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hereditary haemorrhagic telangiectasia

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https://www.readbyqxmd.com/read/28430880/cerebral-abscess-associated-with-odontogenic-bacteremias-hypoxemia-and-iron-loading-in-immunocompetent-patients-with-right-to-left-shunting-through-pulmonary-arteriovenous-malformations
#1
E J Boother, S Brownlow, H C Tighe, K B Bamford, J E Jackson, C L Shovlin
Background: Cerebral abscess is a recognised complication of pulmonary arteriovenous malformations (PAVMs) that allow systemic venous blood to bypass the pulmonary capillary bed through anatomic right-to-left shunts. Broader implications and mechanisms remain poorly explored. Methods: Between June 2005 and December 2016, at a single institution, 445 consecutive adult patients with CT-scan confirmed PAVMs (including 403 (90.5%) with hereditary haemorrhagic telangiectasia) were recruited to a prospective series...
April 19, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28248153/hepatic-angiodynamic-profile-in-paediatric-patients-with-hereditary-haemorrhagic-telangiectasia-type-1-and-type-2
#2
Paola Giordano, Mariantonietta Francavilla, Paolo Buonamico, Patrizia Suppressa, Patrizia Lastella, Maria Sangerardi, Vito L Miniello, Arnaldo Scardapane, Gennaro M Lenato, Carlo Sabbà
Liver involvement is a common manifestation of hereditary haemorrhagic telangiectasia (HHT). Although a number of studies have been carried out in adult patients, no study has ever been focused on investigating HHT-related hepatic involvement in paediatric patients. The present study aimed for the first time to systematically estimate the prevalence of HHT-associated liver involvement and to characterize HHT-associated hepatic angiodynamic features in paediatric age. Patients and methods: The study was designed as a cross-sectional survey in an HHT paediatric cohort, subclassified as HHT1 and HHT2 according to the mutated gene...
March 1, 2017: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/28174188/cervical-spine-arteriovenous-fistula-associated-with-hereditary-haemorrhagic-telangiectasia
#3
Iain John McGurgan, Roisin Lonergan, Ronan Killeen, Christopher McGuigan
Reported is a case of a man aged 55 years who presented with progressive spastic paraparesis. Examination demonstrated multiple cutaneous telangiectases. Subsequent development of upper limb weakness, acute urinary retention and eventual respiratory compromise resulted in the requirement for intensive care unit admission and mechanical ventilation. MRI spine revealed diffuse T2 hyperintensity in the cervical cord with enhancement and cord expansion. Immunomodulatory therapy for a presumed diagnosis of transverse myelitis yielded no response, so a vascular aetiology was suspected...
February 7, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28115008/hereditary-hemorrhagic-telangiectasia-liver-disease-and-elevated-serum-testosterone-osler-weber-rendu-syndrome-a-case-report
#4
R Dissanayake, K P K Y M D S Wickramarathne, S N Seneviratne, S N Perera, M U J Fernando, V P Wickramasinghe
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). Evaluations of her jaundice revealed chronic parenchymal liver disease with multiple nodules in the liver with early portal hypertension...
January 23, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28114930/quality-of-life-in-patients-with-hereditary-haemorrhagic-telangiectasia-hht
#5
Roberto Zarrabeitia, Concepción Fariñas-Álvarez, Miguel Santibáñez, Blanca Señaris, Ana Fontalba, Luisa María Botella, José Antonio Parra
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)...
January 23, 2017: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/28064338/-unknown-title
#6
V J Lund, Y Darby, J Rimmer, M Amin, S Husain
INTRODUCTION: Hereditary haemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disease characterized by recurrent epistaxis, mucocutaneous telangiectasia and visceral arteriovenous malformations. The nosebleeds can be life-threatening and in these circumstances, radical treatment is required. METHODS: Since 1994, closure of the nose has been undertaken to prevent severe nasal bleeding in patients meeting specific selection criteria. Outcome data collected on this cohort pre- and post-operatively is available for analysis...
January 8, 2017: Rhinology
https://www.readbyqxmd.com/read/28044006/pulmonary-microvascular-architecture-in-hereditary-haemorrhagic-telangiectasia
#7
Maximilian Ackermann, Steven J Mentzer, Wilfried Roth, Urban Geisthoff, Erich Stoelben
No abstract text is available yet for this article.
