A program for real-time surveillance of SARS-CoV-2 genetics.

The COVID-19 pandemic brought forth an urgent need for widespread genomic surveillance for rapid detection and monitoring of emerging SARS-CoV-2 variants. It necessitated design, development, and deployment of a nationwide infrastructure designed for sequestration, consolidation, and characterization of patient samples that disseminates de-identified information to public authorities in tight turnaround times. Here, we describe our development of such an infrastructure, which sequenced 594,832 high coverage SARS-CoV-2 genomes from isolates we collected in the United States (U.

Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies.

Myeloid neoplasms represent a broad spectrum of hematological disorders for which somatic mutation status in key driver genes is important for diagnosis, prognosis and treatment. Here we summarize the findings of a targeted, next generation sequencing laboratory developed test in 24,639 clinical myeloid samples. Data were analyzed comprehensively and as part of individual cohorts specific to acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), and myeloproliferative neoplasms (MPN).

Immunohistochemical Characterization of a Large Cohort of Triple Negative Breast Cancer.

Triple negative breast carcinomas are characterized by a lack of hormone receptor and HER2 expression and inconsistent expression of breast-specific immunohistochemical markers. The expression of many site-specific markers in these tumors is largely unknown. The objective of the study was to examine the expression of widely used immunohistochemical markers on a large cohort of triple negative breast cancer.

Emphasizing appeal over health promotes preference for nutritious foods in people of low socioeconomic status.

People of low socioeconomic status (SES) have disproportionately poorer dietary health despite efforts to improve access and highlight the health benefits of nutritious foods. While health-focused labels and advertisements make healthier options easier to recognize, they can prime a number of negative associations about healthy foods (e.g.

Mindset is associated with future physical activity and management strategies in individuals with knee osteoarthritis.

Background: Despite the benefits of physical activity for individuals with knee osteoarthritis (KOA), physical activity levels are low in this population.

Objectives: We conducted a repeated cross-sectional study to compare mindset about physical activity among individuals with and without KOA and to investigate whether mindset relates to physical activity.

Methods: Participants with (n = 150) and without (n = 152) KOA completed an online survey at enrollment (T1).

Can Exercising and Eating Healthy Be Fun and Indulgent Instead of Boring and Depriving? Targeting Mindsets About the Process of Engaging in Healthy Behaviors.

This paper investigates mindsets about the process of health behaviors-the extent to which people associate physical activity and healthy eating with appealing (pleasurable, fun, indulgent) versus unappealing (unpleasant, boring, depriving) qualities-to promote greater engagement. Study 1 ( = 536) examined how mindsets about physical activity and healthy eating relate to current and future health behavior. Study 2 ( = 149) intervened in actual fitness classes to compare the effects of brief appeal-focused and health-focused interventions on mindsets about physical activity and class engagement.

Clinical outcomes and prognostic biomarkers among pregnant, post-partum and nulliparous women with breast cancer: a prospective cohort study.

Purpose: To compare clinical-pathologic characteristics and outcomes of pregnancy-associated, post-partum (PP) and nulliparous (NP) breast cancer (BC) patients and explore mediators of the poor prognosis associated with post-partum BC.

Methods: A prospective database of 233 women ≤ 40 years of age diagnosed with BC between February 2008 and January 2015 was analysed. Clinical-pathologic characteristics and outcomes among pregnant, PP and NP patients were compared using chi-square or Kruskal-Wallis tests.

Learning one's genetic risk changes physiology independent of actual genetic risk.

Millions of people now access personal genetic risk estimates for diseases such as Alzheimer's, cancer and obesity. While this information can be informative, research on placebo and nocebo effects suggests that learning of one's genetic risk may evoke physiological changes consistent with the expected risk profile. Here we tested whether merely learning of one's genetic risk for disease alters one's actual risk by making people more likely to exhibit the expected changes in gene-related physiology, behaviour and subjective experience.

Americans' Health Mindsets: Content, Cultural Patterning, and Associations With Physical and Mental Health.

Background: Health mindsets are mental frameworks that help people recognize, organize, interpret, and respond to health-relevant information. Although mindsets shape health behaviors and outcomes, no study has examined the health mindsets of ethnically and socioeconomically diverse Americans.

Purpose: We explored the content, cultural patterning, and health correlates of diverse Americans' health mindsets.

Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.

Background: Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad spectrum of syndromic and nonsyndromic forms of cancer. This study reports our experience with a 27-gene inherited cancer panel on a cohort of 630 consecutive individuals referred for testing at our laboratory with the following objectives: 1. Determine the rates for positive cases and those with variants of uncertain clinical significance (VUS) relative to data published in the recent literature, 2.

Integrated Phenotypic/Genotypic Analysis of Papillary Renal Cell Carcinoma Subtypes: Identification of Prognostic Markers, Cancer-related Pathways, and Implications for Therapy.

Background: Two histologic subtypes are recognized for papillary renal cell carcinoma (PRCC). Studies have shown that the subtypes differ in characteristic genetic alterations and clinical behavior. Clinically, the subtypes are managed similarly.

