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

Mindfulness and cardiovascular health: Qualitative findings on mechanisms from the mindfulness-based blood pressure reduction (MB-BP) study.

BackgroundMindfulness-based programs hold promise for improving cardiovascular health (e.g. physical activity, diet, blood pressure). However, despite theoretical frameworks proposed, no studies have reported qualitative findings on how study participants themselves believe mindfulness-based programs improved their cardiovascular health. With an emphasis on in-depth, open-ended investigation, qualitative methods are well suited to explore the mechanisms underlying health outcomes. The objective of this qualitative study was to explore the mechanisms through which the mindfulness-based program, Mindfulness-Based Blood Pressure Reduction (MB-BP), may influence cardiovascular health.MethodsThis qualitative study was conducted as part of a Stage 1 single arm trial with one-year follow-up. The MB-BP curriculum was adapted from Mindfulness-Based Stress Reduction to direct participants' mindfulness skills towards modifiable determinants of blood pressure. Four focus group discussions were conducted (N = 19 participants), and seven additional participants were selected for in-depth interviews. Data analysis was conducted using the standard approach of thematic analysis. Following double-coding of audio-recorded transcripts, four members of the study team engaged in an iterative process of data analysis and interpretation.ResultsParticipants identified self-awareness, attention control, and emotion regulation as key mechanisms that led to improvements in cardiovascular health. Within these broader themes, many participants detailed a process beginning with increased self-awareness to sustain attention and regulate emotions. Many also explained that the specific relationship between self-awareness and emotion regulation enabled them to respond more skillfully to stressors. In a secondary sub-theme, participants suggested that higher self-awareness helped them engage in positive health behaviors (e.g. healthier dietary choices).ConclusionQualitative analyses suggest that MB-BP mindfulness practices allowed participants to engage more effectively in self-regulation skills and behaviors lowering cardiovascular disease risk, which supports recent theory. Results are consistent with quantitative mechanistic findings showing emotion regulation, perceived stress, interoceptive awareness, and attention control are influenced by MB-BP

Opioid Analgesics and Persistent Pain After an Acute Pain Emergency Department Visit: Evidence from a Cohort of Suspected Urolithiasis Patients

BackgroundSevere acute pain is still commonly treated with opioid analgesics in the United States, but this practice could prolong the duration of pain.ObjectivesEstimate the risk of experiencing persistent pain after opioid analgesic use after emergency department (ED) discharge among patients with suspected urolithiasis.MethodsWe analyzed data collected for a longitudinal, multicenter clinical trial of ED patients with suspected urolithiasis. We constructed multilevel models to estimate the odds ratios (ORs) of reporting pain at 3, 7, 30, or 90 days after ED discharge, using multiple imputation to account for missing outcome data. We controlled for clinical, demographic, and institutional factors and used weighting to account for the propensity to be prescribed an opioid analgesic at ED discharge.ResultsAmong 2413 adult ED patients with suspected urolithiasis, 62% reported persistent pain 3 days after discharge. Participants prescribed an opioid analgesic at discharge were OR 2.51 (95% confidence interval [CI] 1.82-3.46) more likely to report persistent pain than those without a prescription. Those who reported using opioid analgesics 3 days after discharge were OR 2.24 (95% CI 1.77-2.84) more likely to report pain at day 7 than those not using opioid analgesics at day 3, and those using opioid analgesics at day 30 had OR 3.25 (95% CI 1.96-5.40) greater odds of pain at day 90.ConclusionsOpioid analgesic prescription doubled the odds of persistent pain among ED patients with suspected urolithiasis. Limiting opioid analgesic prescribing at ED discharge for these patients might prevent persistent pain in addition to limiting access to these medications

Opioid Analgesic Use After an Acute Pain Visit: Evidence from a Urolithiasis Patient Cohort

