keyword
MENU ▼
Read by QxMD icon Read
search

hereditary hemorrhagic telangiectasia

keyword
https://www.readbyqxmd.com/read/29451965/pazopanib-effective-for-bevacizumab-unresponsive-epistaxis-in-hereditary-hemorrhagic-telangiectasia
#1
Joseph G Parambil, Troy D Woodard, Omer N Koc
Hereditary hemorrhagic telangiectasia (HHT) most commonly manifests with nasal mucosal telangiectasias, and vascular endothelial growth factor (VEGF) plays a significant role in this angiodysplasia. We describe a patient with HHT with epistaxis recalcitrant to several endonasal procedures and six cycles of intravenous bevacizumab, for which he was dependent on iron infusions and packed red blood cells transfusions. He then started pazopanib at 100 mg with dramatic improvements in epistaxis and normalization of hemoglobin and iron levels, without replenishment needs for 12 months...
February 16, 2018: Laryngoscope
https://www.readbyqxmd.com/read/29449337/alk1-activin-receptor-like-kinase-1-loss-results-in-vascular-hyperplasia-in-mice-and-humans-through-pi3k-phosphatidylinositol-3-kinase-activation
#2
Elisenda Alsina-Sanchís, Yaiza García-Ibáñez, Ana M Figueiredo, Carla Riera-Domingo, Agnès Figueras, Xavier Matias-Guiu, Oriol Casanovas, Luisa M Botella, Miquel A Pujana, Antoni Riera-Mestre, Mariona Graupera, Francesc Viñals
OBJECTIVE: ALK1 (activin-receptor like kinase 1) is an endothelial cell-restricted receptor with high affinity for BMP (bone morphogenetic protein) 9 TGF-β (transforming growth factor-β) family member. Loss-of-function mutations in ALK1 cause a subtype of hereditary hemorrhagic telangiectasia-a rare disease characterized by vasculature malformations. Therapeutic strategies are aimed at reducing potential complications because of vascular malformations, but currently, there is no curative treatment for hereditary hemorrhagic telangiectasia...
February 15, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29438260/endothelial-cell-biology-of-endoglin-in-hereditary-hemorrhagic-telangiectasia
#3
Wade W Sugden, Arndt F Siekmann
PURPOSE OF REVIEW: Mutations in the Endoglin (Eng) gene, an auxiliary receptor in the transforming growth factor beta (TGFβ)-superfamily signaling pathway, are responsible for the human vascular disorder hereditary hemorrhagic telangiectasia (HHT) type 1, characterized in part by blood vessel enlargement. A growing body of work has uncovered an autonomous role for Eng in endothelial cells. We will highlight the influence of Eng on distinct cellular behaviors, such as migration and shape control, which are ultimately important for the assignment of proper blood vessel diameters...
February 12, 2018: Current Opinion in Hematology
https://www.readbyqxmd.com/read/29398197/clinical-presentation-and-treatment-paradigms-in-patients-with-hereditary-hemorrhagic-telangiectasia-and-spinal-vascular-malformations
#4
Ilyas Eli, Nicholas T Gamboa, Evan J Joyce, Min S Park, Philipp Taussky, Richard H Schmidt, William T Couldwell, Jamie McDonald, Kevin J Whitehead, M Yashar S Kalani
Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder that causes angiodysplasia and results in mucocutaneous telangiectasias and arteriovenous malformations of organs. Although central nervous system vascular malformations can occur anywhere along the neuraxis, spinal vascular malformations are rare. We present our experience with the presentation and management of spinal vascular malformations in patients with HHT. Of the more than 800 patients with the diagnosis of HHT screened at our institution from 1995 through 2017, four patients with spinal vascular malformations (age range 1 month-77 years; 2 male, 2 female) were identified, three of whom came to clinical attention after significant neurological deterioration from previously unknown malformations...
