Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes

Autor: Sahoo S. S., Pastor V. B., Goodings C., Voss R. K., Kozyra E. J., Szvetnik A., Noellke P., Dworzak M., Stary J., Locatelli F., Masetti R., Schmugge M., De Moerloose B., Catala A., Kallay K., Turkiewicz D., Hasle H., Buechner J., Jahnukainen K., Ussowicz M., Polychronopoulou S., Smith O. P., Fabri O., Barzilai S., de Haas V., Baumann I., Schwarz-Furlan S., Moerloose B. D., Smith O., Haas V. D., Gohring G., Niemeyer C., Nebral K., Simonitsch-Kluppp I., Paepe P. D., Van Roy N., Campr V., Zemanova Z., Clasen-Linde E., Plesner T., Schlegelberger B., Rudelius M., Manola K., Stefanaki K., Csomor J., Andrikovics H., Betts D., O'Sullivan M., Zohar Y., Jeison M., Vito R. D., Pasquali F., Maldyk J., Haus O., Alaiz H., Kjollerstrom P., Lemos L. M., Bodova I., Cermak M., Plank L., Gazic B., Kavcic M., Podgornik H., Ros M. L., Cervera J., Gengler C., Tchinda J., Beverloo B., Leguit R., Niewisch M. R., Sauer M. G., Burkhardt B., Lang P., Bader P., Beier R., Muller I., Albert M. H., Meisel R., Schulz A., Cario G., Panda P. K., Wehrle J., Hirabayashi S., Derecka M., Durruthy-Durruthy R., Yoshimi-Noellke A., Ku M., Lebrecht D., Erlacher M., Flotho C., Strahm B., Niemeyer C. M., Wlodarski M. W.

Publikováno v: Nat Med
Nature Medicine, 27(10), 1806-1817. Nature Publishing Group
Sahoo, S S, Pastor, V B, Goodings, C, Voss, R K, Kozyra, E J, Szvetnik, A, Noellke, P, Dworzak, M, Starý, J, Locatelli, F, Masetti, R, Schmugge, M, De Moerloose, B, Catala, A, Kállay, K, Turkiewicz, D, Hasle, H, Buechner, J, Jahnukainen, K, Ussowicz, M, Polychronopoulou, S, Smith, O P, Fabri, O, Barzilai, S, de Haas, V, Baumann, I, Schwarz-Furlan, S, Niewisch, M R, Sauer, M G, Burkhardt, B, Lang, P, Bader, P, Beier, R, Müller, I, Albert, M H, Meisel, R, Schulz, A, Cario, G, Panda, P K, Wehrle, J, Hirabayashi, S, Derecka, M, Durruthy-Durruthy, R, Göhring, G, Yoshimi-Noellke, A, Ku, M, Lebrecht, D, Erlacher, M, Flotho, C, Strahm, B, Niemeyer, C M, European Working Group of MDS in Children (EWOG-MDS) & Wlodarski, M W 2021, ' Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes ', Nature Medicine, vol. 27, no. 10, pp. 1806-1817 . https://doi.org/10.1038/s41591-021-01511-6

Germline SAMD9 and SAMD9L mutations (SAMD9/9Lmut) predispose to myelodysplastic syndromes (MDS) with propensity for somatic rescue. In this study, we investigated a clinically annotated pediatric MDS cohort (n = 669) to define the prevalence, genetic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6e81b72e27d4c9c76679649a64ad2cf
http://hdl.handle.net/11585/836418

Publisher Correction: Clinical evolution, genetic landscape and trajectories of clonal hematopoiesis in SAMD9/SAMD9L syndromes (Nature Medicine, (2021), 27, 10, (1806-1817), 10.1038/s41591-021-01511-6)

Autor: Sahoo, S. S., Pastor, V. B., Goodings, C., Voss, R. K., Kozyra, E. J., Szvetnik, A., Noellke, P., Dworzak, M., Stary, J., Locatelli, Franco, Masetti, R., Schmugge, M., De Moerloose, B., Catala, A., Kallay, K., Turkiewicz, D., Hasle, H., Buechner, J., Jahnukainen, K., Ussowicz, M., Polychronopoulou, S., Smith, O. P., Fabri, O., Barzilai, S., de Haas, V., Baumann, I., Schwarz-Furlan, S., Smith, O., Haas, V. D., Gohring, G., Niemeyer, C., Nebral, K., Simonitsch-Kluppp, I., Paepe, P. D., Van Roy, N., Campr, V., Zemanova, Z., Clasen-Linde, E., Plesner, T., Schlegelberger, B., Rudelius, M., Manola, K., Stefanaki, K., Csomor, J., Andrikovics, H., Betts, D., O'Sullivan, M., Zohar, Y., Jeison, M., Vito, R. D., Pasquali, F., Maldyk, J., Haus, O., Alaiz, H., Kjollerstrom, P., Lemos, L. M., Bodova, I., Cermak, M., Plank, L., Gazic, B., Kavcic, M., Podgornik, H., Ros, M. L., Cervera, J., Gengler, C., Tchinda, J., Beverloo, B., Leguit, R., Niewisch, M. R., Sauer, M. G., Burkhardt, B., Lang, P., Bader, P., Beier, R., Muller, I., Albert, M. H., Meisel, R., Schulz, A., Cario, G., Panda, P. K., Wehrle, J., Hirabayashi, S., Derecka, M., Durruthy-Durruthy, R., Yoshimi-Noellke, A., Ku, M., Lebrecht, D., Erlacher, M., Flotho, C., Strahm, B., Niemeyer, C. M., Wlodarski, M. W.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2601::111388b43ff6bd962c380c112da05bd2
https://hdl.handle.net/10807/229515

Propofol-induced acute pancreatitis.

Autor: Csomor, J.¹ jan.csomor@uvn.cz, Murínová, I.^2,3, Broulíková, K.¹, Kučerka, O.¹, Sedloň, P.¹, Jarošek, J.⁴, Urbánek, P.¹, Zavoral, M.¹

Publikováno v: Journal of Clinical Pharmacy & Therapeutics. Aug2017, Vol. 42 Issue 4, p495-498. 4p.

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DIABETIC KETOACIDOSIS WITH AN ACUTE ABDOMEN AS A FIRST MANIFESTATION OF TYPE 1 DIABETES MELLITUS.

Autor: Csomor, J.¹ jan.csomor@uvn.cz, Jirkovska, J.¹, Vedralova, L.¹, Solar, S.¹, Grega, T.¹, Urbanek, P.¹, Zavoral, M.¹

Publikováno v: Acta Endocrinologica (1841-0987). Oct-Dec2017, Vol. 13 Issue 4, p509-511. 3p.