https://www.readbyqxmd.com/read/28810087/multiple-pulmonary-arteriovenous-malformations-an-unusual-cause-of-shortness-of-breath-and-recurrent-strokes
#1
Kalyan C Potu, Shenjing Li, Shawn C Kelly, Julia A Prescott-Focht, Scott Pham
OBJECTIVE: To discuss an uncommon case of a patient with multiple pulmonary arteriovenous malformations (PAVMs) presenting with dyspnea on exertion and recurrent strokes. BACKGROUND: A 79-year-old woman with recent onset recurrent cerebrovascular accidents (CVAs) was referred to cardiology for evaluation of dyspnea on exertion. Clinical examination was unrevealing. METHODS: A transthoracic echocardiogram (TTE) with agitated saline was suggestive of an extra-cardiac shunt...
February 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28808569/study-and-therapeutic-progress-on-spinal-cord-perimedullary-arteriovenous-fistulas
#2
Tiefeng Ji, Yunbao Guo, Lei Shi, Jinlu Yu
Spinal cord perimedullary arteriovenous fistulas (PMAVFs) are rare and belong to type IV spinal cord arteriovenous malformations (AVMs). Little is known regarding the treatment and prognosis of spinal cord PMAVFs. In the present study the relevant literature from PubMed was reviewed, and it was found that these fistulas can occur at all ages but are more common in children. In children, most spinal cord PMAVFs are large and with high flow, begin with bleeding and are frequently associated with hereditary hemorrhagic telangiectasia...
September 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28796572/endoglin-and-alk1-as-therapeutic-targets-for-hereditary-hemorrhagic-telangiectasia
#3
Lidia Ruiz-Llorente, Eunate Gallardo-Vara, Elisa Rossi, David M Smadja, Luisa M Botella, Carmelo Bernabeu
Hereditary Haemorrhagic Telangiectasia (HHT) is as an autosomal dominant trait characterized by frequent nose bleeds, mucocutaneous telangiectases, arteriovenous malformations (AVMs) of the lung, liver and brain, and gastrointestinal bleedings due to telangiectases. HHT is originated by mutations in genes whose encoded proteins are involved in the transforming growth factor β (TGF-β) family signalling of vascular endothelial cells. In spite of the great advances in the diagnosis as well as in the molecular, cellular and animal models of HHT, the current treatments remain just at the palliative level...
August 10, 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28794352/thalidomide-for-hereditary-hemorrhagic-telangiectasia-with-pulmonary-arterial-hypertension
#4
Tomohisa Nakamura, Takeshi Ogo, Nobuhiro Tahara, Shigefumi Fukui, Akihiro Tsuji, Jin Ueda, Yoshihiro Fukumoto, Norifumi Nakanishi, Hisao Ogawa, Satoshi Yasuda
No abstract text is available yet for this article.
August 10, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28775059/basal-ganglia-t1-hyperintensity-in-hereditary-hemorrhagic-telangiectasia
#5
A Parvinian, V N Iyer, B S Pannu, D R Apala, C P Wood, W Brinjikji
BACKGROUND AND PURPOSE: The implications of basal ganglia T1 hyperintensity remain unclear in patients with hereditary hemorrhagic telangiectasia. This study was performed to assess the prevalence of this imaging finding in a large cohort of patients with hereditary hemorrhagic telangiectasia and to identify any association between this phenomenon and other disease manifestations. MATERIALS AND METHODS: In this retrospective study, we identified all patients at our institution diagnosed with definite hereditary hemorrhagic telangiectasia from 2001 to 2017...
