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    3346 results match your criteria Osler-Weber-Rendu Syndrome

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    Conditional knockout of activin like kinase-1 (ALK-1) leads to heart failure without maladaptive remodeling.
    Heart Vessels 2017 Feb 17. Epub 2017 Feb 17.
    Molecular Cardiology Research Institute and Division of Cardiology, Department of Medicine, Tufts Medical Center, 800 Washington Street, Boston, MA, 02111, USA.
    Activin like kinase-1 (AlK-1) mediates signaling via the transforming growth factor beta (TGFβ) family of ligands. AlK-1 activity promotes endothelial proliferation and migration. Reduced AlK-1 activity is associated with arteriovenous malformations. Read More

    High-Output Heart Failure Contributing to Recurrent Epistaxis Kiesselbach Area Syndrome in a Patient With Hereditary Hemorrhagic Telangiectasia.
    J Investig Med High Impact Case Rep 2017 Jan-Mar;5(1):2324709617692833. Epub 2017 Feb 1.
    East Tennessee State University, Johnson City, TN, USA.
    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. Read More

    Macro- and microcirculation patterns of intrahepatic blood flow changes in patients with hereditary hemorrhagic telangiectasia.
    World J Gastroenterol 2017 Jan;23(3):486-495
    Roland C Schelker, Christina Hart, Wolfgang Herr, Department of Internal Medicine III, Hematology and Oncology, University Hospital of Regensburg, 93051 Regensburg, Germany.
    Aim: To evaluated vascular dynamic processes in the liver of hereditary hemorrhagic telangiectasia (HHT) patients by ultrasound (US) considering quantitative analytic methods.

    Methods: The imaging features on US and contrast-enhanced ultrasound (CEUS) in 18 patients diagnosed with HHT were retrospectively analyzed. Regarding CEUS, real-time contrast harmonic imaging and sulfur hexafluoride-filled microbubbles were used. Read More

    A Survey of Pulmonary Arteriovenous Malformation Screening, Management, and Follow-Up in Hereditary Hemorrhagic Telangiectasia Centers of Excellence.
    Cardiovasc Intervent Radiol 2017 Feb 10. Epub 2017 Feb 10.
    Division of Interventional Radiology, Department of Radiology, Perelman School of Medicine, Hospital of the University of Pennsylvania, 1 Silverstein, 3400 Spruce Street, Philadelphia, PA, 19104, USA.
    Purpose: To determine current practice regarding screening, management, and follow-up of pulmonary arteriovenous malformations (PAVMs), particularly those with feeding arteries <3 mm in diameter, in those patients with hereditary hemorrhagic telangiectasia (HHT) at HHT Centers of Excellence.

    Materials And Methods: A 32-question survey focusing on PAVM screening, management, and follow-up was sent to 147 participants at HHT Centers worldwide.

    Results: Thirty-three responses were received (22%); 60% from interventional radiologists and 20% from pulmonologists; 67% from the USA, 21% European, and 6% Asian. Read More

    Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.
    Pediatr Pulmonol 2017 Feb 6. Epub 2017 Feb 6.
    Service de Pédiatrie, Centre Hospitalier Intercommunal de Créteil, Créteil 94000, France.
    Background: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder that is caused by mutations in mainly two genes, that is ENG, encoding endoglin (HHT1), or ACVRL1, encoding activin receptor-like kinase 1 (ALK-1/HHT2). HHT is characterized by recurrent epistaxis, mucocutaneous telangiectasia, and vascular visceral dysplasia responsible for visceral arteriovenous malformations (AVM).

    Aim: to report the experience of two university hospitals (Trousseau, Paris, and CHIC, Creteil) with screening children for HHT and pulmonary AVM (PAVM) using high resolution computed tomography (HRCT). Read More

    Persistence in Coil-Embolized Pulmonary Arteriovenous Malformations with Feeding Artery Diameters of 3 mm or Less: A Retrospective Single-Center Observational Study.
    J Vasc Interv Radiol 2017 Jan 26. Epub 2017 Jan 26.
    Department of Radiology, Division of Interventional Radiology, and Hereditary Hemorrhagic Telangiectasia Center of Excellence, Hospital of the University of Pennsylvania, Perelman School of Medicine, 1 Silverstein, 3400 Spruce St., Philadelphia, PA19104. Electronic address:
    Purpose: To assess persistence in coil-embolized pulmonary arteriovenous malformations (PAVMs) with feeding artery diameters ≤ 3 mm.

