Omega-3 Long-Chain Polyunsaturated Fatty Acids Intake by Ethnicity, Income, and Education Level in the United States: NHANES 2003-201414.

Although there are many recognized health benefits for the consumption of omega-3 (n-3) long-chain polyunsaturated fatty acids (LCPUFA), intake in the United States remains below recommended amounts. This analysis was designed to provide an updated assessment of fish and n-3 LCPUFA intake (eicosapentaenoic (EPA), docosahexaenoic acid (DHA), and EPA+DHA) in the United States adult population, based on education, income, and race/ethnicity, using data from the 2003-2014 National Health and Nutrition Examination Survey (NHANES) (n = 44,585). Over this survey period, participants with less education and lower income had significantly lower n-3 LCPUFA intakes and fish intakes (p \u3c 0.001 for all between group comparisons). N-3 LCPUFA intake differed significantly according to ethnicity (p \u3c 0.001), with the highest intake of n-3 LCPUFA and fish in individuals in the Other category (including Asian Americans). Supplement use increased EPA + DHA intake, but only 7.4% of individuals consistently took supplements. Overall, n-3 LCPUFA intake in this study population was low, but our findings indicate that individuals with lower educational attainment and income are at even higher risk of lower n-3 LCPUFA and fish intake

Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.

BACKGROUND: Microphthalmia, anophthalmia, and coloboma (MAC) spectrum disease encompasses a group of eye malformations which play a role in childhood visual impairment. Although the predominant cause of eye malformations is known to be heritable in nature, with 80% of cases displaying loss-of-function mutations in the ocular developmental genes OTX2 or SOX2, the genetic abnormalities underlying the remaining cases of MAC are incompletely understood. This study intended to identify the novel genes and pathways required for early eye development. Additionally, pathways involved in eye formation during embryogenesis are also incompletely understood. This study aims to identify the novel genes and pathways required for early eye development through systematic forward screening of the mammalian genome. RESULTS: Query of the International Mouse Phenotyping Consortium (IMPC) database (data release 17.0, August 01, 2022) identified 74 unique knockout lines (genes) with genetically associated eye defects in mouse embryos. The vast majority of eye abnormalities were small or absent eyes, findings most relevant to MAC spectrum disease in humans. A literature search showed that 27 of the 74 lines had previously published knockout mouse models, of which only 15 had ocular defects identified in the original publications. These 12 previously published gene knockouts with no reported ocular abnormalities and the 47 unpublished knockouts with ocular abnormalities identified by the IMPC represent 59 genes not previously associated with early eye development in mice. Of these 59, we identified 19 genes with a reported human eye phenotype. Overall, mining of the IMPC data yielded 40 previously unimplicated genes linked to mammalian eye development. Bioinformatic analysis showed that several of the IMPC genes colocalized to several protein anabolic and pluripotency pathways in early eye development. Of note, our analysis suggests that the serine-glycine pathway producing glycine, a mitochondrial one-carbon donator to folate one-carbon metabolism (FOCM), is essential for eye formation. CONCLUSIONS: Using genome-wide phenotype screening of single-gene knockout mouse lines, STRING analysis, and bioinformatic methods, this study identified genes heretofore unassociated with MAC phenotypes providing models to research novel molecular and cellular mechanisms involved in eye development. These findings have the potential to hasten the diagnosis and treatment of this congenital blinding disease

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.

The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function.The full extent of the genetic basis for hearing impairment is unknown. Here, as part of the International Mouse Phenotyping Consortium, the authors perform a hearing loss screen in 3006 mouse knockout strains and identify 52 new candidate genes for genetic hearing loss

Hyperoxemia and excess oxygen use in early acute respiratory distress syndrome : Insights from the LUNG SAFE study

