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Ruth Clark

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https://www.readbyqxmd.com/read/29317751/methylation-in-mycobacterium-tuberculosis-is-lineage-specific-with-associated-mutations-present-globally
#1
Jody Phelan, Paola Florez de Sessions, Leopold Tientcheu, Joao Perdigao, Diana Machado, Rumina Hasan, Zahra Hasan, Indra L Bergval, Richard Anthony, Ruth McNerney, Martin Antonio, Isabel Portugal, Miguel Viveiros, Susana Campino, Martin L Hibberd, Taane G Clark
DNA methylation is an epigenetic modification of the genome involved in regulating crucial cellular processes, including transcription and chromosome stability. Advances in PacBio sequencing technologies can be used to robustly reveal methylation sites. The methylome of the Mycobacterium tuberculosis complex is poorly understood but may be involved in virulence, hypoxic survival and the emergence of drug resistance. In the most extensive study to date, we characterise the methylome across the 4 major lineages of M...
January 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29305308/mast-cell-activation-syndrome-mimicking-breast-cancer-case-report-with-pathophysiologic-considerations
#2
Gerhard J Molderings, Ruth Knüchel-Clarke, Hans-Jörg Hertfelder, Christiane Kuhl
No abstract text is available yet for this article.
December 12, 2017: Clinical Breast Cancer
https://www.readbyqxmd.com/read/29298069/identification-of-n-cis-3-methyl-7h-pyrrolo-2-3-d-pyrimidin-4-yl-amino-cyclobutyl-propane-1-sulfonamide-pf-04965842-a-selective-jak1-clinical-candidate-for-the-treatment-of-autoimmune-diseases
#3
Michael L Vazquez, Neelu Kaila, Joseph W Strohbach, John D Trzupek, Matthew F Brown, Mark E Flanagan, Mark J MItton-Fry, Timothy A Johnson, Ruth E TenBrink, Eric P Arnold, Arindrajit Basak, Steven E Heasley, Soojin Kwon, Jonathan Langille, Mihir D Parikh, Sarah H Griffin, Jeffrey M Casavant, Brian A Duclos, Ashley E Fenwick, Thomas M Harris, Seungil Han, Nicole L Caspers, Martin E Dowty, Xin Yang, Mary Ellen Banker, Martin Hegen, Peter T Symanowicz, Li Li, Lu Wang, Tsung H Lin, Jason Jussif, James D Clark, Jean-Baptiste Telliez, Ralph P Robinson, Ray Unwalla
Janus kinases (JAKs) are intracellular tyrosine kinases that mediate the signaling of numerous cytokines and growth factors involved in the regulation of immunity, inflammation and hematopoiesis. As JAK1 pairs with JAK2, JAK3 and TYK2, a JAK1-selective inhibitor would be expected to inhibit many cytokines involved in inflammation and immune function, while avoiding inhibition of the JAK2 homodimer regulating EPO and TPO signaling. Our efforts began with tofacitinib, an oral JAK inhibitor approved for the treatment of rheumatoid arthritis (RA)...
January 3, 2018: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29247113/outcomes-of-specialist-discharge-coordination-and-intermediate-care-schemes-for-patients-who-are-homeless-analysis-protocol-for-a-population-based-historical-cohort
#4
Ruth M Blackburn, Andrew Hayward, Michelle Cornes, Martin McKee, Dan Lewer, Martin Whiteford, Dee Menezes, Serena Luchenski, Alistair Story, Spiros Denaxas, Michela Tinelli, Fatima B Wurie, Richard Byng, Michael C Clark, James Fuller, Mark Gabbay, Nigel Hewett, Alan Kilmister, Jill Manthorpe, Joanne Neale, Robert W Aldridge
INTRODUCTION: People who are homeless often experience poor hospital discharge arrangements, reflecting ongoing care and housing needs. Specialist integrated homeless health and care provision (SIHHC) schemes have been developed and implemented to facilitate the safe and timely discharge of homeless patients from hospital. Our study aims to investigate the health outcomes of patients who were homeless and seen by a selection of SIHHC services. METHODS AND ANALYSIS: Our study will employ a historical population-based cohort in England...
