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hereditary hemorrhagic telangiectasia

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https://www.readbyqxmd.com/read/29048420/characterization-of-pulmonary-arteriovenous-malformations-in-acvrl1-versus-eng-mutation-carriers-in-hereditary-hemorrhagic-telangiectasia
#1
Weiyi Mu, Zachary A Cordner, Kevin Yuqi Wang, Kate Reed, Gina Robinson, Sally Mitchell, Doris Lin
PurposePulmonary arteriovenous malformations (pAVMs) are major contributors to morbidity and mortality in hereditary hemorrhagic telangiectasia (HHT). Mutations in ENG and ACVRL1 underlie the vast majority of clinically diagnosed cases. The aims of this study were to characterize and compare the clinical and morphologic features of pAVMs between these two genotype groups.MethodsSixty-six patients with HHT and affected family members were included. Genotype, phenotypic data, and imaging were obtained from medical records...
October 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29021642/bevacizumab-as-a-treatment-for-hereditary-hemorrhagic-telangiectasia-in-children-a-case-report
#2
Fabio E Ospina, Alex Echeverri, Iván Posso-Osorio, Lina Jaimes, Jaiber Gutierrez, Gabriel J Tobón
CASE DESCRIPTION: Five-year-old female patient with hereditary hemorrhagic telangiectasia. CLINICAL FINDINGS: Deterioration of cardiopulmonary function with higher oxygen requirements secondary to pulmonary arteriovenous shunts, epistaxis. TREATMENT AND OUTCOME: The patient was treated with the monoclonal antibody bevacizumab, which inhibits the vascular endothelial growth factor, with good clinical outcome. CLINICAL RELEVANCE: Hereditary hemorrhagic telangiectasia is an autosomal dominant disorder characterized by arteriovenous malformations in different organs, making its clinical presentations varied...
June 30, 2017: Colombia Médica: CM
https://www.readbyqxmd.com/read/28989145/-clinical-and-genetic-diagnosis-in-a-hereditary-hemorrhagic-telangiectasia-family
#3
Yan Yi, Xiaofeng Liu, Boda Wu, Jun Liu, Shenglei Ge, Xiaoliu Shi
To investigate the clinical features and feasibility genetic diagnosis in a hereditary hemorrhagic telangiectasia (HHT) family, and to explore the application of gene mutation testing in HHT diagnosis.
 Methods: Medical histories and clinical features of a family were analyzed to diagnose HHT patients and suspected individuals according to the clinical diagnostic criteria. Sequence analysis of endoglin (ENG) and activin A receptor like type 1 (ACVRL1) gene in the proband was performed with PCR and Sanger sequencing technology...
September 28, 2017: Zhong Nan da Xue Xue Bao. Yi Xue Ban, Journal of Central South University. Medical Sciences
https://www.readbyqxmd.com/read/28978360/topical-propranolol-improves-epistaxis-in-patients-with-hereditary-hemorrhagic-telangiectasia-a-preliminary-report
#4
Meir Mei-Zahav, Hannah Blau, Elchanan Bruckheimer, Eyal Zur, Neta Goldschmidt
BACKGROUND: Severe epistaxis is often difficult to control in patients with hereditary hemorrhagic telangiectasia (HHT). Propranolol has been shown to have antiangiogenic properties in vitro and in vivo and is commonly used to treat hemangiomas. We present our experience with topical nasal propranolol for the treatment of moderate to severe epistaxis in patients with HHT. METHODS: Retrospective case series. Six patients with HHT were treated with 0.5 cm(3) of 1...
October 4, 2017: Journal of Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28973643/tacrolimus-rescues-the-signaling-and-gene-expression-signature-of-endothelial-alk1-loss-of-function-and-improves-hht-vascular-pathology
#5
Santiago Ruiz, Pallavi Chandakkar, Haitian Zhao, Julien Papoin, Prodyot K Chatterjee, Erica Christen, Christine N Metz, Lionel Blanc, Fabien Campagne, Philippe Marambaud
Hereditary hemorrhagic telangiectasia (HHT) is a highly debilitating and life-threatening genetic vascular disorder arising from endothelial cell (EC) proliferation and hypervascularization, for which no cure exists. Because HHT is caused by loss-of-function mutations in BMP9-ALK1-Smad1/5/8 signaling, interventions aimed at activating this pathway are of therapeutic value. We interrogated the whole-transcriptome in human umbilical vein ECs (HUVECs) and found that ALK1 signaling inhibition was associated with a specific pro-angiogenic gene expression signature, which included a significant elevation of DLL4 expression...
September 14, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28973426/surgical-treatment-vs-nonsurgical-treatment-for-brain-arteriovenous-malformations-in-patients-with-hereditary-hemorrhagic-telangiectasia-a-retrospective-multicenter-consortium-study
#6
Ali Tayebi Meybodi, Helen Kim, Jeffrey Nelson, Steven W Hetts, Timo Krings, Karel G terBrugge, Marie E Faughnan, Michael T Lawton
BACKGROUND: Cerebral arteriovenous malformations (AVMs) are common in patients with hereditary hemorrhagic telangiectasia (HHT). However, due to the rarity of HHT and little published evidence of outcomes from management of brain AVMs in this disease, current international HHT guidelines recommend an individualized approach. Specifically, the outcomes for surgical vs nonsurgical management of these lesions have not been reported to date. OBJECTIVE: To report long-term outcomes of surgical resection of brain AVMs in HHT patients compared to outcomes in nonsurgically treated patients...