    Materials And Methods: Fifty-eight patients (21 male, 37 female; mean age, 43 y; range, 13-71 y) with 141 simple-type PAVMs treated from 2004 to 2014 were analyzed retrospectively. Inclusion criteria were one or more PAVMs with feeding artery diameters ≤ 3 mm ("small PAVMs"), treatment with coil embolization, and presence of a follow-up chest computed tomographic (CT) angiogram at approximately 6 months. Read More

    Sinonasal quality of life outcomes following laser treatment of epistaxis related to hereditary hemorrhagic telangiectasia.
    Lasers Med Sci 2017 Jan 24. Epub 2017 Jan 24.
    Department of Head and Neck Surgery, David Geffen School of Medicine at the University of California Los Angeles (UCLA), 10833 Le Conte Ave, CHS 62-132, Los Angeles, CA, 90095, USA.
    Hereditary hemorrhagic telangiectasia (HHT) is an inherited vascular disorder which manifests as recurrent, episodic, and potentially debilitating epistaxis. In this study, we aim to (1) characterize baseline sinonasal symptoms for HHT patients and to (2) analyze changes in sinonasal symptoms before and after laser surgical treatment for HHT. We performed a retrospective chart review of sinonasal outcome test-22 (SNOT-22) scores before and after one or more laser surgical treatments for HHT-related epistaxis between January 1, 2010 and December 1, 2015 at a tertiary academic medical center with an HHT Foundation-approved Center of Excellence. Read More

    Hereditary hemorrhagic telangiectasia, liver disease and elevated serum testosterone (Osler-Weber-Rendu syndrome): a case report.
    BMC Res Notes 2017 Jan 23;10(1):58. Epub 2017 Jan 23.
    Department of Paediatrics, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
    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). Read More

    Quality of life in patients with hereditary haemorrhagic telangiectasia (HHT).
    Health Qual Life Outcomes 2017 Jan 23;15(1):19. Epub 2017 Jan 23.
    Department of Radiology, Hospital Universitario Marqués de Valdecilla and Instituto de Investigación Valdecilla (IDIVAL), Santander, Spain.
    Background: There are very few studies about general quality of life parameters, standards for the description of health status and comparison with general population data on patients with Hereditary hemorrhagic telangiectasia (HHT), a rare disease in which epistaxis is a cardinal symptom.

    Purpose: To assess the quality of life in a population of Spanish patients with HHT and compare it with the general population.

    Design And Methods: Between January 1(st) 2005 and December 31(st) 2013, 187 adult patients diagnosed with HHT who were admitted to the HHT Unit of the Hospital Sierrallana, completed on their first visit, the EuroQol 5D-3L (five dimensions and three levels) quality of life descriptive test and the visual analog scale (VAS). Read More

    Influence of temporary nasal occlusion (tNO) on epistaxis frequency in patients with hereditary hemorrhagic telangiectasia (HHT).
    Eur Arch Otorhinolaryngol 2017 Jan 9. Epub 2017 Jan 9.
    Department of Otorhinolaryngology, University of Regensburg, Franz-Josef-Strauss-Allee 11, 93053, Regensburg, Germany.
    The objective of the study was to evaluate the influence of temporary nasal occlusion (tNO) with hypoallergenic tape on the frequency and severity of epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT). This prospective observational study included 20 HHT patients who were undergoing Nd:YAG laser therapy at regular intervals. Over a 3-month period, laser therapy was supplemented by tNO with hypoallergenic tape for 5 h/day on average. Read More

    Bevacizumab and gastrointestinal bleeding in hereditary hemorrhagic telangiectasia.
    World J Gastrointest Surg 2016 Dec;8(12):792-795
    George Ou, Cherry Galorport, Robert Enns, Division of Gastroenterology, Department of Medicine, St. Paul's Hospital, University of British Columbia, Vancouver, BC V6Z 1Y6, Canada.
    We report a case of severe, refractory gastrointestinal (GI) bleeding in a patient with hereditary hemorrhagic telangiectasia (HHT) whose massive transfusion dependence was lifted shortly after treatment with bevacizumab, an anti-vascular endothelial growth factor. The patient's bleeding had been refractory to repeated endoscopic interventions, tranexamic acid, and tamoxifen. However, following treatment with bevacizumab at 5 mg/kg every other week, nearly 300 units of packed red blood cell transfusions were avoided in one year's time. Read More