August 3, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/28759897/pulmonary-hypertension-in-a-patient-with-hereditary-hemorrhagic-telangiectasia
#6
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
#7
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/28746925/pulmonary-arteriovenous-malformations-are-associated-with-silent-brain-infarcts-in-hereditary-hemorrhagic-telangiectasia-patients
#8
Waleed Brinjikji, Deena M Nasr, Christopher P Wood, Vivek N Iyer
BACKGROUND AND PURPOSE: There is a high prevalence of right-to-left shunting pulmonary arteriovenous malformations (PAVMs), which are stroke risk factors, in hereditary hemorrhagic telangiectasia (HHT) patients. While the prevalence of ischemic complications in HHT patients is known, the prevalence of silent brain infarcts (SBI) remains unknown. The purpose of this study was to determine the prevalence and risk factors for SBI in HHT patients. MATERIALS AND METHODS: Our institutional HHT database was queried to identify HHT patients who received a baseline screening brain MRI from January 2000 to February 2017...
July 27, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28743113/pulmonary-hypertension-in-a-large-cohort-with-hereditary-hemorrhagic-telangiectasia
#9
Veronique Vorselaars, Sebastiaan Velthuis, Marco van Gent, Cornelis Westermann, Repke Snijder, Johannes Mager, Martijn Post
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder characterized by arteriovenous malformations in the brain, liver, and lungs. Pulmonary hypertension (PH) is increasingly recognized as a severe complication of HHT. However, there are no studies describing the prevalence of PH in HHT compared to HHT-negative controls. OBJECTIVE: To assess the estimated prevalence of PH in patients with HHT compared to HHT-negative controls. METHODS: All consecutive subjects screened for HHT with available genetic testing and echocardiography-based peak tricuspid regurgitation velocity (TRV) measurement were included...
July 26, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28716646/pulmonary-infarction-in-the-beginning-the-natural-history-of-pulmonary-infarction
#10
Peter B Terry, Philip Clay Buescher
BACKGROUND: Massive pulmonary emboli can cause an abrupt onset of symptoms simultaneous with large pulmonary artery occlusions. In contrast, the temporal relationship between pulmonary vascular occlusion by smaller emboli and the development of symptoms of pulmonary infarction is unknown. We describe the time interval between embolization and the onset of clinical symptoms and signs compatible with pulmonary infarction. METHODS: We examined the records of 56 patients with hereditary hemorrhagic telangiectasia (HHT) who underwent therapeutic balloon embolization of pulmonary arteriovenous malformation (PAVM) in a single center after noting that some of them experienced symptoms and signs compatible with pulmonary infarction...
July 14, 2017: Chest
https://www.readbyqxmd.com/read/28696852/imaging-of-pregnancy-related-vascular-complications
#11
R Scooter Plowman, Cylen Javidan-Nejad, Constantine A Raptis, Douglas S Katz, Vincent M Mellnick, Sanjeev Bhalla, Patricia Cornejo, Christine O Menias
Pregnancy results in substantial hemodynamic and prothrombotic changes that form the foundation for downstream vascular complications, both during pregnancy and in the postpartum period. In addition, several important risk factors, including older patient age, diabetes, and smoking, can increase the risk for vascular-related pregnancy complications. Because radiologists often play an important role in evaluation of the pregnant patient, understanding the pathophysiology of vascular-related complications in pregnancy and their imaging appearances is essential for diagnostic accuracy...
July 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28696502/linking-brain-arteriovenous-malformations-with-anorectal-hemorrhoids-a-clinical-and-anatomical-review
#12
REVIEW
Joshua A Cuoco, Christopher L Hoehmann, Kyle Hitscherich, Sherry M Zakhary, Joerg R Leheste, German Torres
Patients who harbor brain arteriovenous malformations are at risk for intracranial hemorrhage. These malformations are often seen in inherited vascular diseases such as hereditary hemorrhagic telangiectasia. However, malformations within the brain also sporadically occur without a hereditary-coding component. Here, we review recent insights into the pathophysiology of arteriovenous malformations, in particular, certain signaling pathways that might underlie endothelial cell pathology. To better interpret the origins, determinants and consequences of brain arteriovenous malformations, we present a clinical case to illustrate the phenotypic landscape of the disease...