July 4, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28972795/embolization-for-the-treatment-of-intractable-epistaxis-12-month-outcomes-in-a-two-centre-case-series
#7
Anthony E Robinson, William McAuliffe, Timothy J Phillips, Constantine C Phatouros, Tejinder P Singh
OBJECTIVE: Embolization is a treatment option for intractable epistaxis, however concerns regarding tissue necrosis, stroke and blindness persist in the literature. METHODS: A retrospective review of patients from September 2010 - January 2016 treated with embolization for epistaxis was performed. No patient was excluded. Followup was 12 months and no patient was lost. RESULTS: 62 embolizations on 59 patients occurred. 21 cases were taking anticoagulants, P2Y12 inhibiting agents or had a systemic coagulopathy...
October 3, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28967497/pulmonary-artery-hypertension-in-childhood-the-transforming-growth-factor-%C3%AE-superfamily-related-genes
#8
REVIEW
Shi-Min Yuan
Pulmonary artery hypertension (PAH) is very rare in childhood, and it can be divided into heritable, idiopathic drug- and toxin-induced and other disease (connective tissue disease, human immunodeficiency virus infection, portal hypertension, congenital heart disease, or schistosomiasis)-associated types. PAH could not be interpreted solely by pathophysiological theories. The impact of the transforming growth factor-β superfamily-related genes on the development of PAH in children remains to be clarified. Pertinent literature on the transforming growth factor-β superfamily-related genes in relation to PAH in children published after the year 2000 was reviewed and analyzed...
August 12, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28963191/deregulated-tgf-%C3%AE-bmp-signaling-in-vascular-malformations
#9
REVIEW
Sara I Cunha, Peetra U Magnusson, Elisabetta Dejana, Maria Grazia Lampugnani
Correct organization of the vascular tree requires the balanced activities of several signaling pathways that regulate tubulogenesis and vascular branching, elongation, and pruning. When this balance is lost, the vessels can be malformed and fragile, and they can lose arteriovenous differentiation. In this review, we concentrate on the transforming growth factor (TGF)-β/bone morphogenetic protein (BMP) pathway, which is one of the most important and complex signaling systems in vascular development. Inactivation of these pathways can lead to altered vascular organization in the embryo...
September 29, 2017: Circulation Research
https://www.readbyqxmd.com/read/28955114/angioarchitecture-of-hereditary-arteriovenous-malformations
#10
REVIEW
Patricia E Burrows
This article describes three hereditary conditions known to be associated with arteriovenous malformation (AVM), along with their clinical and imaging features and angiographic angioarchitecture. Hereditary hemorrhagic telangiectasia, capillary malformation-AVM (CM-AVM), and PTEN tumor hamartoma syndrome are conditions with autosomal dominant inheritance, caused by mutations in different molecular pathways, which frequently present with symptomatic AVMs. Imaging biomarkers, including sites of predilection, angioarchitecture, and tissue overgrowth patterns, are helpful in identifying these patients and selecting appropriate treatment...
September 2017: Seminars in Interventional Radiology
https://www.readbyqxmd.com/read/28936439/a-case-of-pulmonary-arteriovenous-malformation-role-of-interventional-radiology-in-diagnosis-and-treatment
#11
Pranav Sharma, Puneet Kochar, Salil Sharma, Nishant Gupta, Shuo Li, Kusum Hooda, Yogesh Kumar
Pulmonary arterio-venous malformations (PAVMs) are abnormal pulmonary arteries and pulmonary veins communicating directly without interposition of a capillary bed and about 80-90% of patients with PAVMs eventually may present with hereditary hemorrhagic telangiectasia (HHT), remaining ones are sporadic cases. On the other hand, about 15-35% of HHT patients may present with PAVMs. The PAVMs have a tendency to grow and increase in size over time and various factors like puberty, pregnancy and pulmonary arterial hypertension (PAH) affect growth...
September 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28931195/hereditary-hemorrhagic-telangiectasia-laser-treatment-of-epistaxis
#12
Gorazd Poje, Marcel Marjanović Kavanagh
Hereditary hemorrhagic telangiectasia (HHT) is a rare, autosomal dominant disorder characterized by recurrent epistaxis, telangiectasias, and multiorgan vascular dysplasia. Various modalities exist for the treatment of HHT-related chronic epistaxis, although no method is preferred over another. The aim of this study was to review the effectiveness of diode laser photocoagulation in the treatment of epistaxis in patients with HHT. The study included 17 patients (7 men, 10 women) treated with diode laser photocoagulation from year 2008 to 2012...