Publisher Copyright: © 2020 The Author(s). Copyright: Copyright 2020 Elsevier B.V., All rights reserved.Background: Concerns exist regarding the prevalence and impact of unnecessary oxygen use in patients with acute respiratory distress syndrome (ARDS). We examined this issue in patients with ARDS enrolled in the Large observational study to UNderstand the Global impact of Severe Acute respiratory FailurE (LUNG SAFE) study. Methods: In this secondary analysis of the LUNG SAFE study, we wished to determine the prevalence and the outcomes associated with hyperoxemia on day 1, sustained hyperoxemia, and excessive oxygen use in patients with early ARDS. Patients who fulfilled criteria of ARDS on day 1 and day 2 of acute hypoxemic respiratory failure were categorized based on the presence of hyperoxemia (PaO2 > 100 mmHg) on day 1, sustained (i.e., present on day 1 and day 2) hyperoxemia, or excessive oxygen use (FIO2 ≥ 0.60 during hyperoxemia). Results: Of 2005 patients that met the inclusion criteria, 131 (6.5%) were hypoxemic (PaO2 < 55 mmHg), 607 (30%) had hyperoxemia on day 1, and 250 (12%) had sustained hyperoxemia. Excess FIO2 use occurred in 400 (66%) out of 607 patients with hyperoxemia. Excess FIO2 use decreased from day 1 to day 2 of ARDS, with most hyperoxemic patients on day 2 receiving relatively low FIO2. Multivariate analyses found no independent relationship between day 1 hyperoxemia, sustained hyperoxemia, or excess FIO2 use and adverse clinical outcomes. Mortality was 42% in patients with excess FIO2 use, compared to 39% in a propensity-matched sample of normoxemic (PaO2 55-100 mmHg) patients (P = 0.47). Conclusions: Hyperoxemia and excess oxygen use are both prevalent in early ARDS but are most often non-sustained. No relationship was found between hyperoxemia or excessive oxygen use and patient outcome in this cohort. Trial registration: LUNG-SAFE is registered with ClinicalTrials.gov, NCT02010073publishersversionPeer reviewe

The James Webb Space Telescope Mission

Twenty-six years ago a small committee report, building on earlier studies, expounded a compelling and poetic vision for the future of astronomy, calling for an infrared-optimized space telescope with an aperture of at least $4m$. With the support of their governments in the US, Europe, and Canada, 20,000 people realized that vision as the $6.5m$ James Webb Space Telescope. A generation of astronomers will celebrate their accomplishments for the life of the mission, potentially as long as 20 years, and beyond. This report and the scientific discoveries that follow are extended thank-you notes to the 20,000 team members. The telescope is working perfectly, with much better image quality than expected. In this and accompanying papers, we give a brief history, describe the observatory, outline its objectives and current observing program, and discuss the inventions and people who made it possible. We cite detailed reports on the design and the measured performance on orbit.Comment: Accepted by PASP for the special issue on The James Webb Space Telescope Overview, 29 pages, 4 figure

Interventions outside the workplace for reducing sedentary behaviour in adults under 60 years of age

