Molecular prognostic markers for adult acute myeloid leukemia with normal cytogenetics

Acute myeloid leukemia (AML) is a heterogenous disorder that results from a block in the differentiation of hematopoietic progenitor cells along with uncontrolled proliferation. In approximately 60% of cases, specific recurrent chromosomal aberrations can be identified by modern cytogenetic techniques. This cytogenetic information is the single most important tool to classify patients at their initial diagnosis into three prognostic categories: favorable, intermediate, and poor risk. Currently, favorable risk AML patients are usually treated with contemporary chemotherapy while poor risk AML patients receive allogeneic stem cell transplantation if suitable stem cell donors exist. The largest subgroup of AML patients (~40%) have no identifiable cytogenetic abnormalities and are classified as intermediate risk. The optimal therapeutic strategies for these patients are still largely unclear. Recently, it is becoming increasingly evident that it is possible to identify a subgroup of poorer risk patients among those with normal cytogenic AML (NC-AML). Molecular risk stratification for NC-AML patients may be possible due to mutations of NPM1, FLT3, MLL, and CEBPα as well as alterations in expression levels of BAALC, MN1, ERG, and AF1q. Further prospective studies are needed to confirm if poorer risk NC-AML patients have improved clinical outcomes after more aggressive therapy

Mogelijke schade door waterberging op landbouwgrond

De implementatie van 'Waterbeheer 21e eeuw' richt zich momenteel vooral op de kwantitatieve aspecten van waterberging. Waar, wanneer, hoeveel en hoelang kan water worden geborgen? Aan de kwalitatieve effecten hiervan op gewassen, vee en productie-omstandigheden is tot nu toe nog weinig aandacht besteed. Vanuit de landbouw is aangedrongen op onderzoek naar de effecten van waterberging. In opdracht van de STOWA is binnen het regionale watersysteem verkend of waterberging op korte of langere termijn grote risico’s met zich mee brengt voor de landbouw. Feiten en ficties zijn zo goed mogelijk in beeld gebracht. De studie is uitgevoerd door Alterra, Plant Research International en Centraal Instituut voor Dierziekte Controle (CIDC) Lelystad. De resultaten zijn door het Instituut voor Milieuvraagstukken van de Vrije Universiteit Amsterdam en het Centrum voor Landbouw en Milieu in een kennistabel bijeengebrach

Klimaatbuffers: wat bedoelen we eigenlijk?

Klimaatbuffers zijn bedoeld om stad en land te beschermen tegen klimaatverandering. Maar klimaatbuffers gaan ook over natuurlijke oplossingen en meer kansen voor natuur en landschap. De coalitie Natuurlijke Klimaatbuffers, een coalitie van zeven natuurorganisaties, zag de mogelijkheden en ging samenwerken met waterbeherend Nederland om natuurwinst te realiseren bij concrete inrichtingsprojecten die ons land klimaatbestendiger moeten maken. Dit themanummer brengt voorbeeldprojecten, opinie en verdieping bij elkaar om te onderstrepen dat dit nodig is en ook werkt

Mutalyzer 2: next generation HGVS nomenclature checker

Motivation: Unambiguous variant descriptions are of utmost importance in clinical genetic diagnostics, scientific literature and genetic databases. The Human Genome Variation Society (HGVS) publishes a comprehensive set of guidelines on how variants should be correctly and unambiguously described. We present the implementation of the Mutalyzer 2 tool suite, designed to automatically apply the HGVS guidelines so users do not have to deal with the HGVS intricacies explicitly to check and correct their variant descriptions.Results: Mutalyzer is profusely used by the community, having processed over 133 million descriptions since its launch. Over a five year period, Mutalyzer reported a correct input in similar to 50% of cases. In 41% of the cases either a syntactic or semantic error was identified and for similar to 7% of cases, Mutalyzer was able to automatically correct the description.Molecular Technology and Informatics for Personalised Medicine and Healt

Management Effects on Greenhouse Gas Dynamics in Fen Ditches

Globally, large areas of peatland have been drained through the digging of ditches, generally to increase agricultural production. By lowering the water table it is often assumed that drainage reduces landscape-scale emissions of methane (CH4) into the atmosphere to negligible levels. However, drainage ditches themselves are known to be sources of CH4 and other greenhouse gases (GHGs), but emissions data are scarce, particularly for carbon dioxide (CO2) and nitrous oxide (N2O), and show high spatial and temporal variability. Here, we report dissolved GHGs and diffusive fluxes of CH4 and CO2 from ditches at three UK lowland fens under different management; semi-natural fen, cropland, and cropland restored to low-intensity grassland. Ditches at all three fens emitted GHGs to the atmosphere, but both fluxes and dissolved GHGs showed extensive variation both seasonally and within-site. CH4 fluxes were particularly large, with medians peaking at all three sites in August at 120-230 mg m-2 d-1. Significant between site differences were detected between the cropland and the other two sites for CO2 flux and all three dissolved GHGs, suggested that intensive agriculture has major effects on ditch biogeochemistry. Multiple regression models using environmental and water chemistry data were able to explain 29-59% of observed variation in dissolved GHGs. Annual CH4 fluxes from the ditches were 37.8, 18.3 and 27.2 g CH4 m-2 yr-1 for the semi-natural, grassland and cropland, and annual CO2 fluxes were similar (1100 to 1440 g CO2 m-2 yr-1) among sites. We suggest that fen ditches are important contributors to landscape-scale GHG emissions, particularly for CH4. Ditch emissions should be included in GHG budgets of human modified fens, particularly where drainage has removed the original terrestrial CH4 source, e.g. agricultural peatlands

Outcomes of rare patients with a primary cutaneous CD30(+) lymphoproliferative disorder developing extracutaneous disease

Contains fulltext : 218224.pdf (Publisher’s version ) (Open Access

Generalized Molluscum Contagiosum Successfully Treated with Interferon-Alpha in a Patient with Folliculotropic Mycosis Fungoides

We present the case of a 50-year-old patient with folliculotropic mycosis fungoides (FMF) unresponsive to retinoids and the chemotherapeutic regimens CHOP, gemcitabine, and brentuximab-vedotin. During immunosuppressive therapy, the patient developed extensive progressive molluscum contagiosum. The mollusca did not respond to topical imiquimod but showed a swift complete response to interferon-alpha 2a (IFNa). Recently, the patient started with alemtuzumab as induction therapy for an allogenic stem cell transplantation and simultaneously continued IFNa therapy