January 2, 2017: Thorax
https://www.readbyqxmd.com/read/28040200/follow-up-interval-for-small-untreated-pulmonary-arteriovenous-malformations-in-hereditary-haemorrhagic-telangiectasia
#8
D J Ryan, T M O'Connor, M M Murphy, A P Brady
AIM: To investigate the natural history of untreated small (<3 mm) and microscopic pulmonary arteriovenous malformations (PAVMs) in hereditary haemorrhagic telangiectasia (HHT) in order to discern the optimal frequency of follow-up thoracic computed tomography (CT). MATERIALS AND METHODS: A retrospective analysis was performed on the follow-up data for definite and suspected HHT patients with untreated PAVMs. RESULTS: For small PAVMs in definite HHT (n=13), PAVM enlargement was identified in one patient (1/13, 7...
March 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28011669/rapidly-growing-intraventricular-mass-in-a-patient-with-hereditary-haemorrhagic-telangiectasia
#9
Mai Shimbo, Hiroyuki Watanabe, Yasunori Oguma, Hiroshi Yamamoto, Hiroshi Ito
No abstract text is available yet for this article.
April 1, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/27897192/pi3-kinase-inhibition-improves-vascular-malformations-in-mouse-models-of-hereditary-haemorrhagic-telangiectasia
#10
Roxana Ola, Alexandre Dubrac, Jinah Han, Feng Zhang, Jennifer S Fang, Bruno Larrivée, Monica Lee, Ana A Urarte, Jan R Kraehling, Gael Genet, Karen K Hirschi, William C Sessa, Francesc V Canals, Mariona Graupera, Minhong Yan, Lawrence H Young, Paul S Oh, Anne Eichmann
Activin receptor-like kinase 1 (ALK1) is an endothelial serine-threonine kinase receptor for bone morphogenetic proteins (BMPs) 9 and 10. Inactivating mutations in the ALK1 gene cause hereditary haemorrhagic telangiectasia type 2 (HHT2), a disabling disease characterized by excessive angiogenesis with arteriovenous malformations (AVMs). Here we show that inducible, endothelial-specific homozygous Alk1 inactivation and BMP9/10 ligand blockade both lead to AVM formation in postnatal retinal vessels and internal organs including the gastrointestinal (GI) tract in mice...
November 29, 2016: Nature Communications
https://www.readbyqxmd.com/read/27876060/20-year-follow-up-study-of-danish-hht-patients-survival-and-causes-of-death
#11
Anette Kjeldsen, Katrine Saldern Aagaard, Pernille Mathiesen Tørring, Sören Möller, Anders Green
BACKGROUND: Hereditary Haemorrhagic Telangiectasia (HHT) is a dominantly inheritable disorder, with a wide variety of clinical manifestations due to presence of multiple arteriovenous manifestations. The most common mutations are found in HHT1 (ENG) and HHT2 (ACVRL1) patients, causing alterations in the TGF-β pathway which is responsible for angiogenesis. Modulations of angiogenesis may influence cancer rates. The objective of the study was to evaluate 20-year survival according to HHT subtype, as well as to evaluate differences in causes of death comparing HHT patients and controls...
November 22, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27864873/hereditary-haemorrhagic-telangiectasia-to-transplant-or-not-to-transplant-is-there-a-right-time-for-liver-transplantation
#12
Yannick D Muller, Roland Oppliger, Romain Breguet, Philippe Meyer, Laura Rubbia-Brandt, Pierre-Auguste Petignat, Thomas Harr, Eric Dayer, Jörg D Seebach
BACKGROUND & AIMS: Hereditary haemorrhagic telangiectasia is characterized by arterio-venous malformations (AVM). It frequently involves the liver without clinical symptoms, but may lead to biliary ischaemia, portal hypertension, or fatal high-output heart failure. The indication of liver transplantation is controversial. METHODS: Herein, we report the case of a 65-year-old female patient with a 'double Osler syndrome' consisting of hereditary haemorrhagic telangiectasia (HHT) and type I hereditary angioedema diagnosed at the age of 25 and 22 years respectively...
December 2016: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/27864871/hereditary-haemorrhagic-telangiectasia-to-transplant-or-not-to-transplant
#13
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/27812780/pulmonary-arteriovenous-malformations-embolized-using-a-micro-vascular-plug-system-technical-note-on-a-preliminary-experience
#14
Emanuele Boatta, Christine Jahn, Matthieu Canuet, Julien Garnon, Nitin Ramamurthy, Roberto Luigi Cazzato, Afshin Gangi
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 38.0 years; range 25-55 years) with PAVMs diagnosed on echocardiogram/bubble test and contrast-enhanced CT (CECT) underwent MVP embolization...
