Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Facilitating skill development using student-directed activities and personalized formative feedback

Objective: To describe the process and outcome measures of implementing student-directed activities and faculty formative feedback as methods to develop interviewing, assessment, SOAP note writing, patient presentation, and patient counseling skills. Methods: Student-directed activities and personalized formative feedback from faculty were implemented to facilitate skill development in first-year pharmacy students. These processes occurred in three steps in which students (1) obtained foundational knowledge through the completion of independent student-directed learning activities, (2) applied knowledge and development of skills through peer teaching activities and peer/self-assessment, and (3) received personalized formative feedback from faculty during verbal assessments. Outcome measures were determined by students\u27 performance in course evaluations and faculty/student survey data. Results: Overall, 70 students and six faculty completed the survey. Based on student survey data, 74% indicated that student-directed activities enhanced learning, 57% indicated that peer feedback facilitated their ability to write SOAP notes, 78% were confident in their interviewing skills in a community site, 76% were confident in their patient presentation skills to a community preceptor, 97% indicated they had developed adequate foundational skills for writing SOAP notes, and 100% valued receiving personalized faculty feedback. The entire faculty was fairly confident in the students\u27 interviewing skills. Conclusion: Student-directed activities facilitated the development of skills, which was augmented by peer feedback and self-assessment. Students perceived personalized faculty feedback as beneficial and recommended continuation of such feedback in future classes

The relationship between adipokines, body composition, and bone density in men with chronic obstructive pulmonary disease

Sheryl F Vondracek1, Norbert F Voelkel2, Michael T McDermott3, Connie Valdez11Department of Clinical Pharmacy; 3Department of Medicine, University of Colorado Denver, Aurora, CO, USA; 2Department of Internal Medicine and Victoria Johnson Center for Emphysema Research, Virginia Commonwealth University, Richmond, VA, USAAbstract: Osteoporosis is common in patients with chronic obstructive pulmonary disease (COPD). Data regarding the relationship between adipokines and bone mineral density (BMD) in this population is lacking. The purpose of this pilot study was to determine associations between the adipokines tumor necrosis factor-alpha (TNF-α), leptin, adiponectin and resistin, body composition, and BMD in men with severe COPD. This was a cross-sectional study of men with severe COPD who visited the University of Colorado Hospital COPD Center. Bone density and parameters of body composition were measured by dual-energy X-ray absorptiometry. Twenty-three men were included (mean age = 66 years, mean percent predicted forced expiratory volume in one second = 32%). On bivariate analysis, there was no association between TNF-α and BMD. Parameters of body composition and serum concentrations of leptin and adiponectin were significantly associated with total hip and spine bone density. However, with partial correlation analysis, total body mass was the only independent predictor of total hip BMD, explaining approximately 50% of the variability. Overall, 18 out of 23 men enrolled (78%) had low bone density by T-score, and nine (39%) were classified as having osteoporosis. The men with osteoporosis had lower parameters of body composition, lower mean serum leptin concentrations, and a greater impairment in measures of lung function compared to the men without osteoporosis. We conclude that the effect of adipokines on BMD does not appear to be independent of body mass. However, larger studies are needed to further evaluate the relationship between adipokines, body weight, and BMD in patients with COPD.Keywords: bone mineral density, osteoporosis, TNF-α, leptin, adiponectin, chronic obstructive pulmonary disease, adipokine

Impact of Initiating a GLP1 Agonist and/or SGLT2 Inhibitor Therapy on De-Escalation and Discontinuation of Insulin and Diabetes Control When Managed by an Interprofessional Collaborative Team

Background: An FQHC in Denver, Colorado developed and implemented an interprofessional care model to collaboratively manage type 2 diabetes mellitus (T2DM). Utilizing the 340B program, the team protocolized ADA Guidelines to promote the early adoption of first-line medications, glucagon-like peptide1 receptor agonists (GLP1 RAs) and sodium-glucose cotransporter 2 inhibitors (SGLT2is) to improve patient outcomes. Objectives: To assess the impact of interprofessional collaborative management versus standard care on early initiation of a SGLT2i and/or GLP1 RA as first-line therapies to enhance (1) deprescribing of insulin, (2) reducing overbasalization of insulin through insulin de-escalation, and (3) effectively lowering A1C levels in adult primary care patients with T2DM. Methods: This was a retrospective chart review of adult patients with T2DM who were initiated on a GLP1 RA and/or a SGLT2i. To determine the effects of initiating GLP1 RA and/or SGLT2i therapy on insulin usage and glycemic control, the total daily dose (TDD) of insulin before initiation was compared with the most recent TDD post-initiation to evaluate deprescribing. To determine the impact on overbasalization, pre-initiation and post-initiation insulin doses were evaluated. The effectiveness of GLP1 RA and/or SGLT2i in lowering A1C levels was determined by comparing the A1C prior to initiation with the A1C postinitiation. To evaluate the influence of interprofessional collaborative care on insulin deprescribing, overbasalization, and diabetes control, relevant measures were compared between patients receiving collaborative care versus standard care. Results: Of the 60 total patients treated with insulin, 46.6% were deprescribed insulin, with a majority in the interprofessional collaborative group (93.1%) compared to standard care (6.9%). A total of 78.3% of patients benefited from a reduction in A1C following the initiation of a GLP1 RA and/or SGLT2i. The greatest A1C reduction was −2.9% in the group receiving metformin in addition to a GLP1 RA and a SGLT2i. Patients who received interprofessional collaborative care had an average A1c reduction of −2.9% compared to—1.1% with standard care. Conclusion: Most patients initially overbasalized on insulin experienced a reduction in overbasalization after initiating GLP1 RA and/or SGLT2i. There was a notable A1C reduction, de-escalation, and deprescribing of insulin in patients receiving interprofessional collaborative care