25 research outputs found

    The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

    Get PDF
    The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve the recognition and management of this group of at risk individuals. Here we report a cohort of 86 acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) families with 49 harboring germline variants in 16 previously defined loci (57%). Whole exome sequencing in a further 37 uncharacterized families (43%) allowed us to rationalize 65 new candidate loci, including genes mutated in rare hematological syndromes (ADA, GP6, IL17RA, PRF1 and SEC23B), reported in prior MDS/AML or inherited bone marrow failure series (DNAH9, NAPRT1 and SH2B3) or variants at novel loci (DHX34) that appear specific to inherited forms of myeloid malignancies. Altogether, our series of MDS/AML families offer novel insights into the etiology of myeloid malignancies and provide a framework to prioritize variants for inclusion into routine diagnostics and patient management

    A National Study of Multiple Organ Dysfunction after Trauma: Contemporary Patterns of Severity and Recovery

    Get PDF
    Background: The nature of multiple organ dysfunction syndrome (MODS) after traumatic injury is evolving as resuscitation practices advance and more patients survive their injuries to reach critical care. The aim of this study was to characterize contemporary MODS subtypes in trauma critical care at a population level. Methods: Adult patients admitted to major trauma centre critical care units were enrolled in this 4‐week point‐prevalence study. MODS was defined by a daily total Sequential Organ Failure Assessment (SOFA) score of more than 5. Hierarchical clustering of SOFA scores over time was used to identify MODS subtypes. Results: Some 440 patients were enrolled, of whom 245 (55·7 per cent) developed MODS. MODS carried a high mortality rate (22·0 per cent versus 0·5 per cent in those without MODS; P < 0·001) and 24·0 per cent of deaths occurred within the first 48 h after injury. Three patterns of MODS were identified, all present on admission. Cluster 1 MODS resolved early with a median time to recovery of 4 days and a mortality rate of 14·4 per cent. Cluster 2 had a delayed recovery (median 13 days) and a mortality rate of 35 per cent. Cluster 3 had a prolonged recovery (median 25 days) and high associated mortality rate of 46 per cent. Multivariable analysis revealed distinct clinical associations for each form of MODS; 24‐hour crystalloid administration was associated strongly with cluster 1 (P = 0·009), traumatic brain injury with cluster 2 (P = 0·002) and admission shock severity with cluster 3 (P = 0·003). Conclusion: Contemporary MODS has at least three distinct types based on patterns of severity and recovery. Further characterization of MODS subtypes and their underlying pathophysiology may lead to future opportunities for early stratification and targeted interventions

    Seasons in Hell: Covering the Bosnia War

    No full text
    A public presentation by British Journalist Ed Vulliamy, author of Seasons in Hell: Understanding Bosnia\u27s War. Free and open to the public

    Tapes of wrath

    No full text

    Seasons in hell: understanding Bosnia's war

    No full text
    This book is an anecdotal, close-range narrative of Vulliamy's discovery of the infamous Serbian camps, of refugees walking the mountain roads to nowhere, and of the tortuous siege of Sarajevo, once a great European capital

    Bosnia after Genocide: Reckoning with the Destruction of Prijedor

    No full text
    Edin Ramulić, president of the Bosnian advocacy organization Izvor, and Ed Vulliamy, a noted journalist who covered the Bosnian genocide and who continues to advocate for survivors, address the wartime destruction of Prijedor and its aftermath. 5-6 pm, Reception (Anheuser-Busch Hall, north end of second floor hallway) 6:30 pm, Presentation by Edin Ramulic and Ed Vulliamy (Lewis Auditorium, lower level of the Jack C. Taylor Library) The exhibit Prijedor: Lives from the Bosnian Genocide will be on display in the south end of the hall

    After Prijedor: A Panel Discussion

    No full text
    A panel discussion featuring Edin Ramulic and Ed Vulliamy. Moderated by Ben Moore. Special thanks to Amir Karadzic, Patrick McCarthy, Barbara Nwacha, and Lucy Allen
    corecore