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hereditary haemorrhagic telangiectasia

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#1
P Stokes, J Rimmer
BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) remains a difficult disease for the ENT specialist to manage. Affected patients often report recurrent epistaxis as the most debilitating symptom. The pathogenesis of the disease is due to genetic mutations affecting angiogenesis. For this reason, the anti-angiogenic therapy bevacizumab has gained popularity in the local treatment of epistaxis in patients with HHT. OBJECTIVE: A systematic review of the efficacy of bevacizumab in local treatment of epistaxis in patients with HHT based on epistaxis duration, frequency, severity and impact on quality of life...
November 22, 2017: Rhinology
https://www.readbyqxmd.com/read/29141890/british-thoracic-society-clinical-statement-on-pulmonary-arteriovenous-malformations
#2
Claire L Shovlin, Robin Condliffe, James W Donaldson, David G Kiely, Stephen J Wort
Pulmonary arteriovenous malformations (PAVMs) are structurally abnormal vascular communications that provide a continuous right-to-left shunt between pulmonary arteries and veins. Their importance stems from the risks they pose (>1 in 4 patients will have a paradoxical embolic stroke, abscess or myocardial infarction while life-threatening haemorrhage affects 1 in 100 women in pregnancy), opportunities for risk prevention, surprisingly high prevalence and under-appreciation, thus representing a challenging condition for practising healthcare professionals...
December 2017: Thorax
https://www.readbyqxmd.com/read/29141834/successful-treatment-of-hereditary-haemorrhagic-telangiectasia-using-595-nm-pulsed-dye-laser
#3
Junko Nishikawa, Norikazu Fujii, Takeshi Kato, Toshihiro Tanaka, Noriki Fujimoto
No abstract text is available yet for this article.
November 15, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29068144/branch-retinal-artery-occlusion-as-a-clinical-manifestation-of-hereditary-haemorrhagic-telangiectasia-osler-weber-rendu-syndrome-in-pregnancy
#4
Andreas J Askim, Alexander S Thrane, Petter Giaever, Rune Andersen, Jørgen Krohn
No abstract text is available yet for this article.
October 25, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29018941/pulmonary-arteriovenous-malformations-in-hereditary-haemorrhagic-telangiectasia-correlations-between-computed-tomography-findings-and-cerebral-complications
#5
Johan Etievant, Salim Si-Mohamed, Nicolas Vinurel, Sophie Dupuis-Girod, Evelyne Decullier, Delphine Gamondes, Chahera Khouatra, Vincent Cottin, Didier Revel
OBJECTIVES: Computed tomography (CT) is the modality of choice to characterise pulmonary arteriovenous malformations (PAVMs) in patients with hereditary haemorrhagic telangiectasia (HHT). Our objective was to determine if CT findings were associated with frequency of brain abscess and ischaemic stroke. METHODS: This retrospective study included patients with HHT-related PAVMs. CT results, i.e. PAVM presentation (unique, multiple, disseminated or diffuse), the number of PAVMs and the largest feeding artery size, were correlated to prevalence of ischaemic stroke and brain abscess...
October 10, 2017: European Radiology
https://www.readbyqxmd.com/read/28981519/pulmonary-hypertension-subtypes-associated-with-hereditary-haemorrhagic-telangiectasia-haemodynamic-profiles-and-survival-probability
#6
Sabine Revuz, Evelyne Decullier, Isabelle Ginon, Nicolas Lamblin, Pierre-Yves Hatron, Pierre Kaminsky, Marie-France Carette, Pascal Lacombe, Anne-Claire Simon, Sophie Rivière, Jean-Robert Harlé, Alain Fraisse, Christian Lavigne, Vanessa Leguy-Seguin, Ari Chaouat, Chahera Khouatra, Sophie Dupuis-Girod, Eric Hachulla
BACKGROUND: Different pulmonary hypertension (PH) mechanisms are associated with hereditary haemorrhagic telangiectasia (HHT). METHODS AND RESULTS: We conducted a retrospective study of all suspected cases of PH (echocardiographically estimated systolic pulmonary artery pressure [sPAP] ≥ 40 mmHg) in patients with definite HHT recorded in the French National Reference Centre for HHT database. When right heart catheterization (RHC) was performed, PH cases were confirmed and classified among the PH groups according to the European guidelines...
2017: PloS One
https://www.readbyqxmd.com/read/28874282/smad4-gene-mutation-increases-the-risk-of-aortic-dilation-in-patients-with-hereditary-haemorrhagic-telangiectasia
#7
V M M Vorselaars, A Diederik, V Prabhudesai, S Velthuis, J-A Vos, R J Snijder, C J J Westermann, B J Mulder, J K Ploos van Amstel, J J Mager, M E Faughnan, M C Post
BACKGROUND: Mutations in the genes ENG, ACVRL1 and SMAD4 that are part of the transforming growth factor-beta signalling pathway cause hereditary haemorrhagic telangiectasia (HHT). Mutations in non-HHT genes within this same pathway have been found to associate with aortic dilation. Therefore, we investigated the presence of aortic dilation in a large cohort of HHT patients as compared to non-HHT controls. METHODS: Chest computed tomography of consecutive HHT patients (ENG, ACVRL1 and SMAD4 mutation carriers) and non-HHT controls were reviewed...
