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hereditary hemorrhagic telangiectasia

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https://www.readbyqxmd.com/read/29217066/hereditary-hemorrhagic-telangiectasia
#1
REVIEW
Thomas Kühnel, Kornelia Wirsching, Walter Wohlgemuth, Ajay Chavan, Katja Evert, Veronika Vielsmeier
Hereditary hemorrhagic telangiectasia (HHT) describes the presenting manifestations of a disorder that is characterized by pathologic blood vessels. HHT is inherited as an autosomal dominant trait with variable penetrance. The abnormal vascular structures (dysplasias) can affect all the organs in the human body. The link between a physical stimulus and new lesion development has been established for mucosal trauma owing to nasal airflow turbulence, for ultraviolet exposure to the fingers, and for mechanical trauma to the dominant hand...
February 2018: Otolaryngologic Clinics of North America
https://www.readbyqxmd.com/read/29210083/a-novel-association-between-high-red-blood-cell-alloimmunization-rates-and-hereditary-hemorrhagic-telangiectasia
#2
Yan Zheng, Jeffrey Pollak, Katharine Henderson, Jeanne E Hendrickson, Christopher A Tormey
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder associated with multiple arteriovenous malformations. HHT patients may require red blood cell (RBC) transfusion due to spontaneous hemorrhage or surgical bleeding. Because HHT-associated hemorrhage often occurs in submucosa we hypothesized that RBC alloimmunization rates in HHT patients may be higher than those observed in other transfused patients and investigated this in a retrospective study. STUDY DESIGN AND METHODS: Eighty-five patients with HHT who were transfused at our tertiary care facility were identified...
December 6, 2017: Transfusion
https://www.readbyqxmd.com/read/29190827/intra-venous-bevacizumab-in-hereditary-hemorrhagic-telangiectasia-hht-a-retrospective-study-of-46-patients
#3
Alexandre Guilhem, Anne-Emmanuelle Fargeton, Anne-Claire Simon, Pierre Duffau, Jean-Robert Harle, Christian Lavigne, Marie-France Carette, Olivier Bletry, Pierre Kaminsky, Vanessa Leguy, Nathalie Lerolle, Dominique Roux, Marc Lambert, Thierry Chinet, Delphine Bonnet, Sophie Dupuis-Girod, Sophie Rivière
BACKGROUND: Bevacizumab, an anti-VEGF monoclonal antibody, has recently emerged as a new option for severe forms of hereditary hemorrhagic telangiectasia (HHT). Its utilization in this orphan disease has rapidly spread despite the lack of randomized trials and international guidelines. The objective of this study is to report the main clinical data (baseline characteristics, dose schedule, efficacy, adverse events and deaths) of HHT patients treated by intravenous bevacizumab in France...
2017: PloS One
https://www.readbyqxmd.com/read/29171658/epistaxis-in-children-and-adolescents-with-hereditary-hemorrhagic-telangiectasia
#4
Cristian D Gonzalez, Jamie Mcdonald, David A Stevenson, Kevin J Whitehead, Matthew G Petersen, Angela P Presson, Qian Ding, Kevin F Wilson
OBJECTIVES/HYPOTHESIS: Our objective was to describe epistaxis onset and severity in pediatric hereditary hemorrhagic telangiectasia (HHT) patients and study the cumulative incidence of epistaxis by age of onset within each genetic subtype. STUDY DESIGN: Retrospective cohort chart review. METHODS: Charts were reviewed of patients age 0 to 18 years with a clinical or genetic diagnosis of HHT who were evaluated at a tertiary multidisciplinary HHT clinic from January 2010 to June 2016...
November 24, 2017: Laryngoscope
https://www.readbyqxmd.com/read/29171631/-liver-transplant-as-treatment-for-cardiac-failure-secondary-to-hereditary-hemorrhagic-telangiectasia-report-of-one-case
#5
Vanessa Ahumada, Rodrigo Tejos, Felipe Moraga, Pablo Achurra, Iván Godoy, Soledad Loyola, Javiera Torres, Marianne Kolbach, Carlos Benítez, Juan Francisco Guerra, Nicolás Jarufe, Jorge Martínez
No abstract text is available yet for this article.
June 2017: Revista Médica de Chile
https://www.readbyqxmd.com/read/29158938/orthodeoxia-without-platypnea-in-hereditary-hemorrhagic-telangiectasia-in-the-presence-of-a-cerebral-abscess-and-multiple-pulmonary-arteriovenous-malformations-unusual-complications-and-transcatheter-endovascular-treatment
#6
Carlos Salazar, Jacky Bruce Blank, Veronica Palmero
Hereditary hemorrhagic telangiectasia is a rare autosomal-dominant condition affecting visceral blood vessel development. Cerebral and most commonly pulmonary arteriovenous malformations are found in the majority of symptomatic patients. The most common complications include embolic strokes and cerebral abscesses, which have been attributed to abnormal vessel communications. Platypnea orthodeoxia is a rare condition that presents dyspnea and oxygen desaturation when adopting an upright position and is relieved on decubitus...
