keyword
MENU ▼
Read by QxMD icon Read
search

eGenes

keyword
https://www.readbyqxmd.com/read/28079726/the-charter-on-professionalism-for-health-care-organizations
#1
Barry E Egener, Diana J Mason, Walter J McDonald, Sally Okun, Meg E Gaines, David A Fleming, Bernie M Rosof, David Gullen, May-Lynn Andresen
In 2002, the Physician Charter on Medical Professionalism was published to provide physicians with guidance for decision making in a rapidly changing environment. Feedback from physicians indicated that they were unable to fully live up to the principles in the 2002 charter partly because of their employing or affiliated health care organizations. A multistakeholder group has developed a Charter on Professionalism for Health Care Organizations, which may provide more guidance than charters for individual disciplines, given the current structure of health care delivery systems...
January 10, 2017: Academic Medicine: Journal of the Association of American Medical Colleges
https://www.readbyqxmd.com/read/28062664/mapping-eqtls-with-rna-seq-reveals-novel-susceptibility-genes-non-coding-rnas-and-alternative-splicing-events-in-systemic-lupus-erythematosus
#2
Christopher A Odhams, Andrea Cortini, Lingyan Chen, Amy L Roberts, Ana Viñuela, Alfonso Buil, Kerrin S Small, Emmanouil T Dermitzakis, David L Morris, Timothy J Vyse, Deborah S Cunninghame Graham
Studies attempting to functionally interpret complex-disease susceptibility loci by GWAS and eQTL integration have predominantly employed microarrays to quantify gene-expression. RNA-Seq has the potential to discover a more comprehensive set of eQTLs and illuminate the underlying molecular consequence. We examine the functional outcome of 39 variants associated with Systemic Lupus Erythematosus (SLE) through integration of GWAS and eQTL data from the TwinsUK microarray and RNA-Seq cohort in lymphoblastoid cell lines...
January 5, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28059881/people-with-spinal-cord-injury-in-germany
#3
Melanie Blumenthal, Veronika Geng, Christoph Egen, Christoph Gutenbrunner
No abstract text is available yet for this article.
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/28059877/rehabilitation-services-provision-and-payment
#4
Christoph Gutenbrunner, Melanie Blumenthal, Veronika Geng, Christoph Egen
Persons with spinal cord injury (SCI) experience disability and have significant need for rehabilitation. To deliver appropriate rehabilitation, interventions and programs suitable services must exist. A prerequisite for system improvement is a description of rehabilitation services. The aim of this paper was to develop a rehabilitation service framework for SCI. Additionally, principles and models of payment of rehabilitation services will be discussed. Health-related rehabilitation services should be available along the continuum of care and implemented at all levels of health care...
February 2017: American Journal of Physical Medicine & Rehabilitation
https://www.readbyqxmd.com/read/27854531/health-and-social-conditions-of-the-poorest-versus-wealthiest-counties-in-the-united-states
#5
Olivia Egen, Kate Beatty, David J Blackley, Katie Brown, Randy Wykoff
OBJECTIVES: To more clearly articulate, and more graphically demonstrate, the impact of poverty on various health outcomes and social conditions by comparing the poorest counties to the richest counties in the United States and to other countries in the world. METHODS: We used 5-year averages for median household income to form the 3141 US counties into 50 new "states"-each representing 2% of the counties in the United States (62 or 63 counties each). We compared the poorest and wealthiest "states...
January 2017: American Journal of Public Health
https://www.readbyqxmd.com/read/27797919/%C3%AE-e%C3%AE-7-integrin-identifies-subsets-of-pro-inflammatory-colonic-cd4-t-lymphocytes-in-ulcerative-colitis
#6
Christopher A Lamb, John C Mansfield, Gaik W Tew, Deena Gibbons, Anna K Long, Peter Irving, Lauri Diehl, Jeff Eastham-Anderson, Maria B Price, Graeme O'Boyle, David E J Jones, Sharon O'Byrne, Adrian Hayday, Mary E Keir, Jackson G Egen, John A Kirby
BACKGROUND AND AIMS: The αEβ7 integrin is crucial for retention of T lymphocytes at mucosal surfaces through its interaction with E-cadherin. Pathogenic or protective functions of these cells during human intestinal inflammation, such as ulcerative colitis [UC], have not previously been defined, with understanding largely derived from animal model data. Defining this phenotype in human samples is important for understanding UC pathogenesis and is of translational importance for therapeutic targeting of αEβ7-E-cadherin interactions...
