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hereditary haemorrhagic telangiectasia

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https://www.readbyqxmd.com/read/30191780/the-use-of-thalidomide-therapy-for-refractory-epistaxis-in-hereditary-haemorrhagic-telangiectasia-systematic-review
#1
L Harrison, A Kundra, P Jervis
BACKGROUND: Hereditary haemorrhagic telangiectasia is an autosomal dominant condition, characterised by mucocutaneous telangiectasia, aneurysm and arteriovenous malformations. Thalidomide has been used as a therapeutic strategy for refractory epistaxis in hereditary haemorrhagic telangiectasia patients. This review set out to examine the evidence for using thalidomide in the management of refractory epistaxis in hereditary haemorrhagic telangiectasia patients. METHODS: A systematic search of the available literature was performed using Medline, Embase, Cochrane Library and NHS Evidence databases, from inception to December 2017...
September 7, 2018: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/30111344/european-reference-network-for-rare-vascular-diseases-vascern-outcome-measures-for-hereditary-haemorrhagic-telangiectasia-hht
#2
Claire L Shovlin, Elisabetta Buscarini, Anette D Kjeldsen, Hans Jurgen Mager, Carlo Sabba, Freya Droege, Urban Geisthoff, Sara Ugolini, Sophie Dupuis-Girod
Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia that leads to nosebleeds, anaemia due to blood loss, and arteriovenous malformations (AVMs) in organs such as the lungs, liver and brain. HHT is estimated to affect 85,000 European citizens, but most health care providers have limited prior HHT exposure or training.Outcome Measures were developed and implemented by the HHT Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN), in order to maximise the number of patients receiving good care...
August 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/30086858/pulmonary-arteriovenous-malformations-a-radiological-and-clinical-investigation-of-136-patients-with-long-term-follow-up
#3
P E Andersen, P M Tørring, S Duvnjak, O Gerke, H Nissen, A D Kjeldsen
AIM: To assess the clinical outcome of patients with and without hereditary haemorrhagic telangiectasia (HHT) after embolisation of pulmonary arteriovenous malformations (PAVM) from a single national centre. MATERIALS AND METHODS: The present register-based observational study including all patients with PAVM treated with embolisation at a reference centre for HHT and PAVM was undertaken over a 20-year period. Demographic data, HHT genotyping, clinical presentation, and outcome were registered...
August 4, 2018: Clinical Radiology
https://www.readbyqxmd.com/read/30040069/the-impact-of-small-bowel-endoscopy-in-patients-with-hereditary-haemorrhagic-telangiectasia
#4
S Chetcuti Zammit, D S Sanders, M E Mcalindon, R Sidhu
No abstract text is available yet for this article.
July 24, 2018: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/29720405/-smad4-dpc4
#5
REVIEW
Aoife J McCarthy, Runjan Chetty
Smad4 or DPC4 belongs to a family of signal transduction proteins that are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor beta (TGF-β) signaling via several pathways. The gene acts as a tumour suppressor gene and inactivation of smad4/DPC4 is best recognised in pancreatic cancer. However, smad4/DPC4 is also mutated in other conditions and cancers such as juvenile polyposis syndrome with and without hereditary haemorrhagic telangiectasia, colorectal and prostate cancers...
August 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29593876/life-threatening-hemoptysis-case-of-osler-weber-rendu-syndrome
#6
Ricardo Alicea-Guevara, Michael Cruz Caliz, Jose Adorno, Ricardo Fernandez, Kelvin Rivera, Gustavo Gonzalez, Ricardo Alan Hernandez-Castillo, Rosangela Fernandez, Christian Castillo Latorre
Hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant vascular disorder. Patients with HHT may present with a wide spectrum of clinical manifestations, some considered to be life-threatening. We present the case of a 53-year-old male who presented with massive haemoptysis. Chest computed tomography scan was remarkable for a large anterior, left lower lobe arteriovenous malformation. The patient underwent a pulmonary angiogram with embolization of a large left lung arteriovenous malformation, which proved to be successful in controlling the bleeding...
