Dokument-ID Dokumenttyp Verfasser/Autoren Herausgeber Haupttitel Abstract Auflage Verlagsort Verlag Erscheinungsjahr Seitenzahl Schriftenreihe Titel Schriftenreihe Bandzahl ISBN Quelle der Hochschulschrift Konferenzname Quelle:Titel Quelle:Jahrgang Quelle:Heftnummer Quelle:Erste Seite Quelle:Letzte Seite URN DOI Abteilungen OPUS4-22752 Wissenschaftlicher Artikel Saussele, Susanne; Hehlmann, Ruediger; Fabarius, Alice; Jeromin, Sabine; Proetel, Ulrike; Rinaldetti, Sebastien; Kohlbrenner, Katharina; Einsele, Hermann; Falge, Christine; Kanz, Lothar; Neubauer, Andreas; Kneba, Michael; Stegelmann, Frank; Pfreundschuh, Michael; Waller, Cornelius F.; Oppliger Leibundgut, Elisabeth; Heim, Dominik; Krause, Stefan W.; Hofmann, Wolf-Karsten; Hasford, Joerg; Pfirrmann, Markus; Müller, Martin C.; Hochhaus, Andreas; Lauseker, Michael Defining therapy goals for major molecular remission in chronic myeloid leukemia: results of the randomized CML Study IV Major molecular remission (MMR) is an important therapy goal in chronic myeloid leukemia (CML). So far, MMR is not a failure criterion according to ELN management recommendation leading to uncertainties when to change therapy in CML patients not reaching MMR after 12 months. At monthly landmarks, for different molecular remission status Hazard ratios (HR) were estimated for patients registered to CML study IV who were divided in a learning and a validation sample. The minimum HR for MMR was found at 2.5 years with 0.28 (compared to patients without remission). In the validation sample, a significant advantage for progression-free survival (PFS) for patients in MMR could be detected (p-value 0.007). The optimal time to predict PFS in patients with MMR could be validated in an independent sample at 2.5 years. With our model we provide a suggestion when to define lack of MMR as therapy failure and thus treatment change should be considered. The optimal response time for 1% BCR-ABL at about 12-15 months was confirmed and for deep molecular remission no specific time point was detected. Nevertheless, it was demonstrated that the earlier the MMR is achieved the higher is the chance to attain deep molecular response later. 2018 1222-1228 Leukemia 32 5 urn:nbn:de:bvb:20-opus-227528 10.1038/s41375-018-0055-7 Medizinische Klinik und Poliklinik II OPUS4-14999 Wissenschaftlicher Artikel Girschick, Hermann; Wolf, Christine; Morbach, Henner; Hertzberg, Christoph; Lee-Kirsch, Min Ae Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene Spondyloenchondrodysplasia (SPENCD) is a rare skeletal dysplasia, characterized by metaphyseal lesions, neurological impairment and immune dysregulation associated with lupus-like features. SPENCD is caused by biallelic mutations in the ACP5 gene encoding tartrate-resistant phosphatase. We report on a child, who presented with spasticity, multisystem inflammation, autoimmunity and immunodeficiency with minimal metaphyseal changes due to compound heterozygosity for two novel ACP5 mutations. These findings extend the phenotypic spectrum of SPENCD and indicate that ACP5 mutations can cause severe immune dysregulation and neurological impairment even in the absence of metaphyseal dysplasia. 2015 Pediatric Rheumatology 13 37 urn:nbn:de:bvb:20-opus-149990 10.1186/s12969-015-0035-7 Kinderklinik und Poliklinik