October 20, 2016: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/27618120/early-workplace-intervention-to-improve-the-work-ability-of-employees-with-musculoskeletal-disorders-in-a-german-university-hospital-results-of-a-pilot-study
#7
Monika Schwarze, Christoph Egen, Christoph Gutenbrunner, Stephanie Schriek
Health promotion is becoming increasingly important in work life. Healthcare workers seem to be at special risk, experiencing musculoskeletal disorders (MSD); their situation is strongly influenced by demographic changes. The aim of this study is to evaluate the feasibility and outcome of a worksite intervention. In a one-group pretest-posttest design, 118 employees of a hospital were recruited from 2010 to 2011. The raised parameters were satisfaction with the program, work ability (Work Ability Index), and sickness absence (provided by human resource management)...
September 7, 2016: Healthcare (Basel, Switzerland)
https://www.readbyqxmd.com/read/27307612/using-genomic-annotations-increases-statistical-power-to-detect-egenes
#8
Dat Duong, Jennifer Zou, Farhad Hormozdiari, Jae Hoon Sul, Jason Ernst, Buhm Han, Eleazar Eskin
MOTIVATION: Expression quantitative trait loci (eQTLs) are genetic variants that affect gene expression. In eQTL studies, one important task is to find eGenes or genes whose expressions are associated with at least one eQTL. The standard statistical method to determine whether a gene is an eGene requires association testing at all nearby variants and the permutation test to correct for multiple testing. The standard method however does not consider genomic annotation of the variants. In practice, variants near gene transcription start sites (TSSs) or certain histone modifications are likely to regulate gene expression...
June 15, 2016: Bioinformatics
https://www.readbyqxmd.com/read/27193597/mapping-adipose-and-muscle-tissue-expression-quantitative-trait-loci-in-african-americans-to-identify-genes-for-type-2-diabetes-and-obesity
#9
Satria P Sajuthi, Neeraj K Sharma, Jeff W Chou, Nicholette D Palmer, David R McWilliams, John Beal, Mary E Comeau, Lijun Ma, Jorge Calles-Escandon, Jamehl Demons, Samantha Rogers, Kristina Cherry, Lata Menon, Ethel Kouba, Donna Davis, Marcie Burris, Sara J Byerly, Maggie C Y Ng, Nisa M Maruthur, Sanjay R Patel, Lawrence F Bielak, Leslie A Lange, Xiuqing Guo, Michèle M Sale, Kei Hang K Chan, Keri L Monda, Gary K Chen, Kira Taylor, Cameron Palmer, Todd L Edwards, Kari E North, Christopher A Haiman, Donald W Bowden, Barry I Freedman, Carl D Langefeld, Swapan K Das
Relative to European Americans, type 2 diabetes (T2D) is more prevalent in African Americans (AAs). Genetic variation may modulate transcript abundance in insulin-responsive tissues and contribute to risk; yet, published studies identifying expression quantitative trait loci (eQTLs) in African ancestry populations are restricted to blood cells. This study aims to develop a map of genetically regulated transcripts expressed in tissues important for glucose homeostasis in AAs, critical for identifying the genetic etiology of T2D and related traits...
August 2016: Human Genetics
https://www.readbyqxmd.com/read/27056113/the-performance-of-the-upper-limb-scores-correlate-with-pulmonary-function-test-measures-and-egen-klassifikation-scores-in-duchenne-muscular-dystrophy
#10
COMPARATIVE STUDY
Ha Neul Lee, Hemant Sawnani, Paul S Horn, Irina Rybalsky, Lani Relucio, Brenda L Wong
The Performance of the Upper Limb scale was developed as an outcome measure specifically for ambulant and non-ambulant patients with Duchenne muscular dystrophy and is implemented in clinical trials needing longitudinal data. The aim of this study is to determine whether this novel tool correlates with functional ability using pulmonary function test, cardiac function test and Egen Klassifikation scale scores as clinical measures. In this cross-sectional study, 43 non-ambulatory Duchenne males from ages 10 to 30 years and on long-term glucocorticoid treatment were enrolled...
April 2016: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/26930423/clinical-trial-readiness-in-non-ambulatory-boys-and-men-with-duchenne-muscular-dystrophy-mda-dmd-network-follow-up
#11
Anne M Connolly, Julaine M Florence, Craig M Zaidman, Paul T Golumbek, Jerry R Mendell, Kevin M Flanigan, Peter I Karachunski, John W Day, Craig M McDonald, Basil T Darras, Peter B Kang, Catherine A Siener, Rebecca K Gadeken, Pallavi Anand, Jeanine R Schierbecker, Elizabeth C Malkus, Linda P Lowes, Lindsay N Alfano, Linda Johnson, Alina Nicorici, Jason M Kelecic, Janet Quigley, Amy E Pasternak, J Philip Miller
INTRODUCTION: Outcomes sensitive to change over time in non-ambulatory boys/men with Duchenne muscular dystrophy (DMD) are not well-established. METHODS: Subjects (n = 91; 16.8 ± 4.5 years old) were assessed at baseline and 6-month intervals for 2 years. We analyzed all subjects using an intent-to-treat model and a subset of stronger subjects with Brooke Scale score ≤4, using repeated measures. RESULTS: Eight patients (12-33 years old) died during the study...