February 2, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29395350/intravenous-bevacizumab-for-refractory-hereditary-hemorrhagic-telangiectasia-related-epistaxis-and-gastrointestinal-bleeding
#5
Vivek N Iyer, Dinesh R Apala, Bibek S Pannu, Aditya Kotecha, Waleed Brinjikji, Michael D Leise, Patrick S Kamath, Sanjay Misra, Kebede H Begna, Rodrigo Cartin-Ceba, Hilary M DuBrock, Michael J Krowka, Erin K O'Brien, Rajiv K Pruthi, Darrell R Schroeder, Karen L Swanson
OBJECTIVE: To present a multiyear clinical experience with intravenous bevacizumab for the management of severe gastrointestinal bleeding and/or epistaxis in patients with hereditary hemorrhagic telangiectasia (HHT). PATIENTS AND METHODS: All patients treated with intravenous bevacizumab for severe hereditary hemorrhagic telangiectasia-related bleeding from June 1, 2013, through January 31, 2017, were included in this report. Severity of epistaxis (determined using the Epistaxis Severity Score questionnaire); hemoglobin, iron, and ferritin levels; and quality of life data were collected serially in all patients...
January 9, 2018: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29395348/the-current-role-of-bevacizumab-in-the-treatment%C3%A2-of-hereditary-hemorrhagic-telangiectasia-related%C3%A2-bleeding
#6
EDITORIAL
James R Gossage
No abstract text is available yet for this article.
January 9, 2018: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29393992/medical-treatment-of-epistaxis-in-hereditary-hemorrhagic-telangiectasia-an-evidence-based-review
#7
Ashleigh A Halderman, Matthew W Ryan, Christopher Clark, Raj Sindwani, Douglas D Reh, David M Poetker, Rosangela Invernizzi, Bradley F Marple
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant hereditary disorder resulting in vascular dysplasia and formation of arteriovenous malformations. Recurrent epistaxis is a hallmark of the disease. An array of medical therapies are used in this patient population, but robust evidence-based recommendations regarding the medical treatment of epistaxis are lacking. This systematic review was performed to look at the current literature and make meaningful evidence-based recommendations...
February 2, 2018: International Forum of Allergy & Rhinology
https://www.readbyqxmd.com/read/29390976/probiotics-and-infective-endocarditis-in-patients-with-hereditary-hemorrhagic-telangiectasia-a-clinical-case-and-a-review-of-the-literature
#8
Evangelo Boumis, Alessandro Capone, Vincenzo Galati, Carolina Venditti, Nicola Petrosillo
BACKGROUND: In the last decades, probiotics have been widely used as food supplements because of their putative beneficial health effects. They are generally considered safe but rare reports of serious infections caused by bacteria included in the definition of probiotics raise concerns on their potential pathogenic role in patients with particular predisposing factors. Patients with hereditary hemorrhagic telangiectasia (HHT) are exposed to infections because of telangiectasias and arteriovenous malformations (AVMs)...
February 1, 2018: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29350590/human-genetics-and-molecular-mechanisms-of-vein-of-galen-malformation
#9
Daniel Duran, Philipp Karschnia, Jonathan R Gaillard, Jason K Karimy, Mark W Youngblood, Michael L DiLuna, Charles C Matouk, Beverly Aagaard-Kienitz, Edward R Smith, Darren B Orbach, Georges Rodesch, Alejandro Berenstein, Murat Gunel, Kristopher T Kahle
Vein of Galen malformations (VOGMs) are rare developmental cerebrovascular lesions characterized by fistulas between the choroidal circulation and the median prosencephalic vein. Although the treatment of VOGMs has greatly benefited from advances in endovascular therapy, including technical innovation in interventional neuroradiology, many patients are recalcitrant to procedural intervention or lack accessibility to specialized care centers, highlighting the need for improved screening, diagnostics, and therapeutics...
January 19, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29349377/emergency-thoracic-endovascular-aortic-repair-with-celiac-artery-coverage-in-hereditary-hemorrhagic-telangiectasia
#10
Yuji Kawano, Yuji Kanaoka, Nobuhiko Hiraiwa, Daisuke Nakatsuka, Minoru Tabata
Celiac artery (CA) coverage during thoracic endovascular aortic repair has been demonstrated to be a feasible and effective strategy for selected cases. However, there is a potential risk of ischemic complications due to CA coverage in patients with certain types of hereditary hemorrhagic telangiectasia (HHT). Herein, we report a case of thoracoabdominal aortic rupture in a patient with HHT that was successfully treated with emergency thoracic endovascular aortic repair covering the CA preceded by hepatic artery bypass...
