Amyotrophic Lateral Sclerosis Association

Amyotrophic Lateral Sclerosis (ALS), also known as Lou Gehrig’s disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord, leading to muscular atrophy, progressive loss of muscle control, paralysis, and death. This is a review of the ALS Association web site. The site continues to provide ALS patients and caregivers with current resources for managing life with ALS, and it provides researchers and healthcare professionals with access to evidence-based information on the latest scholarship, and guidelines for the most effective therapies and treatments for ALS. The ALS Association website remains an authoritative resource for anyone seeking quality information about ALS

Focused Outreach Final Report: Vermont (May 1, 2013 - April 30, 2014)

The National Network of Libraries of Medicine, New England Region (NN/LM NER) seeks to further the mission of the NN/LM, while increasing use of National Library of Medicine (http://nlm.nih.gov) resources and services; and expanding collaboration with libraries through a Focused Health Information Outreach model. The mission of the National Network of Libraries of Medicine (NN/LM) is to advance the progress of medicine and improve the public health by providing all U.S. health professionals equal access to biomedical information and by improving the public\u27s access to information to enable them to make informed decisions about their health. The Focused Outreach Project connected underserved communities in Vermont with the resources and services of the National Library of Medicine. NER partnered with local libraries, public health agencies, school nurses, the state library, health education students, and community television. This year, the project transitioned to a train-the-trainer model. Project partners were identified following the Key Informant Interviews. NER staff worked with project partners to guide them through the project planning, proposal writing process, and initial NLM education. Project partners included: Vermont State Library Dana Medical Library Middlebury Community TV Vermont Agency of Education Castleton State College Heath Education Department Northeastern Vermont Regional Hospital Medical Library Vermont School Nurse Health Information Access Project Pre and post-evaluations showed that as a result of this project: 92 consumers learned about MedlinePlus 220 health information providers learned about MedlinePlus 325 visitors at exhibits/health fairs learned more about the National Library of Medicine Consumer post-evaluations showed that 79% reported that the trainings improved their ability to find information they could trust on the internetl: 64%were likely to use MedlinePlus in the future. Provider post-evaluations showed that 97% said the class improved their ability to find information they could trust on the internet; 100% were likely to use MedlinePlus in the future; and 62% were very likely to tell others about the NLM resources they learned

Focused Outreach Final Report: New Hampshire (May 1, 2014 - April 30, 2015)

The Focused Outreach Project connected underserved communities in New Hampshire with the resources and services of the National Network of Libraries of Medicine, New England Region (NN/LM NER) and the National Library of Medicine (NLM). NER identified project partners following key informant interviews. NER staff worked with project partners to guide them through the funding process, provided initial training on National Library of Medicine resources, and ensured the projects fulfilled goals and objectives as identified in their proposals. Project partners included: City of Nashua Division of Public Health and Community Services City of Nashua, Office of Emergency Management Concord Public Library New Hampshire Area Health Education Centers New Hampshire Community College Librarians and Nursing Educators New Hampshire Comprehensive Cancer Collaboration New Hampshire State Library NER conducted a state-wide membership drive. NER provided the New Hampshire State Library with membership packets to mail to libraries in New Hampshire that were not already NN/LM Network Members. As a result of the membership drive, 29 libraries joined the network. NER developed relationships with seven new project partners. Each project partner used their own evaluation methods. Several project partners shared the value of their experience partnering with NN/LM NER in their reports and publications: “These activities served to significantly increase awareness of the multitude of reliable NN/LM resources and tools available that can help guide the development of evidence-based strategies for those developing Health Plans, provide information for professionals about clinical trials, improve knowledge of how to conduct PubMed searches, refer patients and families to MedlinePlus, and learn about the PHPartners.org resources that will ultimately provide better outcomes for patients.” -Judy Proctor, New Hampshire Comprehensive Cancer Plan, Foundation for Healthy Communities, Final Report “Janet Eklund, administrator of library operations at New Hampshire State Library, says the most important outcome to emerge from the project is the education of librarians and their confidence providing consumer health information. “Now, of course, they’re not going to be providing medical advice, but they’re comfortable in using the resource so that they can help educate their patrons to use it themselves,” Eklund says. “I think an increase in comfort level, knowledge, and skill is an excellent outcome for a program like this.” – By Lea Radick, American Libraries Magazine, Nov/Dec 2015 “Our partnership with the National Network of Libraries of Medicine began before our Focused Outreach project through participation in an Extreme Weather Summit hosted by their team. At the summit they convinced my Office of the importance of partnering with libraries to promote health and emergency preparedness initiatives. With the support of NN/LM, we were successfully able to conduct an outreach project to promote preparedness to at-risk populations within our region with excellent technical assistance provided by our library.” - Justin Kates, Director of Emergency Management, City of Nashu