Background Adults spend a majority of their time outside the workplace being sedentary. Large amounts of sedentary behaviour increase the risk of type 2 diabetes, cardiovascular disease, and both all‐cause and cardiovascular disease mortality. Objectives Primary • To assess effects on sedentary time of non‐occupational interventions for reducing sedentary behaviour in adults under 60 years of age Secondary • To describe other health effects and adverse events or unintended consequences of these interventions • To determine whether specific components of interventions are associated with changes in sedentary behaviour • To identify if there are any differential effects of interventions based on health inequalities (e.g. age, sex, income, employment) Search methods We searched CENTRAL, MEDLINE, Embase, Cochrane Database of Systematic Reviews, CINAHL, PsycINFO, SportDiscus, and ClinicalTrials.gov on 14 April 2020. We checked references of included studies, conducted forward citation searching, and contacted authors in the field to identify additional studies. Selection criteria We included randomised controlled trials (RCTs) and cluster RCTs of interventions outside the workplace for community‐dwelling adults aged 18 to 59 years. We included studies only when the intervention had a specific aim or component to change sedentary behaviour. Data collection and analysis Two review authors independently screened titles/abstracts and full‐text articles for study eligibility. Two review authors independently extracted data and assessed risk of bias. We contacted trial authors for additional information or data when required. We examined the following primary outcomes: device‐measured sedentary time, self‐report sitting time, self‐report TV viewing time, and breaks in sedentary time. Main results We included 13 trials involving 1770 participants, all undertaken in high‐income countries. Ten were RCTs and three were cluster RCTs. The mean age of study participants ranged from 20 to 41 years. A majority of participants were female. All interventions were delivered at the individual level. Intervention components included personal monitoring devices, information or education, counselling, and prompts to reduce sedentary behaviour. We judged no study to be at low risk of bias across all domains. Seven studies were at high risk of bias for blinding of outcome assessment due to use of self‐report outcomes measures. Primary outcomes Interventions outside the workplace probably show little or no difference in device‐measured sedentary time in the short term (mean difference (MD) ‐8.36 min/d, 95% confidence interval (CI) ‐27.12 to 10.40; 4 studies; I² = 0%; moderate‐certainty evidence). We are uncertain whether interventions reduce device‐measured sedentary time in the medium term (MD ‐51.37 min/d, 95% CI ‐126.34 to 23.59; 3 studies; I² = 84%; very low‐certainty evidence) We are uncertain whether interventions outside the workplace reduce self‐report sitting time in the short term (MD ‐64.12 min/d, 95% CI ‐260.91 to 132.67; I² = 86%; very low‐certainty evidence). Interventions outside the workplace may show little or no difference in self‐report TV viewing time in the medium term (MD ‐12.45 min/d, 95% CI ‐50.40 to 25.49; 2 studies; I² = 86%; low‐certainty evidence) or in the long term (MD 0.30 min/d, 95% CI ‐0.63 to 1.23; 2 studies; I² = 0%; low‐certainty evidence). It was not possible to pool the five studies that reported breaks in sedentary time given the variation in definitions used. Secondary outcomes Interventions outside the workplace probably have little or no difference on body mass index in the medium term (MD ‐0.25 kg/m², 95% CI ‐0.48 to ‐0.01; 3 studies; I² = 0%; moderate‐certainty evidence). Interventions may have little or no difference in waist circumference in the medium term (MD ‐2.04 cm, 95% CI ‐9.06 to 4.98; 2 studies; I² = 65%; low‐certainty evidence). Interventions probably have little or no difference on glucose in the short term (MD ‐0.18 mmol/L, 95% CI ‐0.30 to ‐0.06; 2 studies; I² = 0%; moderate‐certainty evidence) and medium term (MD ‐0.08 mmol/L, 95% CI ‐0.21 to 0.05; 2 studies, I² = 0%; moderate‐certainty evidence) Interventions outside the workplace may have little or no difference in device‐measured MVPA in the short term (MD 1.99 min/d, 95% CI ‐4.27 to 8.25; 4 studies; I² = 23%; low‐certainty evidence). We are uncertain whether interventions improve device‐measured MVPA in the medium term (MD 6.59 min/d, 95% CI ‐7.35 to 20.53; 3 studies; I² = 70%; very low‐certainty evidence). We are uncertain whether interventions outside the workplace improve self‐reported light‐intensity PA in the short‐term (MD 156.32 min/d, 95% CI 34.34 to 278.31; 2 studies; I² = 79%; very low‐certainty evidence). Interventions may have little or no difference on step count in the short‐term (MD 226.90 steps/day, 95% CI ‐519.78 to 973.59; 3 studies; I² = 0%; low‐certainty evidence) No data on adverse events or symptoms were reported in the included studies. Authors' conclusions Interventions outside the workplace to reduce sedentary behaviour probably lead to little or no difference in device‐measured sedentary time in the short term, and we are uncertain if they reduce device‐measured sedentary time in the medium term. We are uncertain whether interventions outside the workplace reduce self‐reported sitting time in the short term. Interventions outside the workplace may result in little or no difference in self‐report TV viewing time in the medium or long term. The certainty of evidence is moderate to very low, mainly due to concerns about risk of bias, inconsistent findings, and imprecise results. Future studies should be of longer duration; should recruit participants from varying age, socioeconomic, or ethnic groups; and should gather quality of life, cost‐effectiveness, and adverse event data. We strongly recommend that standard methods of data preparation and analysis are adopted to allow comparison of the effects of interventions to reduce sedentary behaviour

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