Results 11 to 20 of about 6,804 (189)

Genotype–Phenotype Correlations in Children with HHT [PDF]

Journal of Clinical Medicine, 2020
Hereditary hemorrhagic telangiectasia (HHT), a rare autosomal dominant disease mostly caused by mutations in three known genes (ENG, ACVRL1, and SMAD4), is characterized by the development of vascular malformations (VMs). Patients with HHT may present with mucocutaneous telangiectasia, as well as organ arteriovenous malformations (AVMs) of the central ...
Alexandra Kilian, Giuseppe Latino, Andrew White, Dewi Clark, Murali Chakinala, Felix Ratjen, Jamie McDonald, Kevin Whitehead, James Gossage, Doris Lin, Katharine Henderson, Jeffrey Pollak, Justin McWilliams, Helen Kim, Michael Lawton, Marie Faughnan, the Brain Vascular Malformation Consortium HHT Investigator Group   +16 more
openaire   +4 more sources

High output cardiac failure in 3 patients with hereditary hemorrhagic telangiectasia and hepatic vascular malformations, evaluation of treatment

Orphanet Journal of Rare Diseases, 2020
Background This report addresses how patients with hereditary hemorrhagic telangiectasia (HHT) and high output cardiac failure (HOCF) due to hepatic vascular malformations, should be evaluated and could be treated.
Lilian B. Olsen, Anette D. Kjeldsen, Mikael K. Poulsen, Jens Kjeldsen, Annette D. Fialla   +4 more
doaj   +1 more source

Nationwide Awareness Campaign and Call for Dental Screening for Hereditary Hemorrhagic Telangiectasia in Germany

International Journal of Dentistry, 2023
Objectives. Hereditary hemorrhagic telangiectasia (HHT) is a rare disorder encompassing facial and oral telangiectasias and visceral vascular malformations (VMs).
Urban W. Geisthoff, Frank Hölzle, Boris A. Stuck, Joachim Jackowski, Catherine Hand Goetz, Christina Grabowski, Freya Droege   +6 more
doaj   +1 more source

European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT)

Orphanet Journal of Rare Diseases, 2020
Hereditary haemorrhagic telangiectasia (HHT) is a multisystemic vascular dysplasia inherited as an autosomal dominant trait. Approximately 10 % of patients have cerebral vascular malformations, a proportion being cerebral arteriovenous malformations ...
Omer F. Eker, Edoardo Boccardi, Ulrich Sure, Maneesh C. Patel, Saverio Alicante, Ali Alsafi, Nicola Coote, Freya Droege, Olivier Dupuis, Annette Dam Fialla, Bryony Jones, Ujwal Kariholu, Anette D. Kjeldsen, David Lefroy, Gennaro M. Lenato, Hans Jurgen Mager, Guido Manfredi, Troels H. Nielsen, Fabio Pagella, Marco C. Post, Catherine Rennie, Carlo Sabbà, Patrizia Suppressa, Pernille M. Toerring, Sara Ugolini, Elisabetta Buscarini, Sophie Dupuis-Girod, Claire L. Shovlin   +27 more
doaj   +1 more source

Dietary iron intake and anemia: food frequency questionnaire in patients with hereditary hemorrhagic telangiectasia

Orphanet Journal of Rare Diseases, 2020
Background Hereditary hemorrhagic telangiectasia (HHT) is a multisystemic inherited vascular disease characterized by a heterogeneous clinical presentation and prognosis.
Federica Cavalcoli, Alberto Gandini, Irene Aglaia Matelloni, Francesca Catalano, Saverio Alicante, Guido Manfredi, Gianfranco Brambilla, Fernanda Menozzi, Federica Perolini, Egon Costi, Roberto Bertè, Elisabetta Buscarini   +11 more
doaj   +1 more source

Harmonic Detection Algorithm for Traction Power Supply System Based on ICEEMDAN and Teager Energy Operator

Kongzhi Yu Xinxi Jishu, 2023
In view that the conventional harmonic detection algorithms cannot support analysis on nonlinear and non-stationary harmonics in the traction power supply systems, this paper proposes a harmonic detection algorithm based on the improved complete ensemble
XIE Zeen
doaj   +1 more source

Optimization of the HHT 1640MWth Demonstration Nuclear Power Plant (HHT-Project) [PDF]

Volume 2: Coal, Biomass and Alternative Fuels; Combustion and Fuels; Oil and Gas Applications; Cycle Innovations, 1981
In connection with the HHT-Project, the Swiss Federal Institute for Reactor Research has performed an Optimization Analysis of the HHT-1640 MWth Demonstration Plant with a Closed Cycle Helium Turbine One Loop Concept with Intercooling. This paper gives a description of the analysed plant and the development of the optimization techniques utilized ...
N. Gregory, E. Zollinger
openaire   +1 more source

Mononuclear cells and vascular repair in HHT [PDF]

Frontiers in Genetics, 2015
Hereditary hemorrhagic telangiectasia (HHT) or Rendu-Osler-Weber disease is a rare genetic vascular disorder known for its endothelial dysplasia causing arteriovenous malformations and severe bleedings. HHT-1 and HHT-2 are the most prevalent variants and are caused by heterozygous mutations in endoglin and activin receptor-like kinase 1, respectively ...
Dingenouts, Calinda K. E., Goumans, Marie-José, Bakker, Wineke   +2 more
openaire   +3 more sources

A case report on uneventful anticoagulation and persistence of Type 1 Respiratory Failure post severe COVID-19 infection in a patient of Osler–Weber–Rendu syndrome

Journal of Family Medicine and Primary Care, 2022
The SARS-CoV-2 pandemic has led researchers worldwide to study the patterns of association of SARS-CoV-2 with different diseases, which have been a prime focus of medical literature.
Sachin Gautam, Govind Mawari, Naresh Kumar, Sandeep Garg, Mradul Kumar Daga   +4 more
doaj   +1 more source

Research on the influence of blasting vibration on high-rise building near subway station

矿业科学学报, 2023
Making clear the vibration response law of buildings(structures)due to blasting is of great significance both engineeringly and the economically. By conducting blasting experiment at subway station entrance A, the vibration signal of building NO.2 was ...
Sun Zhongbo, Zhao Yixin, Wang Hailiang, Ren Jiandong   +3 more
doaj   +1 more source