Genome-Wide Meta-Analysis Identifies Regions on 7p21 (AHR) and 15q24 (CYP1A2) As Determinants of Habitual Caffeine Consumption

We report the first genome-wide association study of habitual caffeine intake. We included 47,341 individuals of European descent based on five population-based studies within the United States. In a meta-analysis adjusted for age, sex, smoking, and eigenvectors of population variation, two loci achieved genome-wide significance: 7p21 (P = 2.4×10−19), near AHR, and 15q24 (P = 5.2×10−14), between CYP1A1 and CYP1A2. Both the AHR and CYP1A2 genes are biologically plausible candidates as CYP1A2 metabolizes caffeine and AHR regulates CYP1A2

Energetic particle influence on the Earth's atmosphere

This manuscript gives an up-to-date and comprehensive overview of the effects of energetic particle precipitation (EPP) onto the whole atmosphere, from the lower thermosphere/mesosphere through the stratosphere and troposphere, to the surface. The paper summarizes the different sources and energies of particles, principally galactic cosmic rays (GCRs), solar energetic particles (SEPs) and energetic electron precipitation (EEP). All the proposed mechanisms by which EPP can affect the atmosphere are discussed, including chemical changes in the upper atmosphere and lower thermosphere, chemistry-dynamics feedbacks, the global electric circuit and cloud formation. The role of energetic particles in Earth’s atmosphere is a multi-disciplinary problem that requires expertise from a range of scientific backgrounds. To assist with this synergy, summary tables are provided, which are intended to evaluate the level of current knowledge of the effects of energetic particles on processes in the entire atmosphere

Genetic mechanisms of critical illness in COVID-19.

Host-mediated lung inflammation is present1, and drives mortality2, in the critical illness caused by coronavirus disease 2019 (COVID-19). Host genetic variants associated with critical illness may identify mechanistic targets for therapeutic development3. Here we report the results of the GenOMICC (Genetics Of Mortality In Critical Care) genome-wide association study in 2,244 critically ill patients with COVID-19 from 208 UK intensive care units. We have identified and replicated the following new genome-wide significant associations: on chromosome 12q24.13 (rs10735079, P = 1.65 × 10-8) in a gene cluster that encodes antiviral restriction enzyme activators (OAS1, OAS2 and OAS3); on chromosome 19p13.2 (rs74956615, P = 2.3 × 10-8) near the gene that encodes tyrosine kinase 2 (TYK2); on chromosome 19p13.3 (rs2109069, P = 3.98 ×  10-12) within the gene that encodes dipeptidyl peptidase 9 (DPP9); and on chromosome 21q22.1 (rs2236757, P = 4.99 × 10-8) in the interferon receptor gene IFNAR2. We identified potential targets for repurposing of licensed medications: using Mendelian randomization, we found evidence that low expression of IFNAR2, or high expression of TYK2, are associated with life-threatening disease; and transcriptome-wide association in lung tissue revealed that high expression of the monocyte-macrophage chemotactic receptor CCR2 is associated with severe COVID-19. Our results identify robust genetic signals relating to key host antiviral defence mechanisms and mediators of inflammatory organ damage in COVID-19. Both mechanisms may be amenable to targeted treatment with existing drugs. However, large-scale randomized clinical trials will be essential before any change to clinical practice

Post-Franco Theatre

In the multiple realms and layers that comprise the contemporary Spanish theatrical landscape, “crisis” would seem to be the word that most often lingers in the air, as though it were a common mantra, ready to roll off the tongue of so many theatre professionals with such enormous ease, and even enthusiasm, that one is prompted to wonder whether it might indeed be a miracle that the contemporary technological revolution – coupled with perpetual quandaries concerning public and private funding for the arts – had not by now brought an end to the evolution of the oldest of live arts, or, at the very least, an end to drama as we know it

New genetic loci link adipose and insulin biology to body fat distribution.

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10(-8)). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms

Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

To investigate large structural clonal mosaicism of chromosome X, we analysed the SNP microarray intensity data of 38,303 women from cancer genome-wide association studies (20,878 cases and 17,425 controls) and detected 124 mosaic X events >2 Mb in 97 (0.25%) women. Here we show rates for X-chromosome mosaicism are four times higher than mean autosomal rates; X mosaic events more often include the entire chromosome and participants with X events more likely harbour autosomal mosaic events. X mosaicism frequency increases with age (0.11% in 50-year olds; 0.45% in 75-year olds), as reported for Y and autosomes. Methylation array analyses of 33 women with X mosaicism indicate events preferentially involve the inactive X chromosome. Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases