Quality control of phenotypic forms data in the Type 1 Diabetes Genetics Consortium

Background When collecting phenotypic data in clinics across the globe, the Type 1 Diabetes Genetics Consortium (T1DGC) used several techniques that ensured consistency, completeness, and accuracy of the data

International federation of genomic medicine databases using GA4GH standards

We promote a shared vision and guide for how and when to federate genomic and health-related data sharing, enabling connections and insights across independent, secure databases. The GA4GH encourages a federated approach wherein data providers have the mandate and resources to share, but where data cannot move for legal or technical reasons. We recommend a federated approach to connect national genomics initiatives into a global network and precision medicine resource

Use of Vascular Assessments and Novel Biomarkers to Predict Cardiovascular Events in Type 2 Diabetes:The SUMMIT VIP Study

Cardiovascular disease (CVD) risk prediction represents an increasing clinical challenge in the treatment of diabetes. We used a panel of vascular imaging, functional assessments, and biomarkers reflecting different disease mechanisms to identify clinically useful markers of risk for cardiovascular (CV) events in subjects with type 2 diabetes (T2D) with or without manifest CVD

Aurora kinases are expressed in medullary thyroid carcinoma (MTC) and their inhibition suppresses in vitro growth and tumorigenicity of the MTC derived cell line TT

International audienceBACKGROUND: The Aurora kinase family members, Aurora-A, -B and -C, are involved in the regulation of mitosis, and alterations in their expression are associated with cell malignant transformation. To date no information on the expression of these proteins in medullary thyroid carcinoma (MTC) are available. We here investigated the expression of the Aurora kinases in human MTC tissues and their potential use as therapeutic targets. METHODS: The expression of the Aurora kinases in 26 MTC tissues at different TNM stages was analyzed at the mRNA level by quantitative RT-PCR. We then evaluated the effects of the Aurora kinase inhibitor MK-0457 on the MTC derived TT cell line proliferation, apoptosis, soft agar colony formation, cell cycle and ploidy. RESULTS: The results showed the absence of correlation between tumor tissue levels of any Aurora kinase and tumor stage indicating the lack of prognostic value for these proteins. Treatment with MK-0457 inhibited TT cell proliferation in a time- and dose-dependent manner with IC50 = 49.8 ± 6.6 nM, as well as Aurora kinases phosphorylation of substrates relevant to the mitotic progression. Time-lapse experiments demonstrated that MK-0457-treated cells entered mitosis but were unable to complete it. Cytofluorimetric analysis confirmed that MK-0457 induced accumulation of cells with ≥ 4N DNA content without inducing apoptosis. Finally, MK-0457 prevented the capability of the TT cells to form colonies in soft agar. CONCLUSIONS: We demonstrate that Aurora kinases inhibition hampered growth and tumorigenicity of TT cells, suggesting its potential therapeutic value for MTC treatment

GA4GH: International policies and standards for data sharing across genomic research and healthcare.

The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits

Increasing frailty is associated with higher prevalence and reduced recognition of delirium in older hospitalised inpatients: results of a multi-centre study

Purpose: Delirium is a neuropsychiatric disorder delineated by an acute change in cognition, attention, and consciousness. It is common, particularly in older adults, but poorly recognised. Frailty is the accumulation of deficits conferring an increased risk of adverse outcomes. We set out to determine how severity of frailty, as measured using the CFS, affected delirium rates, and recognition in hospitalised older people in the United Kingdom. Methods: Adults over 65 years were included in an observational multi-centre audit across UK hospitals, two prospective rounds, and one retrospective note review. Clinical Frailty Scale (CFS), delirium status, and 30-day outcomes were recorded. Results: The overall prevalence of delirium was 16.3% (483). Patients with delirium were more frail than patients without delirium (median CFS 6 vs 4). The risk of delirium was greater with increasing frailty [OR 2.9 (1.8–4.6) in CFS 4 vs 1–3; OR 12.4 (6.2–24.5) in CFS 8 vs 1–3]. Higher CFS was associated with reduced recognition of delirium (OR of 0.7 (0.3–1.9) in CFS 4 compared to 0.2 (0.1–0.7) in CFS 8). These risks were both independent of age and dementia. Conclusion: We have demonstrated an incremental increase in risk of delirium with increasing frailty. This has important clinical implications, suggesting that frailty may provide a more nuanced measure of vulnerability to delirium and poor outcomes. However, the most frail patients are least likely to have their delirium diagnosed and there is a significant lack of research into the underlying pathophysiology of both of these common geriatric syndromes

Stable Isotope Analysis of the Contribution of Microalgal Diets to the Growth and Survival of Pacific Oyster Crassostrea gigas (Thunberg, 1979) Larvae

Stable carbon and nitrogen isotope analyses were used to evaluate the influence of microalgal diet on growth and survival of hatchery-reared Pacific oysterCrassostrea gigas larvae.D-veliger larvae were fedmonospecific diets of Pavlova lutheri (P), Tahitian Isochrysis aff. galbana (T), and Chaetoceros calcitrans (C), and a standard hatchery trispecific diet of 25P:25T:50C (PTC). The dietary effects on nutrient assimilation, isotopic turnover rates, and discrimination factors were assessed using exponential models. Of the four dietary treatments evaluated over the 15-day feeding trial, larvae fed C. calcitrans and PTC had the best growth and high survival. Larvae in all dietary treatments had relatively high isotopic turnover rates (0.075–0.327/day), although some discrimination factors found in this study were out of the normal range for aquatic invertebrates (Δ13C: 0.4‰–4.1‰ and δ15N: 0.1‰–5.3‰). Overall, the turnover rates and discrimination factors for δ13C and δ15N indicated that C. gigas larvae assimilate C. calcitrans and PTC best under hatchery rearing conditions. The results demonstrated the application potential of stable isotope analysis to evaluate optimal diets and feeding regimes to enhance hatchery performance of bivalve larvae and postlarval stages.© 2016, BioOne

Evaluating engagement to address undergraduate first year transition: A case study

Rapidly changing demands from employers of students of business meant substantial redesign of the first year undergraduate experience whose underlying pedagogy drew on the concept of "high-engagement" learning. This paper focuses on the question of how engagement can be evaluated. It is argued that a variety of "sensors" are needed for evaluation, both quantitative and qualitative. Of particular interest is the use of Moodle logs as an emerging powerful sensor

Our way of being: Infant and Early Childhood Mental Health Workforce Development in Tennessee

The optimal relational experiences of infants and young children demand a cross-sector workforce informed by Infant and Early Childhood Mental Health (IECMH) principles and practices. A recent review by the Alliance for the Advancement of Infant Mental Health, Inc identified seven themes that help define “What makes an IECMH association strong?”: (1) Identity, (2) Cross-Systems Collaborations, (3) Sound Organizational Structure, (4) Competency-Informed Training, (5) Reflective Supervision Capacity, (6) Policy, and (7) Higher Education. The present paper documents the story of the Association of Infant Mental Health in Tennessee (AIMHiTN) and the role of the Endorsement for Culturally Sensitive, Relationship-Focused Practice Promoting IECMH in that growth across those seven themes with the additional themes of (8) Funding and, (9) Diversity, Equity, Inclusion, and Belonging. First, foundational literature is reviewed to summarize IECMH-informed workforce development. Next, AIMHiTN\u27s story of workforce development is mapped onto the nine themes and challenges and lessons learned are summarized. The article aims to serve as a roadmap for other states, provinces, territories, or nations hoping to develop their own Association for Infant Mental Health (AIMH) as well as a guide for those with existing AIMHs for promoting continued growth and sustainability