DNA methylation markers in the diagnosis and prognosis of common leukemias.

The ability to identify a specific type of leukemia using minimally invasive biopsies holds great promise to improve the diagnosis, treatment selection, and prognosis prediction of patients. Using genome-wide methylation profiling and machine learning methods, we investigated the utility of CpG methylation status to differentiate blood from patients with acute lymphocytic leukemia (ALL) or acute myelogenous leukemia (AML) from normal blood. We established a CpG methylation panel that can distinguish ALL and AML blood from normal blood as well as ALL blood from AML blood with high sensitivity and specificity. We then developed a methylation-based survival classifier with 23 CpGs for ALL and 20 CpGs for AML that could successfully divide patients into high-risk and low-risk groups, with significant differences in clinical outcome in each leukemia type. Together, these findings demonstrate that methylation profiles can be highly sensitive and specific in the accurate diagnosis of ALL and AML, with implications for the prediction of prognosis and treatment selection.

Measuring engagement with music: development of an informant-report questionnaire.

OBJECTIVES: This study describes the development of the Music Engagement Questionnaire (MusEQ), a 35-item scale to measure engagement with music in daily life. Music has implications for well-being and for therapy, notably for individuals living with dementia. A number of excellent scales or questionnaires are now available to measure music engagement. Unlike these scales, the MusEQ may be completed by either the participant or an informant. METHOD: Study 1 drew on a community-based sample of 391 participants. Exploratory factor analysis revealed six interpretable factors, which formed the basis for construction of six subscales. Study 2 applied the MusEQ to a group of participants with Alzheimer's disease (AD; n = 16) as well as a group of neurotypical older adults (OA; n = 16). Informants completed the MusEQ, and the OA group also completed the self-report version of the MusEQ. Both groups had an interview in which they described the place music had in their lives. These interviews were scored by three independent raters. RESULTS: The MusEQ showed excellent internal consistency. Five of the factor-derived subscales showed good or excellent internal consistency. MusEQ scores were moderately correlated with a global rating of 'musicality' and with music education. There was strong agreement between self-report and informant-report data. MusEQ scores showed a significant positive relationship to independent ratings of music engagement. CONCLUSION: The MusEQ provides a meaningful and reliable option for measuring music engagement among participants who are unable to complete a self-report questionnaire.

Actigraphy for the assessment of sleep measures in Parkinson's disease.

OBJECTIVES: To assess the usefulness of actigraphy for assessment of nighttime sleep measures in patients with Parkinson's disease (PD). DESIGN: Participants underwent overnight sleep assessment simultaneously by polysomnography (PSG) and actigraphy. SETTING: Overnight sleep study in academic sleep research laboratory. PARTICIPANTS: Sixty-one patients (mean age 67.74 ± 8.88 y) with mild to moderate PD. MEASUREMENTS: Sleep measures including total sleep time (TST), sleep efficiency (SE), wake after sleep onset (WASO), and sleep onset latency (SOL) were calculated independently from data derived from PSG and from actigraphy. Different actigraphy scoring settings were compared. RESULTS: No single tested actigraphy scoring setting was optimal for all sleep measures. A customized setting of an activity threshold of 10, with five consecutive immobile minutes for sleep onset, yielded the combination of mean TST, SE, and WASO values that best approximated mean values determined by PSG with differences of 6.05 ± 85.67 min for TST, 1.1 ± 0.641% for SE, and 4.35 ± 59.56 min for WASO. There were significant but moderate correlations between actigraphy and PSG measurements (rs = 0.496, P < 0.001 for TST, rs = 0.384, P = 0.002 for SE, and rs = 0.400, P = 0.001 for WASO) using these settings. Greater disease stage was associated with greater differences between TST (R(2) = 0.099, beta = 0.315, P = 0.018), SE (R(2) = 0.107, beta = 0.327, P = 0.014), and WASO (R(2) = 0.094, beta = 0.307, P = 0.021) values derived by actigraphy and PSG explaining some of the variability. Using a setting of 10 immobile min for sleep onset yielded a mean SOL that was within 1 min of that estimated by PSG. However SOL values determined by actigraphy and PSG were not significantly correlated at any tested setting. CONCLUSIONS: Our results suggest that actigraphy may be useful for measurement of mean TST, SE, and WASO values in groups of patients with mild to moderate Parkinson's disease. However, there is a significant degree of variability in accuracy among individual patients. The importance of determining optimal scoring parameters for each population studied is underscored.