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hereditary hemorrhagic telangiectasia

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https://www.readbyqxmd.com/read/28524787/cerebral-hemorrhage-in-monozygotic-twins-with-hereditary-hemorrhagic-telangiectasia-case-report-and-hemorrhagic-risk-evaluation
#1
Abbas Rattani, Michael C Dewan, Vickie Hannig, Robert P Naftel, John C Wellons, Lori C Jordan
The authors present a case of monozygotic twins with hereditary hemorrhagic telangiectasia (HHT) who experienced cerebral arteriovenous malformation (AVM) hemorrhage at a very young age. The clinical variables influencing HHT-related AVM rupture are discussed, and questions surrounding the timing of screening and intervention are explored. This is only the second known case of monozygotic HHT twins published in the medical literature, and the youngest pair of first-degree relatives to experience AVM-related cerebral hemorrhage...
May 19, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28521822/central-nervous-system-manganese-induced-lesions-and-clinical-consequences-in-patients-with-hereditary-hemorrhagic-telangiectasia
#2
M M Serra, C H Besada, A Cabana Cal, A Saenz, C V Stefani, D Bauso, A B Golimstok, J C Bandi, D H Giunta, C M Elizondo
BACKGROUND: Around 47-74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 sequences a hyper-intensity signal in different areas, mainly in the basal ganglia (BG) as consequence of manganese (Mn) deposits as observed in cirrhotic patients. These patients might suffer from different neuropsychiatric disorders (hepatic encephalopathy). In HHT patients, even in the presence of hepatic shunts, hepatocellular function is usually preserved...
May 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28494714/is-the-hepatic-factor-a-mirna-that-maintains-the-integrity-of-pulmonary-microvasculature-by-inhibiting-the-vascular-endothelial-growth-factor
#3
Joseph John Vettukattil
The "hepatic factor," a molecule or group of molecules present in the hepatic venous blood, essential for the prevention of the development of pulmonary arteriovenous malformations (PAVMs) and right-to-left shunting has been a conceptual enigma in the understanding of many related conditions. Patients with various forms of liver diseases including acute hepatic failure, and others with normal hepatic function like hereditary hemorrhagic telangiectasia (HHT), inflammatory and parasitic disorders, cardiogenic hepatopulmonary syndrome (cHPS) and skin disorders like Dyskeratosis congenita are all known to cause PAVMs...
May 9, 2017: Current Cardiology Reviews
https://www.readbyqxmd.com/read/28490409/endoscopic-guided-coblation-treatment-of-nasal-telangiectasias-in-hereditary-hemorrhagic-telangiectasia-how-i-do-it
#4
David M Poetker
INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disease that leads to frequent epistaxis. It can have a significant impact on quality of life. Many reports exist regarding various therapies to address the epistaxis. MATERIALS AND METHODS: We presented our technique for addressing the epistaxis associated with HHT. RESULTS: Patients are treated in the operating room while they are under general anesthesia...
May 1, 2017: American Journal of Rhinology & Allergy
https://www.readbyqxmd.com/read/28482718/pregnancy-and-mesenchimal-dysplasias-marfan-syndrome-ehlers-danlos-syndrome-hereditary-hemorrhagic-telangiectasia
#5
L S Radetskaya, A D Makatsariya, V O Bitsadze, J K Khizroeva
No abstract text is available yet for this article.
May 9, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28461180/giant-symptomatic-aneurysm-secondary-to-hereditary-hemorrhagic-telangiectasia-of-a-main-hepatic-artery-with-aberrant-origin-in-superior-mesenteric-artery
#6
Francisco Javier Peinado Cebria N, Santiago Este Banez Seco, A Ngel Flores-Herrero, Ricardo Montoya Ching, Benito Mendez Feria, Diego Soto Valdés, Maria Pilar Lamarca Mendoza, Antonio Orgaz Pe Rez-Grueso
INTRODUCTION: Hereditary Hemorragic Telangiectasia (HHT) is a rare disease consistent in vascular dysplasias affecting different organs. Liver involvement includes telangiectases, arteriovenous shunting, and ischemic cholangitis, and its prevalence ranges from 8 to 31%. Spontaneous pseudo aneurysms have never been reported associated to HHT. Several variations in the origin of the main hepatic artery (MHA) have been described in large radiological series, and can be found in around 4% of general population...
April 28, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28430541/a-comprehensive-approach-to-hepatic-vascular-disease
#7
Khaled M Elsayes, Akram M Shaaban, Sarah M Rothan, Sanaz Javadi, Beatrice L Madrazo, Rosa P Castillo, Victor J Casillas, Christine O Menias
The liver has a complex vascular supply, which involves the inflow of oxygenated blood through the hepatic artery (systemic circulation) and deoxygenated blood through the portal vein (portal circulation), as well as the outflow of deoxygenated blood through the hepatic veins to the inferior vena cava. A spectrum of vascular variants can involve the liver. Some of these variants may result in areas of enhancement that can mimic more serious pathologic conditions. In this article, the authors discuss a spectrum of variants and pathologic conditions that may involve the liver vasculature...