    The Prevalence of Malformations of Cortical Development in a Pediatric Hereditary Hemorrhagic Telangiectasia Population.
    AJNR Am J Neuroradiol 2017 Feb 10;38(2):383-386. Epub 2016 Nov 10.
    Department of Pediatrics (L.A.S., A.J.W.), Washington University in St. Louis School of Medicine, St. Louis, Missouri.
    Background And Purpose: Brain AVM, cerebral abscess, and ischemic stroke are among the well known neurologic manifestations of hereditary hemorrhagic telangiectasia. However, recently reported data suggest an additional association with malformations of cortical development. The purpose of this study was to determine the prevalence of malformations of cortical development in a population of pediatric patients with hereditary hemorrhagic telangiectasia. Read More

    Hereditary Hemorrhagic Telangiectasia and Myocardial Infarction.
    Int J Angiol 2016 Dec 18;25(5):e81-e83. Epub 2015 May 18.
    Cardiology Service, Insular-Materno Infantil University Hospital, Las Palmas de Gran Canaria, Spain.
    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. Read More

    Arterial ligation versus embolization in epistaxis management: Counterintuitive national trends.
    Laryngoscope 2016 Dec 23. Epub 2016 Dec 23.
    Department of Otolaryngology-Head and Neck Surgery, Rutgers New Jersey Medical School, Newark, New Jersey, U.S.A.
    Objectives/hypothesis: Arterial ligation and embolization are treatment modalities indicated in severe and refractory epistaxis. The purpose of this study was to examine temporal trends and compare outcomes in treatment of hospitalized epistaxis patients with ligation or embolization.

    Methods: This retrospective cohort analysis utilized the 2008 to 2013 National Inpatient Sample to identify patients admitted with a primary diagnosis of epistaxis, and an associated procedure code for ligation or embolization. Read More

    De Novo Vascular Lesions After Liver Transplant in a Case With Hereditary Hemorrhagic Telangiectasia and Fibropolycystic Liver Disease: Long-Term Follow-Up With Magnetic Resonance Imaging and Magnetic Resonance Angiography.
    Exp Clin Transplant 2016 Dec 22. Epub 2016 Dec 22.
    From the Department of Radiology, Acibadem University School of Medicine, Istanbul, Turkey.
    We report a case of a 62-year-old woman who received a liver transplant 19 years previously for end-stage liver disease due to hereditary hemorrhagic telangiectasia and fibropolycystic liver disease. During long-term follow-up 8 years after the liver transplant, de novo vascular lesions were detected with magnetic resonance imaging and magnetic resonance angiography. Hepatic vascular lesions had slowly progressed, despite no symptoms. Read More

    [A rare cardiomegaly].
    G Ital Cardiol (Rome) 2016 Nov;17(11):947-950
    U.O.C. Cardiologia Riabilitativa, Ospedale Riabilitativo di Alta Specialità, Motta di Livenza (TV).
    We present the case of a patient who came to our attention for enlargement of the cardiac silhouette on chest X-ray. Echocardiography showed moderate diastolic overload of both ventricles with enhanced cardiac output without valvular disease or cardiac shunt that could account for this cardiomegaly. A subsequent abdominal echocardiographic exploration showed an angiomatous transformation of the liver due to diffuse lacunar enlargement of hepatic portal vein branches and arterial-venous shunts. Read More

    Liver Findings in Patients with Hereditary Hemorrhagic Telangiectasia.
    Iran J Radiol 2016 Oct 22;13(4):e31116. Epub 2016 Jun 22.
    Beijing Artificial Liver Treatment and Training Center, Beijing YouAn Hospital, Capital Medical University, Beijing, China.
    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. Read More

    Intermittent low-dose bevacizumab in hereditary hemorrhagic telangiectasia : A case report.
    Wien Klin Wochenschr 2016 Nov 23. Epub 2016 Nov 23.
    IIIrd Medical Department with Haematology, Medical Oncology, Haemostaseology, Infectious Diseases and Rheumathology, Oncologic Center, Paracelsus Medical University, Muellner Hauptstraße 48, 5020, Salzburg, Austria.
    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. Read More

    A mouse model of hereditary hemorrhagic telangiectasia generated by transmammary-delivered immunoblocking of BMP9 and BMP10.
    Sci Rep 2016 Nov 22;5:37366. Epub 2016 Nov 22.
    Litwin-Zucker Research Center for the Study of Alzheimer's Disease, The Feinstein Institute for Medical Research, Manhasset, NY, USA.
    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. Read More

