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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)
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
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
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
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
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
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
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
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
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
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
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
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
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
Daryle J DePianto, Sanjay Chandriani, Alexander R Abbas, Guiquan Jia, Elsa N N'Diaye, Patrick Caplazi, Steven E Kauder, Sabyasachi Biswas, Satyajit K Karnik, Connie Ha, Zora Modrusan, Michael A Matthay, Jasleen Kukreja, Harold R Collard, Jackson G Egen, Paul J Wolters, Joseph R Arron
BACKGROUND: There is microscopic spatial and temporal heterogeneity of pathological changes in idiopathic pulmonary fibrosis (IPF) lung tissue, which may relate to heterogeneity in pathophysiological mediators of disease and clinical progression. We assessed relationships between gene expression patterns, pathological features, and systemic biomarkers to identify biomarkers that reflect the aggregate disease burden in patients with IPF. METHODS: Gene expression microarrays (N=40 IPF; 8 controls) and immunohistochemical analyses (N=22 IPF; 8 controls) of lung biopsies...
January 2015: Thorax
Anne M Connolly, Elizabeth C Malkus, Jerry R Mendell, Kevin M Flanigan, J Philip Miller, Jeanine R Schierbecker, Catherine A Siener, Paul T Golumbek, Craig M Zaidman, Craig M Mcdonald, Linda Johnson, Alina Nicorici, Peter I Karachunski, John W Day, Jason M Kelecic, Linda P Lowes, Lindsay N Alfano, Basil T Darras, Peter B Kang, Janet Quigley, Amy E Pasternak, Julaine M Florence
INTRODUCTION: Therapeutic trials in Duchenne muscular dystrophy (DMD) often exclude non-ambulatory individuals. Here we establish optimal and reliable assessments in a multicenter trial. METHODS: Non-ambulatory boys/men with DMD (N = 91; 16.7 ± 4.5 years of age) were assessed by trained clinical evaluators. Feasibility (percentage completing task) and reliability [intraclass correlation coefficients (ICCs) between morning and afternoon tests] were measured...
April 2015: Muscle & Nerve
C Egen, K Ballüer, I Wilhelm, H-J Lindner, D Gaedtke, H Klein, W Seger, D Rohland, N Schenke, C Gutenbrunner
We describe the results of a survey of claim forms that are used when starting rehabilitation following inpatient treatment and of an evaluation of a claim form developed on the basis of the results. The survey of different existing forms shows a high overlapping in content, suggesting the possibility of unification to one claim form that can be accepted by all insurers. In analogy to the Delphi method criteria for evaluation were consented and applied by the author group to assess the relevance of the claim forms content items for the process of initiating rehabilitation...
May 2015: Das Gesundheitswesen
Sanjay Chandriani, Daryle J DePianto, Elsa N N'Diaye, Alexander R Abbas, Janet Jackman, Jack Bevers, Vladimir Ramirez-Carrozzi, Rajita Pappu, Steven E Kauder, Karen Toy, Connie Ha, Zora Modrusan, Lawren C Wu, Harold R Collard, Paul J Wolters, Jackson G Egen, Joseph R Arron
IL-13 can bind to two distinct receptors: a heterodimer of IL-13Rα1/IL-4Rα and IL-13Rα2. Whereas IL-13Rα1/IL-4Rα engagement by IL-13 leads to the activation of STAT6, the molecular events triggered by IL-13 binding to IL-13Rα2 remain incompletely understood. IL-4 can bind to and signal through the IL-13Rα1/IL-4Rα complex but does not interact with IL-13Rα2. Idiopathic pulmonary fibrosis is a progressive and generally fatal parenchymal lung disease of unknown etiology with no current pharmacologic treatment options that substantially prolong survival...
July 1, 2014: Journal of Immunology: Official Journal of the American Association of Immunologists
S S Amundsen, M K Viken, L M Sollid, B A Lie
Significant associations between coeliac disease (CD) and single nucleotide polymorphisms (SNPs) distributed over 40 genetic regions have been established. The majority of these SNPs are non-coding and 20 SNPs were, by expression quantitative trait loci (eQTL) analysis, found to harbour cis regulatory potential in peripheral blood mononuclear cells (PBMC). Almost all regions contain genes with an immunological relevant function, of which many act in the same biological pathways. One such pathway is T-cell development in the thymus, a pathway previously not explored in CD pathogenesis...
September 2014: Genes and Immunity
Séverine Vermeire, Sharon O'Byrne, Mary Keir, Marna Williams, Timothy T Lu, John C Mansfield, Christopher A Lamb, Brian G Feagan, Julian Panes, Azucena Salas, Daniel C Baumgart, Stefan Schreiber, Iris Dotan, William J Sandborn, Gaik W Tew, Diana Luca, Meina T Tang, Lauri Diehl, Jeffrey Eastham-Anderson, Gert De Hertogh, Clementine Perrier, Jackson G Egen, John A Kirby, Gert van Assche, Paul Rutgeerts
BACKGROUND: Etrolizumab is a humanised monoclonal antibody that selectively binds the β7 subunit of the heterodimeric integrins α4β7 and αEβ7. We aimed to assess etrolizumab in patients with moderately-to-severely active ulcerative colitis. METHODS: In this double-blind, placebo-controlled, randomised, phase 2 study, patients with moderately-to-severely active ulcerative colitis who had not responded to conventional therapy were recruited from 40 referral centres in 11 countries...
July 26, 2014: Lancet
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