March 2018: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29497946/reproducibility-of-right-to-left-shunt-quantification-using-transthoracic-contrast-echocardiography-in-hereditary-haemorrhagic-telangiectasia
#7
V M M Vorselaars, S Velthuis, M P Huitema, A E Hosman, C J J Westermann, R J Snijder, J J Mager, M C Post
AIM: Transthoracic contrast echocardiography (TTCE) is recommended for screening of pulmonary arteriovenous malformations (PAVMs) in hereditary haemorrhagic telangiectasia. Shunt quantification is used to find treatable PAVMs. So far, there has been no study investigating the reproducibility of this diagnostic test. Therefore, this study aimed to describe inter-observer and inter-injection variability of TTCE. METHODS: We conducted a prospective single centre study...
April 2018: Netherlands Heart Journal
https://www.readbyqxmd.com/read/29446520/lenalidomide-as-a-novel-therapy-for-gastrointestinal-angiodysplasia-in-von-willebrand-disease
#8
N V Khatri, B Patel, D R Kohli, S S Solomon, K Bull-Henry, C M Kessler
INTRODUCTION: Lenalidomide is a thalidomide analog with anti-angiogenic properties. Previous case reports suggest its efficacy in preventing gastrointestinal bleeding (GIB) secondary to angiodysplasia (AD) in hereditary haemorrhagic telangiectasia and potentially in reversing AD. We present the first case series to explore lenalidomide as a treatment for AD-related GIB in patients with von Willebrand disease (VWD). METHODS: A retrospective chart review was conducted to include patients with VWD, who were evaluated from 2010 to 2013 and who had received lenalidomide to treat recurrent GIB secondary to AD...
March 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29313587/hereditary-haemorrhagic-telangiectasia-with-severe-anemia-and-recurrent-cns-infections
#9
Nrushen Peesapati, Pbpr Naidu, S Sunitha, P V Sivaram
Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Usually presents as skin and mucosal telangiectasias, epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the epistaxis and gastrointestinal blood loss can result in anaemia, patients with hereditary haemorrhagic telangiectasia rarely presents as severe anaemia1 or CNS infections...
September 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29295777/hereditary-haemorrhagic-telangiectasia-in-pregnancy-regional-and-general-anaesthesia
#10
M Crawford, R Burns, S Cooper, T Mackay
Hereditary haemorrhagic telangiectasia, also known as Osler-Weber-Rendu disease, is a rare autosomal dominant multisystem disorder, characterised by mucocutaneous telangiectases and arteriovenous malformations affecting any organ. The physiological changes in pregnancy pose significant obstetric and anaesthetic challenges for women affected by the disease. The optimal timing and mode of delivery requires careful consideration; and the benefits and risks of both regional and general anaesthetic techniques must be carefully considered, depending on the organs affected...
February 2018: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/29196283/ringed-telangiectasias-an-unusual-presentation-of-telangiectasia-macularis-eruptiva-perstans
#11
Laila Siddique, Hadjh Ahrns, Elizabeth Seiverling
Telangiectasia macularis eruptiva perstans (TMEP) is a rare form of cutaneous mastocytosis. While most cutaneous mastocytoses occur in children and are asymptomatic, TMEP occurs predominantly in adults and is associated with systemic manifestations, requiring medical management. TMEP is typically characterised by scattered red-brown macules on the trunk and extremities, but must be differentiated from other telangiectatic conditions such as scleroderma, hereditary haemorrhagic telangiectasia and telangiectasias secondary to cirrhosis...
November 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/29166422/intranasal-bevacizumab-in-the-treatment-of-hht-related-epistaxis-a-systematic-review
#12
REVIEW
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...
March 1, 2018: Rhinology
https://www.readbyqxmd.com/read/29141890/british-thoracic-society-clinical-statement-on-pulmonary-arteriovenous-malformations
#13
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
#14
LETTER
Junko Nishikawa, Norikazu Fujii, Takeshi Kato, Toshihiro Tanaka, Noriki Fujimoto
No abstract text is available yet for this article.
December 1, 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
#15
Andreas J Askim, Alexander S Thrane, Petter Giaever, Rune Andersen, Jørgen Krohn
No abstract text is available yet for this article.
March 2018: Acta Ophthalmologica
https://www.readbyqxmd.com/read/29018941/pulmonary-arteriovenous-malformations-in-hereditary-haemorrhagic-telangiectasia-correlations-between-computed-tomography-findings-and-cerebral-complications
#16
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...
March 2018: European Radiology
https://www.readbyqxmd.com/read/28981519/pulmonary-hypertension-subtypes-associated-with-hereditary-haemorrhagic-telangiectasia-haemodynamic-profiles-and-survival-probability
#17
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
#18
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
#19
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
#20
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
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