2017: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/29147802/executive-summary-of-the-12th-hht-international-scientific-conference
#7
Jillian W Andrejecsk, Anna E Hosman, Luisa M Botella, Claire L Shovlin, Helen M Arthur, Sophie Dupuis-Girod, Elisabetta Buscarini, Christopher C W Hughes, Franck Lebrin, Christine L Mummery, Marco C Post, Johannes J Mager
Hereditary hemorrhagic telangiectasia is an autosomal dominant trait affecting approximately 1 in 5000 people. A pathogenic DNA sequence variant in the ENG, ACVRL1 or SMAD4 genes, can be found in the majority of patients. The 12th International Scientific HHT Conference was held on June 8-11, 2017 in Dubrovnik, Croatia to present and discuss the latest scientific achievements, and was attended by over 200 scientific and clinical researchers. In total 174 abstracts were accepted of which 58 were selected for oral presentations...
November 16, 2017: Angiogenesis
https://www.readbyqxmd.com/read/29140123/classifying-pulmonary-hypertension-in-hereditary-hemorrhagic-telangiectasia-hemodynamics-matter
#8
Beth L Roman, Michael J Cuttica
No abstract text is available yet for this article.
November 15, 2017: American Journal of Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29133188/coronary-angiography-and-interventions-in-patients-with-hereditary-hemorrhagic-telangiectasia
#9
Andreas S Triantafyllis, Andreas S Kalogeropoulos, Keir McCutcheon, Walter Desmet, Johan Bennett
No abstract text is available yet for this article.
November 10, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29120072/rasa1-mutation-in-a-family-with-capillary-malformation-arteriovenous-malformation-syndrome-a-discussion-of-the-differential-diagnosis
#10
Lisa R Edwards, Adam B Blechman, Barrett J Zlotoff
We describe a family who presented with several scattered, vascular, cutaneous lesions and was found to have a novel mutation in RASA1, diagnostic of capillary malformation-arteriovenous malformation syndrome. Our patient was initially given a presumptive clinical diagnosis of hereditary hemorrhagic telangiectasia. Capillary malformation-arteriovenous malformation syndrome shares several features with hereditary hemorrhagic telangiectasia and hereditary benign telangiectasia, but it can be distinguished clinically according to its morphologic appearance and distribution of cutaneous vascular lesions, the presence of internal fast-flow lesions, and genetic analysis...
November 9, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/29098173/the-roles-of-endoglin-gene-in-cerebrovascular-diseases
#11
Wan Zhu, Li Ma, Rui Zhang, Hua Su
Endoglin (ENG, also known as CD105) is a transforming growth factor β (TGFβ) associated receptor and is required for both vasculogenesis and angiogenesis. Angiogenesis is important in the development of cerebral vasculature and in the pathogenesis of cerebral vascular diseases. ENG is an essential component of the endothelial nitric oxide synthase activation complex. Animal studies showed that ENG deficiency impairs stroke recovery. ENG deficiency also impairs the regulation of vascular tone, which contributes to the pathogenesis of brain arteriovenous malformation (bAVM) and vasospasm...
2017: Neuroimmunology and Neuroinflammation
https://www.readbyqxmd.com/read/29080903/human-endoglin-as-a-potential-new-partner-involved-in-platelet-endothelium-interactions
#12
Elisa Rossi, Miguel Pericacho, Christilla Bachelot-Loza, Dominique Pidard, Pascale Gaussem, Sonia Poirault-Chassac, Francisco J Blanco, Carmen Langa, Consuelo González-Manchón, Jose M Lopez Novoa, David M Smadja, Carmelo Bernabeu
Complex interactions between platelets and activated endothelium occur during the thrombo-inflammatory reaction at sites of vascular injuries and during vascular hemostasis. The endothelial receptor endoglin is involved in inflammation through integrin-mediated leukocyte adhesion and transmigration; and heterozygous mutations in the endoglin gene cause hereditary hemorrhagic telangiectasia type 1. This vascular disease is characterized by a bleeding tendency that is postulated to be a consequence of telangiectasia fragility rather than a platelet defect, since platelets display normal functions in vitro in this condition...
October 28, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29048420/characterization-of-pulmonary-arteriovenous-malformations-in-acvrl1-versus-eng-mutation-carriers-in-hereditary-hemorrhagic-telangiectasia
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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 to January 2016 treated with embolization for epistaxis was performed. No patient was excluded. Follow-up 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 26, 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
#20
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
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