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VEXAS - Dr. Peter Grayson (Bethesda, MD)

Dr. Grayson discusses diagnosis, pathophysiology and treatment of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. VEXAS has been identified by a team of researchers including members of Dr. Grayson’s group only two years ago as a disorder that connects seemingly unrelated adult-onset inflammatory syndromes. Dr. Grayson is Acting Director, Rheumatology Fellowship Program Director and Chief of the Vasculitis Translational Research program at the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) in Bethesda, MD. The interview was recorded on July 26th, 2022. Moderators: Prof. Helen Lachmann (London, UK), Dr. Andreas Kronbichler (Cambridge, UK and Innsbruck, Austria) and Prof. Dr. Gunnar Heine (Frankfurt / Homburg, Germany). Articles discussed: Acute tubulointerstitial nephritis revealing VEXAS syndrome. Ronsin C, Benard L, Mourtada A, Perrin F, Boukerroucha Z. Kidney Int. 2022 doi: 10.1016/j.kint.2022.03.012. Further characterization of clinical and laboratory features in VEXAS syndrome: large-scale analysis of a multicentre case series of 116 French patients. Georgin-Lavialle S, Terrier B, Guedon AF, Heiblig M, Comont T, Lazaro E, Lacombe V, Terriou L, Ardois S, Bouaziz JD, Mathian A, Le Guenno G, Aouba A, Outh R, Meyer A, Roux-Sauvat M, Ebbo M, Zhao LP, Bigot A, Jamilloux Y, Guillotin V, Flamarion E, Henneton P, Vial G, Jachiet V, Rossignol J, Vinzio S, Weitten T, Vinit J, Deligny C, Humbert S, Samson M, Magy-Bertrand N, Moulinet T, Bourguiba R, Hanslik T, Bachmeyer C, Sebert M, Kostine M, Bienvenu B, Biscay P, Liozon E, Sailler L, Chasset F, Audemard-Verger A, Duroyon E, Sarrabay G, Borlot F, Dieval C, Cluzeau T, Marianetti P, Lobbes H, Boursier G, Gerfaud-Valentin M, Jeannel J, Servettaz A, Audia S, Larue M, Henriot B, Faucher B, Graveleau J, de Sainte Marie B, Galland J, Bouillet L, Arnaud C, Ades L, Carrat F, Hirsch P, Fenaux P, Fain O, Sujobert P, Kosmider O, Mekinian A; French VEXAS group; GFEV, GFM, CEREMAIA, MINHEMON. Br J Dermatol. 2022 Mar;186(3):564-574. doi: 10.1111/bjd.20805 Ruxolitinib is more effective than other JAK Inhibitors to treat VEXAS Syndrome: a retrospective multi center study. Heiblig M, Ferrada MA, Koster MJ, Barba T, Gerfaud-Valentin M, Mékinian A, Coelho H, Fossard G, Barraco F, Galicier L, Bienvenu B, Hirsch P, Vial G, Boutin AB, Galland J, Le Guenno G, Bigot A, Warrington KJ, Kermani TA, Grayson PC, Patel BA, Beck D, Jamilloux Y, Fenaux P, Sujobert P. Blood. 2022 May 24 doi: 10.1182/blood.2022016642. Online ahead of print Somatic Mutations in Rheumatologic Diseases: VEXAS Syndrome and Beyond. Sikora KA, Wells K, Bolek EC, Jones AI, Grayson PC. Rheumatology (Oxford). 2021 Dec 9:keab868. doi: 10.1093/rheumatology/keab868. Online ahead of print. Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS. Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC. Arthritis Rheumatol. 2021 doi: 10.1002/art.41743. Notes from the Field: VEXAS Syndrome and Disease Taxonomy in Rheumatology. Grayson PC, Beck DB, Ferrada MA, Nigrovic PA, Kastner DL. Arthritis Rheumatol. 2022 doi: 10.1002/art.42258. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, Balanda N, Ross DL, Ospina Cardona D, Wu Z, Patel B, Manthiram K, Groarke EM, Gutierrez-Rodrigues F, Hoffmann P, Rosenzweig S, Nakabo S, Dillon LW, Hourigan CS, Tsai WL, Gupta S, Carmona-Rivera C, Asmar AJ, Xu L, Oda H, Goodspeed W, Barron KS, Nehrebecky M, Jones A, Laird RS, Deuitch N, Rowczenio D, Rominger E, Wells KV, Lee CR, Wang W, Trick M, Mullikin J, Wigerblad G, Brooks S, Dell'Orso S, Deng Z, Chae JJ, Dulau-Florea A, Malicdan MCV, Novacic D, Colbert RA, Kaplan MJ, Gadina M, Savic S, Lachmann HJ, Abu-Asab M, Solomon BD, Retterer K, Gahl WA, Burgess SM, Aksentijevich I, Young NS, Calvo KR, Werner A, Kastner DL, Grayson PC. N Engl J Med. 2020 doi: 10.1056/NEJMoa2026834 Disorders of ubiquitylation: unchained inflammation. Beck DB, Werner A, Kastner DL, Aksentijevich I. Nat Rev Rheumatol. 2022 doi: 10.1038/s41584-022-00778-4 Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis. Ferrada MA, Savic S, Ospina Cardona D, Collins JC, Alessi H, Gutierrez-Rodrigues F, Uthaya Kumar DB, Wilson L, Goodspeed W, Topilow JS, Paik JJ, Poulter JA, Kermani TA, Koster MJ, Warrington K, Cargo CA, Tattersall RS, Duncan CJ, Cantor A, Hoffmann P, Payne EM, Bonnekoh H, Krause K, Cowen EW, Calvo KR, Patel BA, Ombrello AK, Kastner DL, Young NS, Werner A, Grayson PC, Beck DB. Blood. 2022 doi: 10.1182/blood.2022016985