December 14, 2017: BMJ Open
https://www.readbyqxmd.com/read/29220639/early-lumbar-puncture-and-risk-of-intraventricular-hemorrhage-in-very-low-birth-weight-infants
#5
Daniela Testoni, Christoph P Hornik, Ruth Guinsburg, Reese H Clark, Rachel G Greenberg, Daniel K Benjamin, P Brian Smith
BACKGROUND: Lumbar puncture (LP) is the gold standard for diagnosing meningitis; however it is unknown whether early LP (≤3days of life) is associated with increased risk of intraventricular hemorrhage (IVH) in very low birth weight (VLBW) infants. OBJECTIVE: To determine whether early LP in VLBW infants is associated with severe IVH. METHODS: VLBW infants from a cohort of 1,158,789 infants discharged from 382 neonatal intensive care units (1997-2015) were enrolled...
December 5, 2017: Early Human Development
https://www.readbyqxmd.com/read/29199731/ionic-liquids-at-interfaces-general-discussion
#6
Andrew Abbott, Matthew Addicoat, Leigh Aldous, Radha Gobinda Bhuin, Natalia Borisenko, José Nuno Canongia Lopes, Ryan Clark, Samuel Coles, Margarida Costa Gomes, Benjamin Cross, Jeffrey Everts, Millicent Firestone, Ramesh Gardas, Matthieu Gras, Simon Halstead, Christopher Hardacre, John Holbrey, Toshiyuki Itoh, Vladislav Ivaništšev, Johan Jacquemin, Philip Jessop, Robert Jones, Barbara Kirchner, Sichao Li, Ruth Lynden-Bell, Doug MacFarlane, Florian Maier, Markus Mezger, Agílio Pádua, Octavian D Pavel, Susan Perkin, Simon Purcell, Mark Rutland, John M Slattery, Sefik Suzer, Kazuhisa Tamura, Morgan L Thomas, Shraeddha Tiwari, Seiji Tsuzuki, Betul Uralcan, William Wallace, Masayoshi Watanabe, James Wishart
No abstract text is available yet for this article.
December 4, 2017: Faraday Discussions
https://www.readbyqxmd.com/read/29143088/the-association-of-preoperative-hematocrit-and-transfusion-with-mortality-in-patients-undergoing-elective-non-cardiac-surgery
#7
Rodney A Gabriel, Anthony I Clark, Albert P Nguyen, Ruth S Waterman, Ulrich H Schmidt
BACKGROUND: Patients with anemia frequently undergo surgery, as it is unclear at what threshold clinicians should consider delaying surgery for preoperative anemia optimization. The primary objective of this study was to determine whether there is an association of varying degrees of anemia and transfusion with 30-day mortality. METHODS: This is a retrospective cohort study using the American College of Surgeons National Surgical Quality Improvement Program database from 2011 to 2013...
November 15, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/29141072/association-of-cetp-gene-variants-with-risk-for-vascular-and-nonvascular-diseases-among-chinese-adults
#8
Iona Y Millwood, Derrick A Bennett, Michael V Holmes, Ruth Boxall, Yu Guo, Zheng Bian, Ling Yang, Sam Sansome, Yiping Chen, Huaidong Du, Canqing Yu, Alex Hacker, Dermot F Reilly, Yunlong Tan, Michael R Hill, Junshi Chen, Richard Peto, Hongbing Shen, Rory Collins, Robert Clarke, Liming Li, Robin G Walters, Zhengming Chen
Importance: Increasing levels of high-density lipoprotein (HDL) cholesterol through pharmacologic inhibition of cholesteryl ester transfer protein (CETP) is a potentially important strategy for prevention and treatment of cardiovascular disease (CVD). Objective: To use genetic variants in the CETP gene to assess potential risks and benefits of lifelong lower CETP activity on CVD and other outcomes. Design, Setting, and Participants: This prospective biobank study included 151 217 individuals aged 30 to 79 years who were enrolled from 5 urban and 5 rural areas of China from June 25, 2004, through July 15, 2008...
November 15, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29122238/environmental-control-of-harmful-dinoflagellates-and-diatoms-in-a-fjordic-system
#9
Ruth F Paterson, Sharon McNeill, Elaine Mitchell, Thomas Adams, Sarah C Swan, Dave Clarke, Peter I Miller, Eileen Bresnan, Keith Davidson
Fjordic coastlines provide an ideal protected environment for both finfish and shellfish aquaculture operations. This study reports the results of a cruise to the Scottish Clyde Sea, and associated fjordic sea lochs, that coincided with blooms of the diarrhetic shellfish toxin producing dinoflagellate Dinophysis acuta and the diatom genus Chaetoceros, that can generate finfish mortalities. Unusually, D. acuta reached one order of magnitude higher cell abundance in the water column (2840cellsL(-1)) than the more common Dinophysis acuminata (200cellsL(-1)) and was linked with elevated shellfish toxicity (maximum 601±237μg OA eq/kg shellfish flesh) which caused shellfish harvesting closures in the region...