    Hereditary haemorrhagic telangiectasia: to transplant or not to transplant?
    Liver Int 2016 Dec;36(12):1745-1747
    Interdisciplinary Department of Medicine, University of Bari School of Medicine, Bari, Italy.
    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. Read More

    Hereditary hemorrhagic telangiectasia: to transplant or not to transplant?
    Liver Int 2016 Dec;36(12):1741-1744
    Gastroenterology and Endoscopy Department, Reference Center for Hereditary Hemorrhagic Telangiectasia, Maggiore Hospital, ASST Crema, Crema, Italy.
    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. Read More

    Nasal powders of thalidomide for local treatment of nose bleeding in persons affected by hereditary hemorrhagic telangiectasia.
    Int J Pharm 2016 Nov;514(1):229-237
    Department of Pharmacy, University of Parma, Parco Area delle Scienze 27/A, 43124 Parma, Italy. Electronic address:
    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. For all formulated powders, improved dissolution rate was found compared to that of the raw material, making thalidomide promptly available in the nasal environment at a concentration favouring an accumulation in the mucosa. Read More

    Open arterial reconstruction of multiple hepatic artery aneurysms in a patient with hereditary hemorrhagic telangiectasia: A case report.
    Medicine (Baltimore) 2016 Nov;95(46):e5430
    Division of Vascular Surgery, Department of Surgery, Jikei University School of Medicine, Tokyo, Japan.
    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. Read More

    Fluorescein-guided intraoperative endoscopy in patients with hereditary hemorrhagic telangiectasia: first impressions.
    Int Forum Allergy Rhinol 2016 Nov 11. Epub 2016 Nov 11.
    Department of Otorhinolaryngology, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, (I.R.C.C.S.) Policlinico San Matteo, University of Pavia, Italy.
    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. Read More

    Comprehensive management of hereditary hemorrhagic telangiectasia.
    Curr Opin Otolaryngol Head Neck Surg 2017 Feb;25(1):64-68
    aBecker Nose and Sinus Center, Robbinsville/Hamilton, New Jersey bDepartment of Otolaryngology-Head and Neck Surgery, Emory University, Atlanta, Georgia, USA.
    Purpose Of Review: Hereditary hemorrhagic telangiectasia (HHT), or Osler Weber-Rendu disease, is a rare inherited disorder of fibrovascular tissue affecting various organs. Epistaxis is the most common symptom of HHT but as the disease affects multiple organs, a multisystem and multidisciplinary approach to management is required. The purpose of this article is to provide an overview of the multidisciplinary approach to HHT for the otolaryngologist and to discuss the current pharmacologic and procedural treatment options available for HHT-related epistaxis. Read More

    Cancer and hereditary haemorrhagic telangiectasia.
    J Cancer Res Clin Oncol 2017 Feb 11;143(2):369-370. Epub 2016 Nov 11.
    Respiratory Medicine, Imperial College Healthcare NHS Trust, London, UK.
    Objective: To examine associations between cancer incidence and hereditary haemorrhagic telangiectasia (HHT).

    Methods: Two studies with contrasting conclusions were compared. The first had used a registry-based, matched-pairs approach, while the second utilised HHT family-based, survey methodology. Read More

    Diffuse Cavernous Hemangioma of the Colon.
    Acta Gastroenterol Belg 2016 Jul-Sep;79(3):393-394
    A 70-year-old man was admitted to our clinic with a history of rectal bleeding and constipation, his colonoscopy revealed varicosities and bluish nodular lesions of the rectum (Figure 1). Abdominal CT showed multiple nodular lesions beginning from the distal descending colon and extending to the rectum, calcifications suggesting phleboliths were also seen in these lesions. A contrast enhanced pelvic MRI demonstrated multiple tubular lesions showing hyperintensity on T2-weighted images and hypointensity on T1-weighted images, consistent with the affected areas on the CT scan (Figure 2). Read More

    Effect of Center Volume on Outcomes in Hospitalized Patients With Hereditary Hemorrhagic Telangiectasia.
    Mayo Clin Proc 2016 Dec 1;91(12):1753-1760. Epub 2016 Nov 1.
    Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Scottsdale, AZ.
    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. Read More

    Pulmonary Arteriovenous Malformations Embolized Using a Micro Vascular Plug System: Technical Note on a Preliminary Experience.
    Cardiovasc Intervent Radiol 2017 Feb 3;40(2):296-301. Epub 2016 Nov 3.
    Service de Imagerie Interventionelle, Nouvel Hôpital Civil, Hôpitaux Universitaires de Strasbourg, Place de l'Hôpital, 67000, Strasbourg, France.
    Aim: To report our preliminary experience using a Micro Vascular Plug (MVP) deployed through a 2.8Fr micro-catheter for the treatment of pulmonary arteriovenous malformations (PAVMs) in a cohort of patients affected by Hereditary Haemorrhagic Telangiectasia (HHT).