Introduction: Urolithiasis causes severe acute pain and is commonly treated with opioid analgesics in the emergency department (ED). We examined opioid analgesic use after episodes of acute pain.  Methods: Using data from a longitudinal trial of ED patients with urolithiasis, we constructed multivariable models to estimate the adjusted probability of opioid analgesic use 3, 7, 30, and 90 days after ED discharge. We used multiple imputation to account for missing data and weighting to account for the propensity to be prescribed an opioid analgesic at ED discharge. We used weighted multivariable regression to compare longitudinal opioid analgesic use for those prescribed vs not prescribed an opioid analgesic at discharge, stratified by reported pain at ED discharge.  Results: Among 892 adult ED patients with urolithiasis, 79% were prescribed an opioid analgesic at ED discharge. Regardless of reporting pain at ED discharge, those who were prescribed an opioid analgesic were significantly more likely to report using it one, three, and seven days after the visit in weighted multivariable analysis. Among those who were not prescribed an opioid analgesic, an estimated 21% (not reporting pain at ED discharge) and 30% (reporting pain at discharge) reported opioid analgesic use at day three. Among those prescribed an opioid analgesic, 49% (no pain at discharge) and 52% (with pain at discharge) reported using an opioid analgesic at day three.  Conclusion: Urolithiasis patients who received an opioid analgesic at ED discharge were more likely to continue using an opioid analgesic than those who did not receive a prescription at the initial visit, despite the time-limited nature of urolithiasis

Variation in opioid analgesia administration and discharge prescribing for emergency department patients with suspected urolithiasis

ObjectivePrevious research has suggested caution about opioid analgesic usage in the emergency department (ED) setting and raised concerns about variations in prescription opioid analgesic usage, both across institutions and for whom they are prescribed. We examined opioid analgesic usage in ED patients with suspected urolithiasis across fifteen participating hospitals.MethodsThis is a secondary analysis of a clinical trial including adult ED patients with suspected urolithiasis. In multilevel models accounting for clustering by hospital, we assessed demographic, clinical, state-level, and hospital-level factors associated with opioid analgesic administration during the ED visit and prescription at discharge.ResultsOf 2352 participants, 67% received an opioid analgesic during the ED visit and 61% were prescribed one at discharge. Opioid analgesic usage varied greatly across hospitals, ranging from 46% to 88% (during visit) and 34% to 85% (at discharge). Hispanic patients were less likely than non-Hispanic white patients to receive opioid analgesics during the ED visit (OR 0.72, 95% CI 0.55-0.94). Patients with higher education (OR 1.29, 95% CI 1.05-1.59), health insurance coverage (OR 1.27, 95% CI 1.02-1.60), or receiving care in states with a prescription drug monitoring program (OR 1.64, 95% CI 1.06-2.53) were more likely to receive an opioid analgesic prescription at ED discharge.ConclusionWe found marked hospital-level differences in opioid analgesic administration and prescribing, as well as associations with education, healthcare insurance, and race/ethnicity groups. These data might compel clinicians and hospitals to examine their opioid use practices to ensure it is congruent with accepted medical practice

Blood Donation, Sexual Practices, and Self-Perceived Risk for HIV in the United States Among Young Adult Men Who Have Sex With Men

OBJECTIVES: In the United States, all men who have sex with men (MSM) were banned from donating blood from 1985 through 2015. In 2016, the guideline was amended such that men who had sexual contact with other men within the previous 12 months could not donate blood. We aimed to identify blood donation practices and their relationship with HIV risk and testing among young adult MSM (YMSM) at risk for having HIV. METHODS: In 2014, we recruited HIV-negative non-Hispanic black, Hispanic, and non-Hispanic white YMSM aged 18-24 from across the United States through social media platforms to complete an online survey. Among these YMSM who previously donated blood, we conducted a secondary analysis examining the relationship between having donated blood within the past 12 months and sexual risk behavior from recent condomless anal intercourse (CAI), HIV testing, and self-perceived risk of having an undiagnosed HIV infection. RESULTS: Of the 2261 YMSM surveyed, 1104 (48.8%) had ever previously donated blood and 305 (13.5%) had donated blood within the past 12 months. Of the 305 blood donors, 50 (16.4%) had ever had CAI before their most recent blood donation. Among YMSM who donated blood, past-12-month blood donation was more likely among YMSM who never had CAI (adjusted odds ratio [aOR] = 1.84; 95% confidence interval [CI], 1.24-2.73) than among YMSM who had CAI and more likely among YMSM who believed it was not possible at all that they had an undiagnosed HIV infection (aOR = 1.57; 95% CI, 1.14-2.16) than among YMSM who believed there was any possibility of having an undiagnosed HIV infection; it was not related to past-12-month HIV testing. CONCLUSIONS: YMSM donated blood frequently, suggesting that the deferral process in place did not prevent YMSM from donating blood. The current donor screening process should be reconsidered if it is to prevent YMSM from donating blood. Future research could identify screening questions that permit YMSM with a low risk of HIV infection to donate blood while maintaining the safety of the blood supply