Search

Acute promyelocytic leukemia (APL) is a subtype of myeloid leukemia characterized by differentiation block at the promyelocyte stage. Besides the presence of chromosomal rearrangement t(15;17), leading to the formation of PML-RARA (promyelocytic leukemia-retinoic acid receptor alpha) fusion, other genetic alterations have also been implicated in APL. Here, we performed comprehensive mutational analysis of primary and relapse APL to identify somatic alterations, which cooperate with PML-RARA in the pathogenesis of APL. We explored the mutational landscape using whole-exome (n=12) and subsequent targeted sequencing of 398 genes in 153 primary and 69 relapse APL. Both primary and relapse APL harbored an average of eight non-silent somatic mutations per exome. We observed recurrent alterations of FLT3, WT1, NRAS and KRAS in the newly diagnosed APL, whereas mutations in other genes commonly mutated in myeloid leukemia were rarely detected. The molecular signature of APL relapse was characterized by emergence of frequent mutations in PML and RARA genes. Our sequencing data also demonstrates incidence of loss-of-function mutations in previously unidentified genes, ARID1B and ARID1A, both of which encode for key components of the SWI/SNF complex. We show that knockdown of ARID1B in APL cell line, NB4, results in large-scale activation of gene expression and reduced in vitro differentiation potential.

Objective: To evaluate psychometric properties of the Chinese version of Dementia Quality of Life Measure - Proxy (C-DEMQoL-Proxy). Methods: Care home residents aged ≥60 years who were diagnosed with dementia or demonstrated impairment in cognition were recruited from four care facilities in Hong Kong. Caregivers of these participants were also invited to participate. The original DEMQoL-Proxy was translated into Chinese (Cantonese) by a trained translator. The forward-translated version was reviewed by an expert panel of six experienced healthcare professionals. Revisions were made based on comments. The instrument was back-translated to English to check whether further changes were necessary. Demographic data (age, sex, type and severity of dementia, and Mini-Mental State Examination [MMSE] score) were collected from medical records of participants with dementia. Caregivers were interviewed by an occupational therapist or personnel supervised by the occupational therapist using the C-DEMQoL-Proxy and the Chinese version of Quality of Life-Alzheimer's Disease-Proxy (C-QoL-AD-Proxy). Acceptability, reliability, and validity of the C-DEMQoL-Proxy were evaluated using standard psychometric methods. Results: 90 individuals (82.2% women) with dementia aged 72 to 102 years were included. Their diagnosis included Alzheimer's disease (23.3%), vascular dementia (15.6%), mixed and other types of dementias (51.1%), and missing (10%). Severity was mild in 12.2%, moderate in 62.2%, and severe in 25.6%. The mean MMSE score was 12.0 ± 4.9. 20% of the caregivers were family members and the rest were professional carers. The C-DEMQoL-Proxy had good acceptability, with no floor or ceiling effects or missing data. It had good internal consistency (Cronbach alpha = 0.91) and test-retest reliability (intraclass correlation coefficients = 0.83). It was mildly correlated with C-QoL-AD-Proxy (r = 0.29, p < 0.01). Age and sex were not correlated with C-DEMQoL-Proxy scores. C-DEMQoL-Proxy scores were not significantly different between dementia types, severity levels, or between those with higher or lower MMSE scores. Conclusion: The C-DEMQoL-Proxy is a valid and reliable instrument to assess health-related quality of life in individuals with dementia. [ABSTRACT FROM AUTHOR]

Several approaches have been employed to grow high-quality ZnSe epilayers on Ge/Ge0.95Si0.05/Ge0.9Si0.1/Si virtual substrates. The ZnSe epilayers were characterized by photoluminescence spectroscopy. Migration enhanced epitaxy and inserting an in situ thermal annealing ZnSe buffer layer effectively reduced the intensity of deep level emissions from the ZnSe epilayer grown on a 6°-tilted Ge/Ge0.95Si0.05/Ge0.9Si0.1/Si virtual substrate. Optimized conditions for growing high-quality ZnSe were used to deposit ZnCdSe/ZnSe multiple quantum wells on Ge/Ge0.95Si0.05/Ge0.9Si0.1/Si virtual substrates. Photoluminescence spectroscopy revealed quantum-confinement effect in the ZnCdSe multiple quantum wells. The evolution of the exciton emission peak energy and the linewidth as a function of temperature indicate a low density of localized sites in the sample with a well width of 1 nm. In the high-temperature regime, the thermal quenching of the excitonic emission intensity from ZnCdSe quantum well structures was governed by the thermal activation of carriers from quantum-well-confined states into barrier states. [ABSTRACT FROM AUTHOR]

The morphology and the size-dependent photoluminescence (PL) spectra of the type-II ZnTe quantum dots (QDs) grown in a ZnSe matrix were obtained. The coverage of ZnTe varied from 2.5 to 3.5 monolayers (MLs). The PL peak energy decreased as the dot size increased. Excitation power and temperature-dependent PL spectra are used to characterize the optical properties of the ZnTe quantum dots. For 2.5- and 3.0-ML samples, the PL peak energy decreased monotonically as the temperature increased. However, for the 3.5-ML sample, the PL peak energy was initially blueshifted and then redshifted as the temperature increased above 40 K. Carrier thermalization and carrier transfer between QDs are used to explain the experimental data. A model of temperature-dependent linewidth broadening is employed to fit the high-temperature data. The activation energy, which was found by the simple PL intensity quenching model, of the 2.5, 3.0, and 3.5 MLs were determined to be 6.35, 9.40, and 18.87 meV, respectively. [ABSTRACT FROM AUTHOR]

Zn[sub 1-χ]Mn[sub χ]Te (0≤[sub χ]≤0.268) epilayers were grown on GaAs(001) substrates by molecular beam epitaxy. The optical properties of the epilayers were studied using reflectivity, transmission, and photoluminescence (PL) measurements. The energy gaps of the epilayers were found to increase linearly with Mn concentration. From the PL spectra, a redshift of the PL peaks was observed as the temperature was increased. The exciton activation energies of the epilayers were determined by the plots of logarithmic-integrated PL intensity versus inverse temperature. Accordingly, they increase with Mn concentration. The Varshni and O'Donnell relations, which mimic the temperature dependence of semiconductor energy gaps were used to fit the experimental data [Y. P. Varshni, Physica 34, 149 (1967); R. P. O'Donnell and X. Chen, Appl. Phys. Lett. 58, 2924 (1991)]. Good fits were obtained by both relations. From the fitted results, the entropy of formation of electron-hole pairs in the Zn[sub 1-χ]Mn[sub χ]Te epilayers at room temperature was estimated to be roughly 0.5 meV/K. [ABSTRACT FROM AUTHOR]