A prenatal diagnosis of mosaic trisomy 5 reveals a postnatal complete uniparental disomy of chromosome 5 with multiple congenital anomalies.

Mosaic trisomy 5 is a very rare condition in liveborns, with few cases reported in the last four decades. There are some reports of prenatally diagnosed mosaic trisomy 5 resulting in phenotypically normal offspring, suggesting a low level of mosaicism, but there are also reports associated with multiple congenital anomalies, cardiovascular malformations, and intrauterine growth restriction. We report an infant male diagnosed with mosaic trisomy 5 (5/15 cells) via amniocentesis.

Association Between Indulgent Descriptions and Vegetable Consumption: Twisted Carrots and Dynamite Beets.

This observational study examines the association of labeling vegetables with indulgent descriptions and overall vegetable consumption compared with labeling vegetables with basic or health-focused labels.

The face is the thing: Faces, not emotions, are responsible for chimeric perceptual asymmetry.

We used factor analysis to examine relationships among tasks that have previously shown right hemispheric processing asymmetries. We were interested in whether processing emotion displayed by a face constitutes a distinct perceptual process from processing other facial characteristics. Interest in this topic arose after Boles [ 1991 .

Mosaic trisomy 15 in a liveborn infant.

With only a small number of cases in the medical literature, mosaic trisomy 15 in liveborn infants is very rare. Despite its rarity, similar features among individuals have been described, including intrauterine growth retardation, craniofacial abnormalities and facial dysmorphisms, cardiac disease, and other organ anomalies. Very few liveborns have survived the first year of life.

Integrative bioinformatics analysis reveals new prognostic biomarkers of clear cell renal cell carcinoma.

Background: The outcome of clear cell renal cell carcinoma (ccRCC) is still unpredictable. Even with new targeted therapies, the average progression-free survival is dismal. Markers for early detection and progression could improve disease outcome.

Viewing the workload of vigilance through the lenses of the NASA-TLX and the MRQ.

Objective: The aim of this study was to compare the effectiveness of a new index of perceived mental workload, the Multiple Resource Questionnaire (MRQ), with the standard measure of workload used in the study of vigilance, the NASA Task Load Index (NASA-TLX).

Background: The NASA-TLX has been used extensively to demonstrate that vigilance tasks impose a high level of workload on observers. However, this instrument does not specify the information-processing resources needed for task performance.

MicroRNA signature helps distinguish early from late biochemical failure in prostate cancer.

Purpose: Prostate-specific antigen testing has led to overtreatment of prostate cancer (PCa). Only a small subset of PCa patients will have an aggressive disease that requires intensive therapy, and there is currently no biomarker to predict disease aggressiveness at the time of surgery. MicroRNAs (miRNAs) are reported to be involved in PCa pathogenesis.

Preschool child and adult lateralisation and performance in emotion and language tasks.

A total of 34 undergraduate students from the University of Alabama and 34 preschool children completed measures assessing lateralisation and competency in emotion and language processing in order to examine the developmental time course of the underlying lateralised processes. Results indicate different developmental time courses for lateralisation in dichotic words and chimeric faces tasks, and provide some support for the developmental models of Boles, Barth, and Merrill (2008) concerning the relationship between lateralisation and performance.

Evaluation of a digital microfluidic real-time PCR platform to detect DNA of Candida albicans in blood.

Species of Candida frequently cause life-threatening infections in neonates, transplant and intensive care unit (ICU) patients, and others with compromised host defenses. The successful management of systemic candidiasis depends upon early, rapid diagnosis. Blood cultures are the standard diagnostic method, but identification requires days and less than half of the patients are positive.

Laterality and sex differences in tactile detection and two-point thresholds modified by body surface area and body fat ratio.

Tactile detection and two-point discrimination tests are commonly used in neurological examinations. However, questions remain about the influence of both body and patient characteristics on test thresholds. The left side of the body has sometimes been reported more tactilely sensitive than the right, and females are said to be more sensitive than males.

Droplet-based pyrosequencing using digital microfluidics.

The feasibility of implementing pyrosequencing chemistry within droplets using electrowetting-based digital microfluidics is reported. An array of electrodes patterned on a printed-circuit board was used to control the formation, transportation, merging, mixing, and splitting of submicroliter-sized droplets contained within an oil-filled chamber. A three-enzyme pyrosequencing protocol was implemented in which individual droplets contained enzymes, deoxyribonucleotide triphosphates (dNTPs), and DNA templates.

Socioeconomic status, a forgotten variable in lateralization development.

Socioeconomic status (SES), a variable combining income, education, and occupation, is correlated with a variety of social health outcomes including school dropout rates, early parenthood, delinquency, and mental illness. Several studies conducted in the 1970s and 1980s largely failed to report a relationship between SES and hemispheric asymmetry as measured by lateral differences in dichotic listening, tactile dot enumeration, and visual emotion and word recognition. However, none of the studies used asymmetry measures correcting for both ceiling and floor effects in accuracy, raising the question of whether lower and higher SES groups were comparable.