    Materials And Methods: Four consecutive female patients (mean age 38. Read More

    Splenic Involvement in Hereditary Hemorrhagic Telangiectasia.
    Case Rep Med 2016 11;2016:3212947. Epub 2016 Oct 11.
    Department of Surgery, Musashino Red Cross Hospital, 1-26-1 Kyonan-cho, Musashino-shi, Tokyo 180-8610, Japan.
    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. Read More

    Pancytopenia in a Patient with Rendu-Osler-Weber Syndrome and Uncommon Vascular Abnormalities.
    Case Rep Hematol 2016 10;2016:3016402. Epub 2016 Oct 10.
    Department of Internal Medicine, Agostino Gemelli University Hospital, Catholic University of Sacred Heart, Rome, Italy.
    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. In the absence of other evident causes of pancytopenia, hypersplenism was diagnosed. Read More

    Intratumoral Vasculopathy in Leiomyoma Treated With Tranexamic Acid.
    Int J Gynecol Pathol 2016 Oct 31. Epub 2016 Oct 31.
    Department of Pathology and Immunology (S.K., H.R.K.), Washington University School of Medicine, St Louis, Missouri.
    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. Read More

    The Subjective Experience of Patients Diagnosed with Hereditary Hemorrhagic Telangiectasia: a Qualitative Study.
    J Genet Couns 2016 Oct 28. Epub 2016 Oct 28.
    Université de Lille, CNRS, UMR 9193 - SCALab - Sciences Cognitives et Sciences Affectives, F-59000, Lille, France.
    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. Read More

    Abdominal vascular syndromes: characteristic imaging findings.
    Radiol Bras 2016 Jul-Aug;49(4):257-263
    Tenured Associate Professor in the Department of Diagnostic Imaging of the Escola Paulista de Medicina da Universidade Federal de São Paulo (EPM-Unifesp), São Paulo, SP, Brazil.
    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. Read More

    Can Iron Treatments Aggravate Epistaxis in Some Patients With Hereditary Hemorrhagic Telangiectasia?
    Laryngoscope 2016 Nov 23;126(11):2468-2474. Epub 2016 Apr 23.
    Cardiovascular Sciences, National Heart and Lung Institute, Imperial College London, London, United Kingdom.
    Objectives/hypothesis: To examine whether there is a rationale for iron treatments precipitating nosebleeds (epistaxis) in a subgroup of patients with hereditary hemorrhagic telangiectasia (HHT).

    Study Design: Survey evaluation of HHT patients, and a randomized control trial in healthy volunteers.

    Methods: Nosebleed severity in response to iron treatments and standard investigations were evaluated by unbiased surveys in patients with HHT. Read More

    Prevalence and characteristics of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a systematic review and meta-analysis.
    J Neurosurg 2016 Oct 21:1-9. Epub 2016 Oct 21.
    Neurosurgery, Mayo Clinic, Rochester, Minnesota.
    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. Read More

    Health screening behaviors among adults with hereditary hemorrhagic telangiectasia in North America.
    Genet Med 2016 Oct 13. Epub 2016 Oct 13.
    The Permanent Fund for Vermont's Children, Burlington, Vermont, USA.
    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. Read More

    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.
    Headache 2016 Nov 11;56(10):1659-1663. Epub 2016 Oct 11.
    NHLI Cardiovascular Sciences, Imperial College London, UK.
    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. Read More

    Defective fluid shear stress mechanotransduction mediates hereditary hemorrhagic telangiectasia.
    J Cell Biol 2016 Sep 19;214(7):807-16. Epub 2016 Sep 19.
    Department of Medicine (Cardiology), Yale University School of Medicine, New Haven, CT 06511 Department of Cell Biology, Yale University, New Haven, CT 06510 Department of Biomedical Engineering, Yale University, New Haven, CT 06510
    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. Read More

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