May 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28427830/liver-transplantation-for-hereditary-hemorrhagic-telangiectasia-a-systematic-review
#8
REVIEW
Emanuele Felli, Pietro Addeo, François Faitot, Gennaro Nappo, Constantin Oncioiu, Philippe Bachellier
AIM: To evaluate the indications, timing and results of liver transplantation in patients affected by hereditary hemorrhagic telangiectasia (HHT), by undertaking a systematic review of the current literature. METHODS: Electronic bibliographical databases were searched on MEDLINE and Pubmed according to the PRISMA criteria. A total of 58 articles were initially found, 11 have been excluded because of single center series later included in the European Liver transplant Registry (ELTR), already reported in this study...
April 17, 2017: HPB: the Official Journal of the International Hepato Pancreato Biliary Association
https://www.readbyqxmd.com/read/28420371/effect-of-pulmonary-arteriovenous-malformations-on-the-mechanical-properties-of-the-lungs
#9
Cécile Rotenberg, Marcel Bonay, Mostafa El Hajjam, Sandra Blivet, Alain Beauchet, Pascal Lacombe, Thierry Chinet
BACKGROUND: Pulmonary arteriovenous malformations (PAVMs) are present in approximately 15-50% individuals with hereditary hemorrhagic telangiectasia (HHT). They may be isolated but more often are multiple. The goal of this study was to evaluate the influence of PAVMs on lung mechanical properties. METHODS: We reviewed the files of all adult patients (age ≥ 18 years) referred to our Center for evaluation of HHT between 2005 and 2013. The diagnosis of HHT was based on the Curacao criteria and/or the presence of a pathogenic mutation...
April 19, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28418273/thalidomide-for-epistaxis-in-patients-with-hereditary-hemorrhagic-telangiectasia-a-preliminary-study
#10
Jia Fang, Xiaomeng Chen, Bijun Zhu, Haibo Ye, Weitian Zhang, Jian Guan, Kaiming Su
To evaluate the effectiveness of thalidomide for epistaxis in hereditary hemorrhagic telangiectasia (HHT), 7 HHT patients with recurrent epistaxis were treated with thalidomide at an initial dose of 50 mg/d, gradually increasing to 100 mg/d if needed. The Epistaxis Severity Score (ESS) was used to evaluate the treatment effects. Patients reported that epistaxis improved 1 to 3 weeks after starting thalidomide. The mean ESS before treatment, at the end of treatment, and 3 months after stopping treatment was 5...
April 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28411778/lack-of-efficacy-of-topical-timolol-for-cutaneous-telangiectasias-in-patients-with-hereditary-hemorrhagic-telangiectasia-results-of-a-pilot-study
#11
Hana Jeon, Bernard Cohen
No abstract text is available yet for this article.
May 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28407366/screening-children-for-pulmonary-arteriovenous-malformations-evaluation-of-18-years-of-experience
#12
Anna E Hosman, Els M de Gussem, Walter A F Balemans, Andréanne Gauthier, Cees J J Westermann, Repke J Snijder, Marco C Post, Johannes J Mager
BACKGROUND: Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disease with multi-systemic vascular dysplasia. Early diagnosis through screening is important to prevent serious complications. How best to screen children of affected parents for pulmonary arteriovenous malformations (PAVMs) is often subject to debate. Transthoracic contrast echocardiogram (TTCE) is considered optimal in screening for PAVMs in adults. Guidelines for the screening of children are not specific, reflecting the lack of scientific evidence on the best method to use...
April 13, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28394685/a-case-report-of-hereditary-hemorrhagic-telangiectasia-diagnosed-in-a-podiatric-medical-patient
#13
Kunal Amin, Douglas Mckay
Hereditary hemorrhagic telangiectasia (HHT), which is also known as Osler-Weber-Rendu syndrome, is a group of related disorders characterized by the development of arteriovenous malformations. These malformations occur in almost all organs but predominantly in the skin, intestines, liver, lungs, and brain. This is a case report of a patient with cutaneous manifestations of HHT in the lower extremities as diagnosed by his podiatric physician. To our knowledge, the literature does not present any case reports in which cutaneous manifestations of the lower extremities followed by a further work-up allowed a diagnosis of HHT...
