RUNX1 amplification in AML with myelodysplasia-related changes and ring 21 chromosomes.

Ring 21 is an unstable structural abnormality of chromosome 21 that can lead to RUNX1 gene amplification. We present a unique case with a carrier patient of a constitutional ring chromosome 21 (partial monosomy and trisomy 21) with dysmorphic features and congenital malformations phenotype, who developed acute myeloid leukaemia with myelodysplasia-related changes and two ring 21 chromosomes with RUNX1 amplification. The patient's constitutional ring 21 chromosome showed alterations in tumour suppressor genes, and oncogenes, but not in RUNX1. RUNX1 gene expression at acute myeloid leukaemia diagnosis, showed no upregulation, so other genes may also be the genetic amplification targets in this patient. Copyright © 2016 John Wiley & Sons, Ltd.

All-optical microdisk switch using EIT.

We present theoretical results of a low-loss all-optical switch based on electromagnetically induced transparency and the quantum Zeno effect in a microdisk resonator. We show that a control beam can modify the atomic absorption of the evanescent field which suppresses the cavity field buildup and alters the path of a weak signal beam. We predict more than 35 dB of switching contrast with less than 0.1 dB loss using just 2 µW of control-beam power for signal beams with less than single photon intensities inside the cavity.

An integrated diamond nanophotonics platform for quantum-optical networks.

Efficient interfaces between photons and quantum emitters form the basis for quantum networks and enable optical nonlinearities at the single-photon level. We demonstrate an integrated platform for scalable quantum nanophotonics based on silicon-vacancy (SiV) color centers coupled to diamond nanodevices. By placing SiV centers inside diamond photonic crystal cavities, we realize a quantum-optical switch controlled by a single color center. We control the switch using SiV metastable states and observe optical switching at the single-photon level. Raman transitions are used to realize a single-photon source with a tunable frequency and bandwidth in a diamond waveguide. By measuring intensity correlations of indistinguishable Raman photons emitted into a single waveguide, we observe a quantum interference effect resulting from the superradiant emission of two entangled SiV centers.

NUP98-HOXA9 bearing therapy-related myeloid neoplasm involves myeloid-committed cell and induces HOXA5, EVI1, FLT3, and MEIS1 expression.

INTRODUCTION: Chromosomal rearrangements involving NUP98 gene have been associated with human leukemias such as de novo AML, therapy-related AML (t-AML), myelodysplastic syndrome (MDS), and chronic myeloid leukemia (CML). Genetic fusion NUP98-HOXA9, caused by t(7;11)(p15;p15), is a recurrent cytogenetic alteration in de novo acute myeloid leukemia (AML) usually found in young Asian patients and its description in therapy-related myeloid neoplasms (t-MN) is rare. Only one Asian case with molecular demonstration of the NUP98-HOXA9 fusion has been reported in therapy-related leukemia. NUP98-HOXA9 leukemogenic mechanism is derived from the transcription factor activity of the chimeric protein, which enhances the expression of genes related to cellular differentiation arrest and proliferation. PATIENTS AND METHODS: We studied a Caucasian woman with a therapy-related acute myeloid leukemia after Ewing's sarcoma. Molecular demonstration of the genetic fusion NUP98-HOXA9 was performed by RT-PCR, and gene expression was analyzed by real-time PCR, including four AML patients with MLL rearrangements for comparative analysis. Cytologic and flow cytometric analysis was also carried out. RESULTS: After cytologic and flow cytometric analysis diagnostics was therapy-related myeloid neoplasm (t-MN). The major component of blasts in the acute leukemia was with neutrophilic differentiation, but 13% erythroid lineage blasts were also found. Cytogenetic and FISH analysis revealed t(7;11)(p15;p15) and NUP98-HOXA9 fusion gene was demonstrated. Gene expression analysis showed upregulation of EVI1 and MEIS1 in the index patient, both of them previously related to a worst outcome. CONCLUSION: In this work, we include a detailed molecular, clinical, cytological, and cytometric study of the second t-AML bearing NUP98-HOXA9 genetic fusion.

[Diagnostic value of exhaled nitric oxide measurement in mild asthma]. / Valor de la determinación de óxido nítrico exhalado en el diagnóstico de asma episódica.

OBJECTIVES: To assess the diagnostic value of fractional exhaled nitric oxide (FE(NO)) in mild asthma. MATERIAL AND METHODS: Cross-sectional descriptive study in a group of patients with no history of respiratory or allergic illness (control group) and a group of patients with a history of mild asthma with no baseline treatment (asthma group), both aged 6 to 14 years. The following examinations were performed: measurement of FE(NO) using the portable NIOX MINO(®) device, allergy tests and spirometry. Repeatability of paired FE(NO) measurements was estimated with the intraclass correlation coefficient, the repeatability coefficient and the variation coefficient. The diagnostic value was assessed with the sensitivity, specificity, area under the ROC curve and positive likelihood ratio (LR+) for each cut-off point. RESULTS: Eighty-seven patients were included in the control group and 57 in the asthma group. The mean FE(NO) value was 12.1 ppb (SD 13.5) in the control group and 42.9 ppb (SD 24.5) in asthmatics (P<.001). The intraclass correlation coefficient was 0.98 (95% CI: 0.96-0.99) and of 0.97 (95% CI: 0.92-0.99) in controls and asthmatics, respectively. The repeatability coefficient was 5.5 in controls and 9.2 in asthmatic children, and the median variation coefficient was 8.3% and 6.1%. The optimal cut-off value for FE(NO) was 19 ppb (sensitivity and specificity were 91.4% and 87.2%, respectively). The area under the ROC curve was 0.93 (95% CI: 0.88-0.97) (P<.001) and the LR+ was 7.1. Subclinical sensitisation to pneumoallergens accounted for most false positive cases. CONCLUSIONS: The determination of FE(NO) with NIOX MINO(®) has an adequate repeatability, especially for healthy patients. For asthmatic patients we recommend determining the average of two measurements. The test has a high diagnostic value in mild asthma. Subclinical sensitisation to pneumoallergens can cause the FE(NO) value to rise to pathologic levels.