November 2017: Harmful Algae
https://www.readbyqxmd.com/read/29050768/single-nucleotide-polymorphisms-in-efflux-pumps-genes-in-extensively-drug-resistant-mycobacterium-tuberculosis-isolates-from-pakistan
#10
Akbar Kanji, Rumina Hasan, Asho Ali, Ambreen Zaver, Ying Zhang, Kehkashan Imtiaz, Wanliang Shi, Taane G Clark, Ruth McNerney, Jody Phelan, Shoaib Rao, Samreen Shafiq, Zahra Hasan
It is challenging to understand mechanisms of drug resistance in Mycobacterium tuberculosis (MTB) due to the large variability in resistance associated genes. Efflux pump genes contribute to drug resistance and thus add to this complexity. Efflux pump gene protein superfamilies have been characterized by genome analysis of drug resistant strains and through in vitro transcriptional studies. However, there is limited information regarding efflux pump genes in extensively drug resistant (XDR) tuberculosis (TB) isolates...
December 2017: Tuberculosis
https://www.readbyqxmd.com/read/29023437/22-years-of-predictive-testing-for-huntington-s-disease-the-experience-of-the-uk-huntington-s-prediction-consortium
#11
Sheharyar S Baig, Mark Strong, Elisabeth Rosser, Nicola V Taverner, Ruth Glew, Zosia Miedzybrodzka, Angus Clarke, David Craufurd
This corrects the article DOI: 10.1038/ejhg.2016.36.
November 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29020922/a-multiple-genome-analysis-of-mycobacterium-tuberculosis-reveals-specific-novel-genes-and-mutations-associated-with-pyrazinamide-resistance
#12
Patricia Sheen, David Requena, Eduardo Gushiken, Robert H Gilman, Ricardo Antiparra, Bryan Lucero, Pilar Lizárraga, Basilio Cieza, Elisa Roncal, Louis Grandjean, Arnab Pain, Ruth McNerney, Taane G Clark, David Moore, Mirko Zimic
BACKGROUND: Tuberculosis (TB) is a major global health problem and drug resistance compromises the efforts to control this disease. Pyrazinamide (PZA) is an important drug used in both first and second line treatment regimes. However, its complete mechanism of action and resistance remains unclear. RESULTS: We genotyped and sequenced the complete genomes of 68 M. tuberculosis strains isolated from unrelated TB patients in Peru. No clustering pattern of the strains was verified based on spoligotyping...
October 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28973655/clinical-and-molecular-features-of-renal-and-pheochromocytoma-paraganglioma-tumor-association-syndrome-raptas-case-series-and-literature-review
#13
Ruth T Casey, Anne Y Warren, Jose Ezequiel Martin, Benjamin G Challis, Eleanor Rattenberry, James Whitworth, Katrina A Andrews, Thomas Roberts, Graeme R Clark, Hannah West, Philip S Smith, France M Docquier, Fay Rodger, Vicki Murray, Helen L Simpson, Yvonne Wallis, Olivier Giger, Maxine Tran, Susan Tomkins, Grant D Stewart, Soo-Mi Park, Emma R Woodward, Eamonn R Maher
Context: The co-occurrence of pheochromocytoma (PC) and renal tumors was linked to the inherited familial cancer syndrome von Hippel-Lindau (VHL) disease more than six decades ago. Subsequently, other shared genetic causes of predisposition to renal tumors and to PC, paraganglioma (PGL), or head and neck paraganglioma (HNPGL) have been described, but case series of non-VHL-related cases of renal tumor and pheochromocytoma/paraganglioma tumor association syndrome (RAPTAS) are rare. Objective: To determine the clinical and molecular features of non-VHL RAPTAS by literature review and characterization of a case series...
November 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28934590/the-relationship-between-the-human-genome-and-microbiome-comes-into-view
#14
Julia K Goodrich, Emily R Davenport, Andrew G Clark, Ruth E Ley
The body's microbiome, composed of microbial cells that number in the trillions, is involved in human health and disease in ways that are just starting to emerge. The microbiome is assembled at birth, develops with its host, and is greatly influenced by environmental factors such as diet and other exposures. Recently, a role for human genetic variation has emerged as also influential in accounting for interpersonal differences in microbiomes. Thus, human genes may influence health directly or by promoting a beneficial microbiome...
