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hereditary hemorrhagic telangiectasia

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
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
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
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
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...
October 11, 2016: Headache
Michael A Santos
No abstract text is available yet for this article.
October 6, 2016: Journal of General Internal Medicine
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
Christine W Duarte, Adam W Black, F Lee Lucas, Calvin P H Vary
PURPOSE: Hereditary hemorrhagic telangiectasia (HHT) is a genetic disorder characterized by deficiency in endoglin, an angiogenic protein. We previously showed that HHT, in which systemic endoglin expression is reduced, was associated with better survival outcomes in cancer patients (Duarte et al. in Cancer Epidemiol Biomarkers Prev 23:117-125, 2014). Here, we evaluated whether HHT was associated with reduced cancer incidence. METHODS: A matched case-control analysis using SEER Medicare was conducted to evaluate the effect of HHT on diagnosis with breast, colorectal, lung, or prostate cancer between 2000 and 2007 (n = 633,162)...
September 16, 2016: Journal of Cancer Research and Clinical Oncology
Jong Woo Choi, Yeon Hee Joo, Woo Shik Jeong, Yong Ju Jang
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multi-systemic disease that exhibits increasing penetrance with age. Some patients present with severe life-threatening epistaxis which is intractable to all common treatment modalities. A 63-year-old female patient with hereditary hemorrhagic telangiectasia (HHT) presented with recurrent life-threatening epistaxis that required repeated transfusions despite multiple embolizations and septodermoplasty. Previous septodermoplasty failed due to septal perforation...
September 8, 2016: Auris, Nasus, Larynx
Baran Yılmaz, Zafer Orkun Toktaş, Akın Akakın, Semra Işık, Kaya Bilguvar, Türker Kılıç, Murat Günel
OBJECTIVE Brain arteriovenous malformations (AVMs) can occur in patients with hereditary hemorrhagic telangiectasia (HHT). However, brain AVM without HHT has also been reported. Using whole exome sequencing, the authors performed comprehensive genomic characterization of a 6-person Turkish family with 3 cases of brain AVM without HHT. METHODS Three siblings with brain AVM, one of whom also had spinal AVM, were evaluated. The parents and the fourth sibling had no AVM on cranial MRI. The authors performed a whole exome capture and Illumina sequencing on blood samples from 2 siblings with AVM...
September 9, 2016: Journal of Neurosurgery
Junichi Miyamoto, Kyo Niijima
An intracranial dural arteriovenous fistula(dAVF)was incidentally detected in a 39-year-old man during a medical checkup. Except for a mild episode of pneumonia at the age of 22 years, his medical history was unremarkable. He had no family history of hereditary hemorrhagic telangiectasia(HHT). The dAVF was treated radically via ligation of the fistula, without any complications. Postoperative angiography demonstrated that the dAVF had completely healed, but showed an aberrant, dilatated, and tortuous internal mammary artery...
September 2016: No Shinkei Geka. Neurological Surgery
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
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
Wuyang Yang, Judy Huang
No abstract text is available yet for this article.
August 30, 2016: Neurosurgery
Fabio Corvino, Mattia Silvestre, Amedeo Cervo, Francesco Giurazza, Antonio Corvino, Franco Maglione
Pulmonary arteriovenous malformations (PAVMs) are vascular anomalies of the lung and carry the risk of cerebral thromboembolism, brain abscess, or pulmonary hemorrhage. We describe a 64-year-old male with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome) who presented with a five-year history of progressive effort dyspnea and a PAVM in the right upper lobe successfully treated by transcatheter embolization of feeding arteries using a new occlusion device, the ArtVentive Endoluminal Occlusion System™...
September 2016: Diagnostic and Interventional Radiology: Official Journal of the Turkish Society of Radiology
Joseph G Parambil
Hereditary hemorrhagic telangiectasia (HHT) is an underrecognized and underdiagnosed autosomal-dominant angiodysplasia that has an estimated prevalence of 1 in 5000 individuals, with variable clinical presentations even within family members with identical mutations. The most common manifestations are telangiectasias of the skin and nasal mucosa. However, HHT can often be complicated by the presence of arteriovenous malformations and telangiectasias in the lungs, brain, gastrointestinal tract, and liver that are often silent and can lead to life-threatening complications of stroke and hemorrhage...
September 2016: Clinics in Chest Medicine
Giorgos Papaspyrou, Bernhard Schick, Basel Al Kadah
BACKGROUND/AIMS: Extranasal telangiectasias are common amongst hereditary hemorrhagic telangiectasia (HHT) patients. Telangiectasias can be found at sites like the external nose, lips, oral cavity and fingers. Although not life threatening, they can be annoying for patients and lead to bleeding in some cases, necessitating treatment. METHODS: The data of 38 HHT patients treated for extranasal telangiectasias during a period of 10 years by means of Nd:YAG laser were retrospectively analyzed...
August 4, 2016: ORL; Journal for Oto-rhino-laryngology and its related Specialties
Anne Marie Jelsig
Hamartomatous polyps (HPs) in the gastrointestinal (GI) tract are rare compared to other types of GI polyps, yet they are the most common type of polyp in children. The symptoms are usually rectal bleeding, abdominal pain, obstipation, anaemia, and/or small bowel obstruction. The polyps are typically removed concurrently with endoscopy when located in the colon, rectum, or stomach, whereas polyps in the small bowel are removed during push-enteroscopy, device-assisted enteroscopy, or by surgery. HPs can be classified as juvenile polyps or Peutz-Jeghers polyps based on their histopathological appearance...
August 2016: Danish Medical Journal
Waleed Brinjikji, Giuseppe Lanzino
No abstract text is available yet for this article.
July 27, 2016: Neurosurgery
J Q Zhang, Y Dong, Y Yan
No abstract text is available yet for this article.
June 2016: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
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