October 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28796572/endoglin-and-alk1-as-therapeutic-targets-for-hereditary-hemorrhagic-telangiectasia
#8
REVIEW
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...
October 2017: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/28652319/nintedanib-as-a-novel-treatment-option-in-hereditary-haemorrhagic-telangiectasia
#9
Evelin Kovacs-Sipos, David Holzmann, Thomas Scherer, Michael B Soyka
A 70-year-old patient with known hereditary haemorrhagictelangiectasia (HHT) was seen regularly in our outpatient clinic. He underwent multiple therapeutical interventions, including both surgical and medical, for the treatment of recurrent epistaxis without sustained success. Due to a concurrent diagnosis of idiopathic pulmonary fibrosis, treatment with the tyrosine kinase inhibitor nintedanib was initiated, after which point the patient reported a dramatic and unanticipated improvement in his epistaxis and skin telangiectasia...
June 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28610817/vascular-diseases-of-the-liver-clinical-guidelines-from-the-catalan-society-of-digestology-and-the-spanish-association-for-the-study-of-the-liver
#10
Marta Martín-Llahí, Agustín Albillos, Rafael Bañares, Annalisa Berzigotti, M Ángeles García-Criado, Joan Genescà, Virginia Hernández-Gea, Elba Llop-Herrera, Helena Masnou-Ridaura, José Mateo, Carmen A Navascués, Ángela Puente, Marta Romero-Gutiérrez, Macarena Simón-Talero, Luis Téllez, Fanny Turon, Cándido Villanueva, Roberto Zarrabeitia, Juan Carlos García-Pagán
Despite their relatively low prevalence, vascular diseases of the liver represent a significant health problem in the field of liver disease. A common characteristic shared by many such diseases is their propensity to cause portal hypertension together with increased morbidity and mortality. These diseases are often diagnosed in young patients and their delayed diagnosis and/or inappropriate treatment can greatly reduce life expectancy. This article reviews the current body of evidence concerning Budd-Chiari syndrome, non-cirrhotic portal vein thrombosis, idiopathic portal hypertension, sinusoidal obstruction syndrome, hepatic vascular malformations in hereditary haemorrhagic telangiectasia, cirrhotic portal vein thrombosis and other rarer vascular diseases including arterioportal fistulas...
October 2017: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/28530660/endoglin-prevents-vascular-malformation-by-regulating-flow-induced-cell-migration-and-specification-through-vegfr2-signalling
#11
Yi Jin, Lars Muhl, Mikhail Burmakin, Yixin Wang, Anne-Claire Duchez, Christer Betsholtz, Helen M Arthur, Lars Jakobsson
Loss-of-function (LOF) mutations in the endothelial cell (EC)-enriched gene endoglin (ENG) cause the human disease hereditary haemorrhagic telangiectasia-1, characterized by vascular malformations promoted by vascular endothelial growth factor A (VEGFA). How ENG deficiency alters EC behaviour to trigger these anomalies is not understood. Mosaic ENG deletion in the postnatal mouse rendered Eng LOF ECs insensitive to flow-mediated venous to arterial migration. Eng LOF ECs retained within arterioles acquired venous characteristics and secondary ENG-independent proliferation resulting in arteriovenous malformation (AVM)...
June 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28481989/left-atrioventricular-valve-replacement-in-a-patient-with-hereditary-haemorrhagic-telangiectasia
#12
Yasunori Iida, Naritaka Kimura, Akinori Hirano, Hideyuki Shimizu
Hereditary haemorrhagic telangiectasia, or Osler-Rendu-Weber disease, is characterized by multiple arteriovenous malformations and telangiectasia which develop in the brain, lungs or liver. We report the case of a patient who had severe left atrioventricular valve regurgitation with atrial fibrillation after atrioventricular septal defect repair in her childhood and was diagnosed as having hereditary haemorrhagic telangiectasia by chance. The patient underwent successful left atrioventricular valve replacement and maze operation...
August 1, 2017: Interactive Cardiovascular and Thoracic Surgery
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
#13
Emily J Boother, Sheila Brownlow, Hannah C Tighe, Kathleen B Bamford, James E Jackson, Claire L Shovlin
Background: Cerebral abscess is a recognized 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 computed tomography-confirmed PAVMs (including 403 [90.5%] with hereditary hemorrhagic telangiectasia) were recruited to a prospective series...
August 15, 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
#14
Paola Giordano, Mariantonietta Francavilla, Paolo Buonamico, Patrizia Suppressa, Patrizia Lastella, Maria Sangerardi, Vito L Miniello, Arnaldo Scardapane, Gennaro M Lenato, Carlo Sabbà
BACKGROUND: 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...
May 2017: VASA. Zeitschrift Für Gefässkrankheiten
https://www.readbyqxmd.com/read/28174188/cervical-spine-arteriovenous-fistula-associated-with-hereditary-haemorrhagic-telangiectasia
#15
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
#16
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
#17
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/nasal-closure-for-severe-hereditary-haemorrhagic-telangiectasia-in-100-patients-the-lund-modification-of-the-young-s-procedure-a-22-year-experience
#18
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...
June 1, 2017: Rhinology
https://www.readbyqxmd.com/read/28044006/pulmonary-microvascular-architecture-in-hereditary-haemorrhagic-telangiectasia
#19
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
#20
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
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