The Role of Alexithymia in Memory and Executive Functioning Across the Lifespan

Alexithymia is a personality trait characterised by difficulties identifying feelings (DIF), describing feelings (DDF), and externally oriented thinking (EOT). Alexithymia has been associated with poorer memory, at least for emotive materials, and recently, with executive and neural dysfunction. Aging is also accompanied by poorer memory and executive functioning (EF), neural dysfunction, and increasing alexithymia. Thus, the hypothesis of a general cognitive impairment in alexithymia, particularly in elders, needs investigation. Three large, independent, cross-sectional experiments (n = 296, 139 and 121, respectively) investigated memory and EF in healthy adults, ranging from young to old adulthood, with age, sex, and the three Toronto Alexithymia Scale-20 subscales (DIF, DDF, EOT) as predictors in hierarchical regressions. Across studies, alexithymia contributed to poorer memory (via EOT) and EF (via DIF), in younger and older adults. Additionally, these effects occurred in non-emotive contexts with neutral stimuli. Moreover, although memory was worse with greater age and poor EF contributed to poor memory, those who had both high EOT and poor EF had particularly poor memory. Thus, alexithymia (particularly via high DIF or high EOT) is a risk factor for age-related cognitive decline. Further research should clarify the direction and nature of these complex relationships

Evaluating Impacts of Anthropogenic Disturbance to Wetland Water Quality Functions

Wetland ecosystems play fundamental roles in regulating our freshwater resources, yet they are not comprehensively protected from degradation and loss. West Virginia, USA has wetlands across diverse landscapes and geography that feed into both the Chesapeake Bay and Gulf of Mexico. The state is also comprised of diverse anthropogenic land-use practices. We are assessing 200 wetlands over 2 years to evaluate how anthropogenic disturbance impact wetland water quality functions. Select water quality parameters (20), and relative diversity and abundance of vegetation and macroinvertebrates will be used as bioindicators. They will be compared with GIS assessments of watershed land cover/ land-use practices and climate data to evaluate relationships and determine how they impact a wetland’s ability to carry out select water quality functions. Preliminary results after one year of sampling indicate that wetlands at higher elevation with fewer watershed land-use practices generally had lower E. Coli, heavy metal (Lead and Zinc), and nutrient (Phosphorus and Nitrogen) concentrations relative to wetlands at lower elevations with greater watershed land-use practices. Seasonal conductivity readings increased following precipitation events. Conductivity and salinity readings also decreased along its drainage gradient, indicative of the wetland performing its water quality functions. We also observed that conductivity and nutrient concentrations were highest during the winter and lowest during the summer, coinciding with the bottom and peak periods of primary productivity. The results of this project will be used to develop wetland water quality standards for West Virginia and help advance more comprehensive wetland regulations

A rockfall-induced glacial lake outburst flood, Upper Barun Valley, Nepal

On April 20, 2017, a flood from the Barun River, Makalu-Barun National Park, eastern Nepal formed a 2&ndash;3-km-long lake at its confluence with the Arun River as a result of blockage by debris. Although the lake drained spontaneously the next day, it caused nationwide concern and triggered emergency responses. We identified the primary flood trigger as a massive rockfall from the northwest face of Saldim Peak (6388&nbsp;m) which fell approximately 570&nbsp;m down to the unnamed glacier above Langmale glacial lake, causing a massive dust cloud and hurricane-force winds. The impact also precipitated an avalanche, carrying blocks of rock and ice up to 5&nbsp;m in diameter that plummeted a further 630&nbsp;m down into Langmale glacial lake, triggering a glacial lake outburst flood (GLOF). The flood carved steep canyons, scoured the river&rsquo;s riparian zone free of vegetation, and deposited sediment, debris, and boulders throughout much of the river channel from the settlement of Langmale to the settlement of Yangle Kharka about 6.5&nbsp;km downstream. Peak discharge was estimated at 4400&thinsp;&plusmn;&thinsp;1800&nbsp;m3&nbsp;s&minus;1, and total flood volume was estimated at 1.3&thinsp;&times;&thinsp;106&nbsp;m3 of water. This study highlights the importance of conducting integrated field studies of recent catastrophic events as soon as possible after they occur, in order to best understand the complexity of their triggering mechanisms, resultant impacts, and risk reduction management options. </div