March 2017: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/28387092/-hereditary-hemorrhagic-telangiectasia-and-pulmonary-arteriovenous-malformations-in-children
#14
M Thimmesch, K El Abd, D Brisbois, J Khamis, M Lewin, P Philippet
Hereditary hemorrhagic telangiectasia is a constitutional vascular dysplasia characterized by chronic epistaxis, mucocutaneous and visceral telangiectasias and arteriovenous malformations. Apart from family screenings, the disease is rarely diagnosed during the pediatric age given the late advent of typical clinical symptoms. Nevertheless, arteriovenous malformations are sometimes already present at a young age with significant morbidity risk. Therefore, it is important to establish an early diagnosis. We describe two pediatric cases of hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations with divergent clinical presentation...
December 2016: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28375020/pulmonary-hypertension-prevalence-and-prognosis-in-a-cohort-of-patients-with-hereditary-hemorrhagic-telangiectasia-undergoing-embolization-of-pavms
#15
Mwelwa Chizinga, Anastasiia A Rudkovskaia, Katharine Henderson, Jeffrey Pollak, Guadalupe Garcia-Tsao, Lawrence H Young, Wassim H Fares
No abstract text is available yet for this article.
April 4, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/28360478/hereditary-hemorrhagic-telangiectasia-with-hemothorax-in-pregnancy
#16
Sagar Raiya, Amita Athavale, Jairaj Nair, Hemant Deshmukh
No abstract text is available yet for this article.
March 2017: Lung India: Official Organ of Indian Chest Society
https://www.readbyqxmd.com/read/28348038/bone-morphogenetic-proteins-in-vascular-homeostasis-and-disease
#17
Marie-José Goumans, An Zwijsen, Peter Ten Dijke, Sabine Bailly
It is well established that control of vascular morphogenesis and homeostasis is regulated by vascular endothelial growth factor (VEGF), fibroblast growth factor (FGF), Delta-like 4 (Dll4), angiopoietin, and ephrin signaling. It has become clear that signaling by bone morphogenetic proteins (BMPs), which have a long history of studies in bone and early heart development, are also essential for regulating vascular function. Indeed, mutations that cause deregulated BMP signaling are linked to two human vascular diseases, hereditary hemorrhagic telangiectasia and pulmonary arterial hypertension...
March 27, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28348036/tgf-%C3%AE-signaling-in-control-of-cardiovascular-function
#18
Marie-José Goumans, Peter Ten Dijke
Genetic studies in animals and humans indicate that gene mutations that functionally perturb transforming growth factor β (TGF-β) signaling are linked to specific hereditary vascular syndromes, including Osler-Rendu-Weber disease or hereditary hemorrhagic telangiectasia and Marfan syndrome. Disturbed TGF-β signaling can also cause nonhereditary disorders like atherosclerosis and cardiac fibrosis. Accordingly, cell culture studies using endothelial cells or smooth muscle cells (SMCs), cultured alone or together in two- or three-dimensional cell culture assays, on plastic or embedded in matrix, have shown that TGF-β has a pivotal effect on endothelial and SMC proliferation, differentiation, migration, tube formation, and sprouting...
March 27, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28339142/selective-effects-of-oral-antiangiogenic-tyrosine-kinase-inhibitors-on-an-animal-model-of-hereditary-hemorrhagic-telangiectasia
#19
Y H Kim, M-J Kim, S-W Choe, D Sprecher, Y J Lee, S P Oh
Essentials Antiangiogenic drugs are indicated as therapies for hereditary hemorrhagic telangiectasia. We interrogated the response to four antiangiogenic drugs for anemia and intestinal bleeding. Sorafenib and a pazopanib analog significantly improved while erlotinib worsened anemia. Some oral antiangiogenic drugs were effective in reducing intestinal bleeding. SUMMARY: Background Epistaxis and gastrointestinal (GI) tract hemorrhages are common symptoms of aged hereditary hemorrhagic telangiectasia (HHT) patients that result in anemia...
March 24, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28314138/depression-and-post-traumatic-stress-disorder-in-individuals-with-hereditary-hemorrhagic-telangiectasia-a-cross-sectional-survey
#20
Shruti Chaturvedi, Marianne Clancy, Nicole Schaefer, Olalekan Oluwole, Keith R McCrae
INTRODUCTION: Hereditary hemorrhagic telangiectasia (HHT) is characterized by frequent severe bleeding, particularly epistaxis, and life-threatening complications including stroke, brain abscess and heart failure. The psychological impact of HHT is not known. We conducted this cross sectional study to determine the prevalence of depression and post-traumatic stress disorder (PTSD) related to HHT. METHODS: A survey tool comprising demographic and clinical information and two validated self-administered questionnaires, the PTSD checklist for DSM-5 (PCL-5) and Beck Depression Inventory-II (BDI-II), was distributed to individuals with HHT...
May 2017: Thrombosis Research
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