July 11, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28687708/germline-loss-of-function-mutations-in-ephb4-cause-a-second-form-of-capillary-malformation-arteriovenous-malformation-cm-avm2-deregulating-ras-mapk-signaling
#13
Mustapha Amyere, Nicole Revencu, Raphaël Helaers, Eleonore Pairet, Eulalia Baselga, Maria R Cordisco, Wendy K Chung, Josée Dubois, Jean-Philippe Lacour, Loreto Martorell, Juliette Mazereeuw-Hautier, Reed E Pyeritz, David J Amor, Annouk Bisdorff, Francine Blei, Hannah Bombei, Anne Dompmartin, David G Brooks, Juliette Dupont, Maria A González-Enseñat, Ilona J Frieden, Marion Gérard, Malin Kvarnung, Andrea Kwan Hanson-Kahn, Louanne Hudgins, Christine Léauté-Labrèze, Catherine McCuaig, Denise Metry, Philippe Parent, Carle Paul, Florence Petit, Alice Phan, Isabelle Quéré, Aicha Salhi, Anne M Turner, Pierre Vabres, Asuncion Vicente, Orli Wargon, Shoji Watanabe, Lisa Weibel, Ashley Wilson, Marcia Willing, John B Mulliken, Laurence M Boon, Miikka Vikkula
Background -Most AVMs are localized and occur sporadically; however they also can be multifocal in autosomal dominant disorders, such as Hereditary Hemorrhagic Telangiectasia (HHT) and Capillary Malformation-Arteriovenous Malformation (CM-AVM). Previously, we identified RASA1 mutations in 50% of patients with CM-AVM. Herein we studied non-RASA1 patients to further elucidate the pathogenicity of CMs and AVMs. Methods -We conducted a genome-wide linkage study on a CM-AVM family. Whole exome sequencing was also performed on 9 unrelated CM-AVM families...
July 7, 2017: Circulation
https://www.readbyqxmd.com/read/28671294/osteonecrosis-after-intranasal-injection-with-bevacizumab-in-treating-hereditary-hemorrhagic-telangiectasia-a-case-report
#14
Johan Steineger, Else Merckoll, John Magnar Slåstad, Erik Fink Eriksen, Ketil Heimdal, Sinan Dheyauldeen
Intranasal bevacizumab injections have been used in treating hereditary hemorrhagic telangiectasia (HHT)-related epistaxis since 2009. It is believed to be a safe and effective treatment for a selected group of HHT patients in reducing frequency and intensity of epistaxis, with few or none adverse effects. In this case report, however, we will describe a patient who developed bilateral osteonecrosis in the knees while undergoing regular intranasal submucosal bevacizumab injections. Although osteonecrosis previously has been documented in patients receiving bevacizumab intravenously in oncologic doses, thus far it has not been reported in patients treated with intranasal submucosal injections...
July 3, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28670610/in-vivo-characterization-of-abnormalities-in-small-bowel-diseases-using-probe-based-confocal-laser-endomicroscopy
#15
Naoki Ohmiya, Noriyuki Horiguchi, Tomomitsu Tahara, Mitsuo Nagasaka, Yoshihito Nakagawa, Tomoyuki Shibata, Tetsuya Tsukamoto, Makoto Kuroda
BACKGROUND AND STUDY AIMS:  Probe-based confocal laser endomicroscopy (pCLE) enables real-time optical biopsy. Little is known about pCLE imaging deep inside the small bowel, therefore the aim of this study was to determine its usefulness. PATIENTS AND METHODS:  Between April 2014 and January 2016, we performed 38 pCLE examinations during double-balloon enteroscopy with intravenous fluorescein in 37 patients with: tumors (n = 10), vascular disorders (n = 6), inflammatory diseases and drug injuries (n = 13), other disorders (n = 4), and normal findings (n = 4)...
