Transcriptional profiling of peripheral blood mononuclear cells identifies inflammatory phenotypes in Ataxia Telangiectasia

Autor: Nigel S. Michki, Benjamin D. Singer, Javier V. Perez, Aaron J. Thomas, Valerie Natale, Kathryn A. Helmin, Jennifer Wright, Leon Cheng, Lisa R. Young, Howard M. Lederman, Sharon A. McGrath-Morrow

Publikováno v: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-13 (2024)

Abstract Introduction Ataxia telangiectasia (A-T) is an autosomal recessive neurodegenerative disease with widespread systemic manifestations and marked variability in clinical phenotypes. In this study, we sought to determine whether transcriptomic

Externí odkaz: https://doaj.org/article/7728c4ec26df47879e833f078300c83e

Study design of a randomised, placebo-controlled trial of nintedanib in children and adolescents with fibrosing interstitial lung disease

Autor: Robin Deterding, Matthias Griese, Gail Deutsch, David Warburton, Emily M. DeBoer, Steven Cunningham, Annick Clement, Nicolaus Schwerk, Kevin R. Flaherty, Kevin K. Brown, Florian Voss, Ulrike Schmid, Rozsa Schlenker-Herceg, Daniela Verri, Mihaela Dumistracel, Marilisa Schiwek, Susanne Stowasser, Kay Tetzlaff, Emmanuelle Clerisme-Beaty, Lisa R. Young

Publikováno v: ERJ Open Research, Vol 7, Iss 2 (2021)

Childhood interstitial lung disease (chILD) comprises >200 rare respiratory disorders, with no currently approved therapies and variable prognosis. Nintedanib reduces the rate of forced vital capacity (FVC) decline in adults with progressive fibrosin

Externí odkaz: https://doaj.org/article/44d5db22b39344b2a8349a04d7f20b85

Serum vascular endothelial growth factor-D as a diagnostic and therapeutic biomarker for lymphangioleiomyomatosis.

Autor: Masaki Hirose, Akiko Matsumuro, Toru Arai, Chikatoshi Sugimoto, Masanori Akira, Masanori Kitaichi, Lisa R Young, Francis X McCormack, Yoshikazu Inoue

Publikováno v: PLoS ONE, Vol 14, Iss 2, p e0212776 (2019)

BackgroundIn lymphangioleiomyomatosis (LAM), tuberous sclerosis gene mutations activate the mechanistic target of the rapamycin pathway, resulting in vascular endothelial growth factor-D (VEGF-D) overproduction. While the utility of serum VEGF-D test

Externí odkaz: https://doaj.org/article/6db2a1fd9f1a469ba22ca984cf73584d

Lung biopsy in the diagnosis and management of chILD

Autor: Gail H. Deutsch, Lisa R. Young

Publikováno v: Pediatric Pulmonology.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b64f82f8858c9c28034ceefd0522b053
https://doi.org/10.1002/ppul.26454

Nintedanib in children and adolescents with fibrosing interstitial lung diseases

Autor: Robin Deterding, Lisa R. Young, Emily M. DeBoer, David Warburton, Steven Cunningham, Nicolaus Schwerk, Kevin R. Flaherty, Kevin K. Brown, Mihaela Dumistracel, Elvira Erhardt, Julia Bertulis, Martina Gahlemann, Susanne Stowasser, Matthias Griese

Publikováno v: Deterding, R, Young, L R, Deboer, E M, Warburton, D, Cunningham, S, Schwerk, N, Flaherty, K R, Brown, K K, Dumistracel, M, Erhardt, E, Bertulis, J, Gahlemann, M, Stowasser, S & Griese, M 2022, ' Nintedanib in children and adolescents with fibrosing interstitial lung diseases ', European Respiratory Journal, pp. 2201512 . https://doi.org/10.1183/13993003.01512-2022

BackgroundChildhood interstitial lung disease (ILD) comprises a spectrum of rare ILDs affecting infants, children and adolescents. Nintedanib is a licensed treatment for pulmonary fibrosis in adults. The primary objectives of the InPedILD trial were

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72c712a1cc944983f9f8def4eca1ff76
https://hdl.handle.net/20.500.11820/a75c4b24-d760-4df6-9c56-a53ad94fb84a