October 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/26522261/association-between-response-to-etrolizumab-and-expression-of-integrin-%C3%AE-e-and-granzyme-a-in-colon-biopsies-of-patients-with-ulcerative-colitis
#12
COMPARATIVE STUDY
Gaik W Tew, Jason A Hackney, Deena Gibbons, Christopher A Lamb, Diana Luca, Jackson G Egen, Lauri Diehl, Jeff Eastham Anderson, Severine Vermeire, John C Mansfield, Brian G Feagan, Julian Panes, Daniel C Baumgart, Stefan Schreiber, Iris Dotan, William J Sandborn, John A Kirby, Peter M Irving, Gert De Hertogh, Gert A Van Assche, Paul Rutgeerts, Sharon O'Byrne, Adrian Hayday, Mary E Keir
BACKGROUND & AIMS: Etrolizumab is a humanized monoclonal antibody against the β7 integrin subunit that has shown efficacy vs placebo in patients with moderate to severely active ulcerative colitis (UC). Patients with colon tissues that expressed high levels of the integrin αE gene (ITGAE) appeared to have the best response. We compared differences in colonic expression of ITGAE and other genes between patients who achieved clinical remission with etrolizumab vs those who did. METHODS: We performed a retrospective analysis of data collected from 110 patients with UC who participated in a phase 2 placebo-controlled trial of etrolizumab, as well as from 21 patients with UC or without inflammatory bowel disease (controls) enrolled in an observational study at a separate site...
February 2016: Gastroenterology
https://www.readbyqxmd.com/read/26461127/-evolution-of-functional-capacity-assessed-with-the-egen-klassifikation-scale-in-the-spanish-population-with-spinal-muscular-atrophy-or-duchenne-muscular-dystrophy-a-three-year-longitudinal-study
#13
J Fagoaga, M Girabent-Farres, C Bagur-Calafat, B F Steffensen
INTRODUCTION: Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are two neuromuscular diseases which evolve with a progressive loss of muscle strength and, therefore, the loss of functional capacity. The valuation measurement scales are used to understand better and to quantify this involution as well as making treatment to anticipate problems and improve the quality of life of people suffering from these diseases. AIM: To study the changes in the functional capacity of a group of patients with SMA and DMD, over a period of three years...
October 16, 2015: Revista de Neurologia
https://www.readbyqxmd.com/read/26388596/turkish-version-of-the-egen-klassifikation-scale-version-2-validity-and-reliability-in-the-turkish-population
#14
İpek Alemdaroğlu, Ayşe Karaduman, Gözde İyigün-Yatar, Öznur Tunca-Yılmaz, Haluk Topaloğlu
The Egen Klassifikation Scale version 2 (EK2) is an important functional ability assessment scale for nonambulant neuromuscular patients. We investigated the validity and reliability of the EK2 scale in Turkish Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) patients. Forty-one patients were included in the study. An intra/interobserver reliability study of the EK2 scale as translated into Turkish was performed. The Brooke Functional Classification Scale (BFC) for Upper and Lower Extremities, 10-item Modified Barthel's Index for Activities of Daily Living (MBI), and Pulmonary Dysfunction Index (PDI) were used to investigate the validity of the Turkish version of the EK2 scale...
November 2014: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/26290411/th2-and-th17-inflammatory-pathways-are-reciprocally-regulated-in-asthma
#15
David F Choy, Kevin M Hart, Lee A Borthwick, Aarti Shikotra, Deepti R Nagarkar, Salman Siddiqui, Guiquan Jia, Chandra M Ohri, Emma Doran, Kevin M Vannella, Claire A Butler, Beverley Hargadon, Joshua C Sciurba, Richard L Gieseck, Robert W Thompson, Sandra White, Alexander R Abbas, Janet Jackman, Lawren C Wu, Jackson G Egen, Liam G Heaney, Thirumalai R Ramalingam, Joseph R Arron, Thomas A Wynn, Peter Bradding
Increasing evidence suggests that asthma is a heterogeneous disorder regulated by distinct molecular mechanisms. In a cross-sectional study of asthmatics of varying severity (n = 51), endobronchial tissue gene expression analysis revealed three major patient clusters: TH2-high, TH17-high, and TH2/17-low. TH2-high and TH17-high patterns were mutually exclusive in individual patient samples, and their gene signatures were inversely correlated and differentially regulated by interleukin-13 (IL-13) and IL-17A. To understand this dichotomous pattern of T helper 2 (TH2) and TH17 signatures, we investigated the potential of type 2 cytokine suppression in promoting TH17 responses in a preclinical model of allergen-induced asthma...
