IKAROS-how many feathers have you lost: mild and severe phenotypes in deficiency.

Heterozygous germline variants in human encoding for IKAROS define an inborn error of immunity with immunodeficiency, immune dysregulation and risk of malignancy with a broad phenotypic spectrum. Growing evidence of underlying pathophysiological genotype-phenotype correlations helps to improve our understanding of IKAROS-associated diseases. We describe 6 patients from 4 kindreds with two novel variants leading to haploinsufficiency from 3 centers in Germany.

Prognostic impact of CEBPA mutational subgroups in adult AML.

Despite recent refinements in the diagnostic and prognostic assessment of CEBPA mutations in AML, several questions remain open, i.e. implications of different types of basic region leucin zipper (bZIP) mutations, the role of co-mutations and the allelic state.

CEBPA mutations in 4708 patients with acute myeloid leukemia: differential impact of bZIP and TAD mutations on outcome.

Biallelic mutations of the CEBPA gene (CEBPAbi) define a distinct entity associated with favorable prognosis; however, the role of monoallelic mutations (CEBPAsm) is poorly understood. We retrospectively analyzed 4708 adults with acute myeloid leukemia (AML) who had been recruited into the Study Alliance Leukemia trials, to investigate the prognostic impact of CEBPAsm. CEBPA mutations were identified in 240 patients (5.

The prevalence of extramedullary acute myeloid leukemia detected by FDG-PET/CT: final results from the prospective PETAML trial.

Extramedullary (EM) disease in patients with acute myeloid leukemia (AML) is a known phenomenon. Since the prevalence of EM AML has so far only been clinically determined on examination, we performed a prospective study in patients with AML. The aim of the study was to determine the prevalence of metabolically active EM AML using total body Fluorodesoxy-glucose positron emission tomography/computed tomography (FDG-PET/CT) imaging at diagnosis prior to initiation of therapy.

Thermodynamic and Structural Studies on the Ln(III)/An(III) Malate Complexation.

The complexation of the trivalent lanthanides Nd(III) and Eu(III) and of the actinide Am(III) with malate was studied using a multi-method approach. The combination of structural and thermodynamic studies was required for the interpretation of the stoichiometry and thermodynamic data (log β, Δ H, Δ S, Δ G) of the lanthanide/actinide malate complexes leading to a profound molecular understanding of the system. The structure-sensitive methods vibrational spectroscopy and extended X-ray absorption fine structure spectroscopy complemented with quantum-mechanical ab initio molecular dynamics calculations revealed a tridentate ring structure of the respective metal complexes.

Chemosensory function before and after multimodal treatment in chronic rhinosinusitis patients.

Objectives/hypothesis: Olfactory dysfunction is common among the general population, with chronic rhinosinusitis (CRS) as one of the leading causes. Patients affected by CRS often report changes in taste sensations; however, quantitative measurements have not been performed to date. Therefore, the present study aimed to investigate gustatory and olfactory function in CRS patients prior to and after multimodal treatment.

A thermodynamical and structural study on the complexation of trivalent lanthanides with a polycarboxylate based concrete superplasticizer.

The complexation of trivalent lanthanides with a commercial polycarboxylate based concrete superplasticizer (Glenium® 51) is investigated using different spectroscopic techniques. Time-resolved laser fluorescence spectroscopy (TRLFS) in combination with a charge neutralization model is used to determine temperature dependent conditional stability constants (log β'(T)) for the complexation of Eu(iii) with Glenium® 51 in 0.1 mol kg NaCl solution in the temperature range of 20-90 °C.

First report on the isolation of Aureimonas altamirensis from a patient with peritonitis.

The isolation of Aureimonas altamirensis (a rare opportunistic pathogen with a yet unresolved pathogenicity) from the ascites fluid of a patient with bacterial peritonitis is reported. The strain was first identified by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) and the result was confirmed using 16S rDNA sequencing. An antimicrobial susceptibility profile was determined according to the European Committee on Antimicrobial Susceptibility Testing (EUCAST) guidelines published in 2013, revealing sensitivity to all antibiotics tested.

Long-term prognosis of acute myeloid leukemia according to the new genetic risk classification of the European LeukemiaNet recommendations: evaluation of the proposed reporting system.

Purpose: The current European LeukemiaNet (ELN) recommendations for acute myeloid leukemia (AML) propose a new risk reporting system, integrating molecular and cytogenetic factors and subdividing the large heterogenous group of intermediate-risk patients into intermediate-I (IR-I) and intermediate-II (IR-II). We assessed the prognostic value of the new risk classification in a large cohort of patients.

Patients And Methods: Complete data for classification were available for 1,557 of 1,862 patients treated in the AML96 trial.