Neonatal face-to-face interactions promote later social behaviour in infant rhesus monkeys

In primates, including humans, mothers engage in face-to-face interactions with their infants, with frequencies varying both within and across species. However, the impact of this variation in face-to-face interactions on infant social development is unclear. Here we report that infant monkeys (Macaca mulatta) who engaged in more neonatal face-to-face interactions with mothers have increased social interactions at 2 and 5 months. In a controlled experiment, we show that this effect is not due to physical contact alone: monkeys randomly assigned to receive additional neonatal face-to-face interactions (mutual gaze and intermittent lip-smacking) with human caregivers display increased social interest at 2 months, compared with monkeys who received only additional handling. These studies suggest that face-to-face interactions from birth promote young primate social interest and competenc

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.

SLC1A4 is a trimeric neutral amino acid transporter essential for shuttling L-serine from astrocytes into neurons. Individuals with biallelic variants in SLC1A4 are known to have spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) syndrome, but individuals with heterozygous variants are not thought to have disease. We identify an 8-year-old patient with global developmental delay, spasticity, epilepsy, and microcephaly who has a de novo heterozygous three amino acid duplication in SLC1A4 (L86_M88dup). We demonstrate that L86_M88dup causes a dominant-negative N-glycosylation defect of SLC1A4, which in turn reduces the plasma membrane localization of SLC1A4 and the transport rate of SLC1A4 for L-serine

Colorectal Adenomas in a Randomized Folate Trial: The Role of Baseline Dietary and Circulating Folate Levels

The Aspirin/Folate Polyp Prevention Study is a randomized, placebo-controlled trial of aspirin use and folic acid supplementation and incidence of colorectal adenomas in individuals with a history of these lesions. The trial showed that folic acid supplementation does not prevent the occurrence of new adenomas and may increase risk. We extend these results by investigating whether the effect of folic acid treatment differed by baseline dietary and circulating folate levels. Diet and supplement use were ascertained at baseline through a food-frequency questionnaire; a blood sample was used to determine plasma and red blood cell (RBC) folate levels. Individuals were followed for 3 years (1st follow up) and subsequently for an additional 3-5 years (2nd follow up). We used generalized linear regression to estimate risk ratios and 95% confidence limits as measures of association. There was little evidence that baseline dietary and total folate intake, and plasma and RBC folate modified the association between folic acid treatment and risk of any adenomas or advanced lesions. However, there was a protective association of the highest tertile of dietary and total intake as well as circulating folate with risk of any adenomas among those in the placebo group, but no association among individuals in the folic acid group. Our findings support the idea that while moderate doses of folate may be protective compared to deficiency, at some point of sufficiency supplementation provides no additional benefit

Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas

This integrated, multiplatform PanCancer Atlas study co-mapped and identified distinguishing molecular features of squamous cell carcinomas (SCCs) from five sites associated with smokin

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine

Comprehensive and Integrated Genomic Characterization of Adult Soft Tissue Sarcomas

Sarcomas are a broad family of mesenchymal malignancies exhibiting remarkable histologic diversity. We describe the multi-platform molecular landscape of 206 adult soft tissue sarcomas representing 6 major types. Along with novel insights into the biology of individual sarcoma types, we report three overarching findings: (1) unlike most epithelial malignancies, these sarcomas (excepting synovial sarcoma) are characterized predominantly by copy-number changes, with low mutational loads and only a few genes (, , ) highly recurrently mutated across sarcoma types; (2) within sarcoma types, genomic and regulomic diversity of driver pathways defines molecular subtypes associated with patient outcome; and (3) the immune microenvironment, inferred from DNA methylation and mRNA profiles, associates with outcome and may inform clinical trials of immune checkpoint inhibitors. Overall, this large-scale analysis reveals previously unappreciated sarcoma-type-specific changes in copy number, methylation, RNA, and protein, providing insights into refining sarcoma therapy and relationships to other cancer types