August 19, 2015: Science Translational Medicine
https://www.readbyqxmd.com/read/26158342/-development-and-implementation-of-a-comprehensive-health-management-system-fit-for-work-and-life-for-employees-of-a-university-hospital-a-practice-report
#16
C Gutenbrunner, C Egen, K G Kahl, J Briest, U Tegtbur, J Miede, M Born
Background: Due to the increase of sick leave, prolonging working life and the prediction of shortage of skilled workers in the future, health management systems are continuously gaining importance. Employees in a University Hospital are exposed to particular stress factors, which are also reflected in a higher than average amount of sick leave. Against this background, the project "Fit for Work and Life" (FWL) was developed and implemented by the Hannover Medical School (MHH). Aims: FWL aims to maintain, improve or recover the work ability of employees by offering both preventive and rehabilitative treatments...
July 9, 2015: Das Gesundheitswesen
https://www.readbyqxmd.com/read/26027500/accurate-and-fast-multiple-testing-correction-in-eqtl-studies
#17
Jae Hoon Sul, Towfique Raj, Simone de Jong, Paul I W de Bakker, Soumya Raychaudhuri, Roel A Ophoff, Barbara E Stranger, Eleazar Eskin, Buhm Han
In studies of expression quantitative trait loci (eQTLs), it is of increasing interest to identify eGenes, the genes whose expression levels are associated with variation at a particular genetic variant. Detecting eGenes is important for follow-up analyses and prioritization because genes are the main entities in biological processes. To detect eGenes, one typically focuses on the genetic variant with the minimum p value among all variants in cis with a gene and corrects for multiple testing to obtain a gene-level p value...
June 4, 2015: American Journal of Human Genetics
https://www.readbyqxmd.com/read/25952598/-functional-assessment-for-people-unable-to-walk-due-to-spinal-muscular-atrophy-and-duchenne-muscular-dystrophy-translation-and-validation-of-the-egen-klassifikation-2-scale-for-the-spanish-population
#18
COMPARATIVE STUDY
Joaquín Fagoaga, Montserrat Girabent-Farrés, Caritat Bagur-Calafat, Anna Febrer, Birgit F Steffensen
INTRODUCTION: The Egen Klassifikation 2 Scale (EK2), expansion of the EK scale, assesses the functional capacity of people with spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) that are in wheelchair phase. This version is more specific for SMA than its EK predecessor. AIM: To examine the validity and reliability of the Spanish version of the scale as a tool for measuring the functional capacity in patients with DMD and SMA who are in wheelchairs...
May 16, 2015: Revista de Neurologia
https://www.readbyqxmd.com/read/25677126/most-a-software-environment-for-constraint-based-metabolic-modeling-and-strain-design
#19
James J Kelley, Anatoliy Lane, Xiaowei Li, Brahmaji Mutthoju, Shay Maor, Dennis Egen, Desmond S Lun
SUMMARY: MOST (metabolic optimization and simulation tool) is a software package that implements GDBB (genetic design through branch and bound) in an intuitive user-friendly interface with excel-like editing functionality, as well as implementing FBA (flux balance analysis), and supporting systems biology markup language and comma-separated values files. GDBB is currently the fastest algorithm for finding gene knockouts predicted by FBA to increase production of desired products, but GDBB has only been available on a command line interface, which is difficult to use for those without programming knowledge, until the release of MOST...
February 15, 2015: Bioinformatics
https://www.readbyqxmd.com/read/25307854/results-of-a-two-year-pilot-study-of-clinical-outcome-measures-in-collagen-vi-and-laminin-alpha2-related-congenital-muscular-dystrophies
#20
Katherine G Meilleur, Minal S Jain, Linda S Hynan, Ching-Yi Shieh, Eunice Kim, Melissa Waite, Michelle McGuire, Courtney Fiorini, Allan M Glanzman, Marion Main, Kristy Rose, Tina Duong, Roxanna Bendixen, Melody M Linton, Irene C Arveson, Carmel Nichols, Kelly Yang, Kenneth H Fischbeck, Kathryn R Wagner, Kathryn North, Ami Mankodi, Christopher Grunseich, Elizabeth J Hartnett, Michaele Smith, Sandra Donkervoort, Alice Schindler, Angela Kokkinis, Meganne Leach, A Reghan Foley, James Collins, Francesco Muntoni, Anne Rutkowski, Carsten G Bönnemann
Potential therapies are currently under development for two congenital muscular dystrophy (CMD) subtypes: collagen VI-related muscular dystrophy (COL6-RD) and laminin alpha 2-related dystrophy (LAMA2-RD). However, appropriate clinical outcome measures to be used in clinical trials have not been validated in CMDs. We conducted a two-year pilot study to evaluate feasibility, reliability, and validity of various outcome measures, particularly the Motor Function Measure 32, in 33 subjects with COL6-RD and LAMA2-RD...
January 2015: Neuromuscular Disorders: NMD
keyword
keyword
65284
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"