July 2017: Endoscopy International Open
https://www.readbyqxmd.com/read/28638289/diagnosis-and-treatment-of-hereditary-hemorrhagic-telangiectasia
#16
REVIEW
Cameron Grigg, Daniel Anderson, James Earnshaw
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is a rare genetic disorder known for its debilitating symptoms. More than 90% of patients with HHT experience epistaxis, and they average up to 18 bleeds per month. We review the current literature on the pathophysiology, clinical presentation, and management of HHT. METHODS: We searched MEDLINE, EMBASE, and PubMed and identified 19 articles published since 2000 with current information on HHT. RESULTS: HHT is a disease more commonly associated with significant morbidity rather than mortality...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/28636740/initial-experience-of-a-hereditary-hemorrhagic-telangiectasia-center-of-excellence
#17
Christopher F Thompson, Jeffrey D Suh, Justin McWilliams, Gary Duckwiler, Marilene B Wang
Our objectives in reviewing the initial experience of a hereditary hemorrhagic telangiectasia center of excellence (HHT COE) were to better understand the interventions being performed in the comprehensive care of these patients and to present the early data as a reference for other tertiary centers considering starting an HHT COE. We conducted a retrospective review of consecutive patients referred to our newly developed HHT COE for evaluation and treatment between May 2010 and June 2013. Clinical presentation, otolaryngologic treatments, and other operative interventions were analyzed...
June 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28626375/intravenous-bevacizumab-therapy-in-a-patient-with-hereditary-hemorrhagic-telangiectasia-eng-e137k-alcoholic-cirrhosis-and-portal-hypertension
#18
Luigi F Bertoli, Pauline L Lee, Lauren Lallone, James C Barton
Intravenous bevacizumab decreased mucosal bleeding in some patients with hereditary hemorrhagic telangiectasia (HHT). We treated a 47-year-old male who had HHT, severe epistaxis, and gastrointestinal bleeding, alcoholic cirrhosis, and portal hypertension with intravenous bevacizumab 2.5 mg/kg every 2 weeks. We tabulated these measures weekly during weeks 1-33 (no bevacizumab); 34-57 (bevacizumab); and 58-97 (no bevacizumab): hemoglobin (Hb) levels; platelet counts; units of transfused packed erythrocytes (PRBC units); and quantities of iron infused as iron dextran to support erythropoiesis...
May 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28619257/withdrawn-the-role-of-capsule-endoscopy-and-device-assisted-enteroscopy-for-small-bowel-lesions-in-hereditary-hemorrhagic-telangiectasia
#19
Rossella Cianci, Riccardo Urgesi, Annalisa Tortora, Arianna Amato, Estelle E Newton, Guido Costamagna, Maria Elena Riccioni
This article has been withdrawn at the request of the author(s) and/or editor. The Publisher apologizes for any inconvenience this may cause. The full Elsevier Policy on Article Withdrawal can be found at https://www.elsevier.com/about/our-business/policies/article-withdrawal.
May 25, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28615135/combined-therapy-for-epistaxis-by-hereditary-hemorrhagic-teleangiectasia-a-3-year-follow-up-study-on-45-patients
#20
Giorgos Papaspyrou, Dietmar Hecker, Maximilian Linxweiler, Bernhard Schick, Basel Al Kadah
Hereditary hemorrhagic telangiectasia (HHT) is a mutilating disease associated with the majority of patients with recurrent epistaxis episodes. The aim of this study was to present a single institution experience with patients treated for nasal epistaxis using a combination of Nd:YAG laser and argon plasma coagulation (APC) vs Nd:YAG laser alone, with a minimum follow-up of 3 years. 45 patients (21 men, 24 women) aged from 15 to 84 years with the diagnosis of HHT were treated in the Department of Otolaryngology, Head and Neck Surgery in Homburg/Saar between 10/2002 and 10/2012 because of epistaxis, using a combination of Nd:YAG laser and APC or Nd:YAG laser alone...
May 24, 2017: Journal of Cranio-maxillo-facial Surgery
keyword
keyword
34216
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"