September 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28927739/antithrombotic-use-predicts-recanalization-of-embolized-pulmonary%C3%A2-arteriovenous-malformations-in-hereditary-hemorrhagic%C3%A2-telangiectasia
#13
Jason L Martin, Marie E Faughnan, Vikramaditya Prabhudesai
No abstract text is available yet for this article.
September 15, 2017: Canadian Association of Radiologists Journal, Journal L'Association Canadienne des Radiologistes
https://www.readbyqxmd.com/read/28905045/left-atrial-appendage-occlusion-in-a-patient-with-hereditary-hemorrhagic-telangiectasia-and-atrial-fibrillation-a-therapeutic-option-worth-considering
#14
Maksymilian Mielczarek, Rafał Gałąska, Piotr Drewla, Dorota Kulawiak-Gałąska, Dariusz Ciećwierz, Marcin Gruchała
No abstract text is available yet for this article.
2017: Arch Med Sci Atheroscler Dis
https://www.readbyqxmd.com/read/28902645/-a-rare-cause-of-cyanosis-in-childhood-pulmonary-arteriovenous-malformation
#15
Osman Güvenç, Murat Saygı, İbrahim Halil Demir, Ender Ödemiş
Pulmonary arteriovenous malformation, which is defined as the presence of an ab-normal connection between the pulmonary artery and pulmonary vein, is rarely seen. Although it generally presents as a congenital condition, it may be accompanied by hereditary hemorrhagic telangiectasia. Clinical signs vary according to the amount of shunt in proportion to the number and size of the fistulae. Patients may present with cyanosis and respiratory trouble. If the disease remains untreated, it may result in cardiac failure and ineffective endocarditis, thereby leading to the rupture of the an-eurysmal fistula...
September 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28874286/smad4-gene-mutation-and-risk-of-aortic-dilation-lessons-from-hereditary-hemorrhagic-telangiectasia
#16
EDITORIAL
Giulio Cavalli
No abstract text is available yet for this article.
October 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28871312/alk1-signaling-in-development-and-disease-new-paradigms
#17
REVIEW
Beth L Roman, Andrew P Hinck
Activin A receptor like type 1 (ALK1) is a transmembrane serine/threonine receptor kinase in the transforming growth factor-beta receptor family that is expressed on endothelial cells. Defects in ALK1 signaling cause the autosomal dominant vascular disorder, hereditary hemorrhagic telangiectasia (HHT), which is characterized by development of direct connections between arteries and veins, or arteriovenous malformations (AVMs). Although previous studies have implicated ALK1 in various aspects of sprouting angiogenesis, including tip/stalk cell selection, migration, and proliferation, recent work suggests an intriguing role for ALK1 in transducing a flow-based signal that governs directed endothelial cell migration within patent, perfused vessels...
September 4, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28869051/emergency-consultation-for-epistaxis-a-bad-predictor-for-overall-health
#18
Rafael R Stadler, Rahel M Kindler, Basile N Landis, Nicolas I Vogel, David Holzmann, Michael B Soyka
OBJECTIVE: To compare the mortality rate of a large epistaxis cohort with the fatalities of the general Swiss population and to evaluate significant risk factors for impending early death. METHODS: 568 patients out of an epistaxis cohort from a former study were contacted by mail to answer a questionnaire. Deceased patients were identified from March, 2007 through April, 2014. Death rates were compared to the general Swiss population. Different potential risk factors were evaluated by multivariate analysis...
August 28, 2017: Auris, Nasus, Larynx
https://www.readbyqxmd.com/read/28836046/gastrointestinal-manifestations-of-hereditary-hemorrhagic-telangiectasia-hht-a-systematic-review-of-the-literature
#19
REVIEW
Samuel B Jackson, Nicholas P Villano, Jihane N Benhammou, Michael Lewis, Joseph R Pisegna, David Padua
Hereditary hemorrhagic telangiectasia (HHT), also called Osler-Weber-Rendu syndrome, is an autosomal dominant genetic disease that affects the vasculature of numerous organs. The prevalence of HHT is estimated to be between 1.5 and 2 persons per 10,000. While there is still much to learn about this condition, there is an increasing understanding its underlying pathophysiology, genetic basis, presentations, and management. Recognizing that the clinical manifestations of HHT can involve a number of organ systems will provide clinicians with a higher index of suspicion for the disease...
October 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28810087/multiple-pulmonary-arteriovenous-malformations-an-unusual-cause-of-shortness-of-breath-and-recurrent-strokes
#20
Kalyan C Potu, Shenjing Li, Shawn C Kelly, Julia A Prescott-Focht, Scott Pham
OBJECTIVE: To discuss an uncommon case of a patient with multiple pulmonary arteriovenous malformations (PAVMs) presenting with dyspnea on exertion and recurrent strokes. BACKGROUND: A 79-year-old woman with recent onset recurrent cerebrovascular accidents (CVAs) was referred to cardiology for evaluation of dyspnea on exertion. Clinical examination was unrevealing. METHODS: A transthoracic echocardiogram (TTE) with agitated saline was suggestive of an extra-cardiac shunt...
February 2017: South Dakota Medicine: the Journal of the South Dakota State Medical Association
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