June 2017: Journal of Vascular Surgery Cases and Innovative Techniques
https://www.readbyqxmd.com/read/29339534/inactivating-mutations-in-drosha-mediate-vascular-abnormalities-similar-to-hereditary-hemorrhagic-telangiectasia
#11
Xuan Jiang, Whitney L Wooderchak-Donahue, Jamie McDonald, Prajakta Ghatpande, Mai Baalbaki, Melissa Sandoval, Daniel Hart, Hilary Clay, Shaun Coughlin, Giorgio Lagna, Pinar Bayrak-Toydemir, Akiko Hata
The transforming growth factor-β (TGF-β) and bone morphogenetic protein (BMP) family of cytokines critically regulates vascular morphogenesis and homeostasis. Impairment of TGF-β or BMP signaling leads to heritable vascular disorders, including hereditary hemorrhagic telangiectasia (HHT). Drosha, a key enzyme for microRNA (miRNA) biogenesis, also regulates the TGF-β and BMP pathway through interaction with Smads and their joint control of gene expression through miRNAs. We report that mice lacking Drosha in the vascular endothelium developed a vascular phenotype resembling HHT that included dilated and disorganized vasculature, arteriovenous fistulae, and hemorrhages...
January 16, 2018: Science Signaling
https://www.readbyqxmd.com/read/29305977/functional-analysis-of-a-novel-eng-variant-in-a-patient-with-hereditary-hemorrhagic-telangiectasia-hht-identifies-a-new-sp1-binding-site
#12
Sara Plumitallo, Lidia Ruiz-Llorente, Carmen Langa, Jacopo Morini, Gabriele Babini, Donata Cappelletti, Laura Scelsi, Alessandra Greco, Cesare Danesino, Carmelo Bernabeu, Carla Olivieri
Hereditary Hemorrhagic Telangiectasia (HHT) is a rare disease, with an autosomal dominant inheritance and a worldwide incidence of about 1: 5000 individuals. In >80% of patients, HHT is caused by mutations in either ENG or ACVRL1, which code for ENDOGLIN and Activin A Receptor Type II-Like Kinase 1 (ALK1), belonging to the TGF-β/BMP signalling pathway. Typical HHT clinical features are mucocutaneous telangiectases, arteriovenous malformations, spontaneous and recurrent epistaxis, as well as gastrointestinal bleedings...
January 3, 2018: Gene
https://www.readbyqxmd.com/read/29281110/surgical-treatment-vs-nonsurgical-treatment-for-brain-arteriovenous-malformations-in-patients-with-hereditary-hemorrhagic-telangiectasia-a-retrospective-multicenter-consortium-study
#13
https://www.readbyqxmd.com/read/29274888/echocardiography-grading-for-pulmonary-arteriovenous-malformation-screening-in-children-with-hereditary-hemorrhagic-telangiectasia
#14
Nigel Fernandopulle, Luc Mertens, Michelle Klingel, David Manson, Felix Ratjen
Transthoracic contrast echocardiography (TTCE) has high sensitivity but low specificity in screening for pulmonary arteriovenous malformations (pAVMs) in children with hereditary hemorrhagic telangiectasia (HHT). Here we describe characteristics of TTCE that might be used to reduce the need for confirmatory computed tomography scans in children with HHT.
December 20, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29243366/eng-mutational-mosaicism-in-a-family-with-hereditary-hemorrhagic-telangiectasia
#15
Pernille M Tørring, Anette D Kjeldsen, Lilian Bomme Ousager, Klaus Brusgaard
BACKGROUND: Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disorder caused by mutations in ENG, ACVRL1, or SMAD4. Around 90% of HHT patients present with a heterozygous pathogenic genetic variation. Almost all cases of HHT have a family history. Very few cases are de novo or mosaicism. We describe a case with mutational mosaicism that would not be observed in the clinical routine when using Sanger sequencing or a NGS read coverage below app. 100. METHODS: DNA was extracted from peripheral blood leukocytes, and buccal swabs...
December 14, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29217066/hereditary-hemorrhagic-telangiectasia
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
34216
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"