February 2017: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/27730189/embolisation-of-pavms-reported-to-improve-nosebleeds-by-a-subgroup-of-patients-with-hereditary-haemorrhagic-telangiectasia
#15
Claire L Shovlin, Trishan Patel, James E Jackson
Pulmonary AVM embolisation appears to improve nosebleed severity for nearly one in six people with HHT http://ow.ly/4mJqip.
April 2016: ERJ Open Research
https://www.readbyqxmd.com/read/27528761/regulation-of-the-alk1-ligands-bmp9-and-bmp10
#16
REVIEW
Wei Li, Richard M Salmon, He Jiang, Nicholas W Morrell
Bone morphogenetic protein (BMP)9 and BMP10 are high affinity ligands for activin receptor-like kinase 1 (ALK1), a type I BMP receptor mainly expressed on vascular endothelial cells (ECs). ALK1-mediated BMP9/BMP10 signalling pathways have emerged as essential in EC biology and in angiogenesis. Several genetic mutations in the genes encoding the ligands and receptors of this pathway have been reported in two cardiovascular diseases, pulmonary arterial hypertension (PAH) and hereditary haemorrhagic telangiectasia (HHT)...
August 15, 2016: Biochemical Society Transactions
https://www.readbyqxmd.com/read/27424345/-hereditary-haemorrhagic-telangiectasia-importance-of-a-multidisciplinary-approach
#17
Françoise Boehlen, Basile N Landis, Laurent Spahr, Anne-Lise Hachulla, Emmanuelle Ranza, Thierry Nouspikel, Frédéric Lador, Kaveh Samii, Stéphane Noble
The Rendu-Osler-Weber disease, also known as hereditary haemorrhagic telangiectasia, is an autosomal dominant inherited disease. Its main manifestations are nosebleeds and digestive tract bleeding due to angiodysplasia. The presence of arteriovenous malformations in organs such as lung, liver, brain, etc. can cause serious complications (haemorrhage, stroke, brain abscess, hypoxemia, increased cardiac output, pulmonary arterial hypertension). Diagnosis is based on clinical criteria and can be confirmed by genetic analysis...
May 25, 2016: Revue Médicale Suisse
https://www.readbyqxmd.com/read/27377139/screening-for-arteriovenous-malformations-in-hereditary-haemorrhagic-telangiectasia
#18
S Jervis, D Skinner
OBJECTIVE: To determine whether patients with hereditary haemorrhagic telangiectasia were being screened according to international guidelines, and to review recent evidence in order to provide up-to-date guidelines for the initial systemic management of hereditary haemorrhagic telangiectasia. METHODS: A retrospective case note analysis was conducted, assessing patients in terms of screening for: genetics, cerebral arteriovenous malformations, pulmonary and hepatic arteriovenous malformations, and gastrointestinal telangiectasia...
August 2016: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/27334289/ischaemic-stroke-in-a-21-year-old-with-hereditary-haemorrhagic-telangiectasia
#19
Ingrid Kane, Alexandra Pitt Ford, Kirsty Lawton, Marius Poitelea, Nicola Gainsborough
A 21-year-old man presented with an acute ischaemic stroke. He had a history of epistaxis and a family history of hereditary haemorrhagic telangiectasia. We gave thrombolysis after some deliberation, and he made a good neurological recovery. This case highlights the link between hereditary haemorrhagic telangiectasia and ischaemic stroke, the potential risks of thrombolysis in such patients and the need to consider pulmonary arteriovenous malformations in patients with stroke.
October 2016: Practical Neurology
https://www.readbyqxmd.com/read/27334082/-a-pregnant-patient-with-spontaneous-haemothorax-hereditary-haemorrhagic-telangiectasia-in-pregnancy
#20
S M Mourad, R Mies, T Frenzel, S Willems, E van der Heijden, L J Schultze Kool
BACKGROUND: The incidence of hereditary haemorrhagic telangiectasia (HHT - Osler-Weber-Rendu disease) in the Netherlands is 1:5000 but approximately 1:1300 in people from the Antilles. The disease is characterised by the development of telangiectasia and arteriovenous malformations (AVMs) that may result in serious morbidity and mortality. CASE DESCRIPTION: A 31-year-old primigravid patient consulted her general practitioner at 31 1/7 weeks gestational age with dyspnoea...
2016: Nederlands Tijdschrift Voor Geneeskunde
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