November 27, 2017: Annual Review of Genetics
https://www.readbyqxmd.com/read/28929330/development-of-a-rapid-analysis-method-for-bone-resection-margins-for-oral-squamous-cell-carcinoma-by-immunoblotting
#15
Claudia Haase, Bernd Lethaus, Ruth Knüchel-Clarke, Frank Hölzle, Angela Cassataro, Till Braunschweig
The purpose of this proof-of-principle study was to develop a rapid and approachable method to analyse bone resection margins in patients with oral squamous cell carcinoma (OSCC) in an intraoperative setting, similar to assessing frozen sections of soft tissue. Bone excision and risk of remaining tumour cells could be minimised, thus improving reconstruction measures and facilitating convalescence. Frozen, sawed wafers of porcine bone artificially combined with porcine skin (simulating OSCC properties) were used to develop and evaluate a new molecular method: protein transfer from non-decalcified, sawed wafers onto a membrane stained by immunofluorescence (Tissue-ProtTrans)...
September 19, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28916534/pretreatment-behavior-and-subsequent-medication-effects-in-childhood-absence-epilepsy
#16
RANDOMIZED CONTROLLED TRIAL
Ruth C Shinnar, Shlomo Shinnar, Avital Cnaan, Peggy Clark, Dennis Dlugos, Deborah G Hirtz, Fengming Hu, Chunyan Liu, David Masur, Erica F Weiss, Tracy A Glauser
OBJECTIVE: To characterize pretreatment behavioral problems and differential effects of initial therapy in children with childhood absence epilepsy (CAE). METHODS: The Child Behavior Checklist (CBCL) was administered at baseline, week 16-20, and month 12 visits of a randomized double-blind trial of ethosuximide, lamotrigine, and valproate. Total problems score was the primary outcome measure. RESULTS: A total of 382 participants at baseline, 310 participants at the week 16-20 visit, and 168 participants at the month 12 visit had CBCL data...
October 17, 2017: Neurology
https://www.readbyqxmd.com/read/28782561/sex-differences-in-fitnessgram%C3%A2-health-risk-based-on-aerobic-capacity-and-body-composition-among-urban-public-elementary-school-children
#17
Susan B Racette, Mary L Uhrich, M Leanne White, Liyang Yu, B Ruth Clark
Children residing in urban, low-resource neighborhoods may be at increased risk for poor aerobic fitness and obesity. The objective of this collaborative project with an urban public school district was to quantify the combination of poor aerobic capacity and high percent body fat using FITNESSGRAM® Healthy Fitness Zone (HFZ) standards among urban, predominantly Black, public elementary school boys and girls. Measurements of aerobic capacity with the 20-m Progressive Aerobic Cardiovascular Endurance Run (PACER) test and body composition by bioelectrical impedance analysis were completed on 1,775 fourth and fifth grade students in 45 public elementary schools in St...
August 4, 2017: Preventive Medicine
https://www.readbyqxmd.com/read/28714975/association-analyses-based-on-false-discovery-rate-implicate-new-loci-for-coronary-artery-disease
#18
Christopher P Nelson, Anuj Goel, Adam S Butterworth, Stavroula Kanoni, Tom R Webb, Eirini Marouli, Lingyao Zeng, Ioanna Ntalla, Florence Y Lai, Jemma C Hopewell, Olga Giannakopoulou, Tao Jiang, Stephen E Hamby, Emanuele Di Angelantonio, Themistocles L Assimes, Erwin P Bottinger, John C Chambers, Robert Clarke, Colin N A Palmer, Richard M Cubbon, Patrick Ellinor, Raili Ermel, Evangelos Evangelou, Paul W Franks, Christopher Grace, Dongfeng Gu, Aroon D Hingorani, Joanna M M Howson, Erik Ingelsson, Adnan Kastrati, Thorsten Kessler, Theodosios Kyriakou, Terho Lehtimäki, Xiangfeng Lu, Yingchang Lu, Winfried März, Ruth McPherson, Andres Metspalu, Mar Pujades-Rodriguez, Arno Ruusalepp, Eric E Schadt, Amand F Schmidt, Michael J Sweeting, Pierre A Zalloua, Kamal AlGhalayini, Bernard D Keavney, Jaspal S Kooner, Ruth J F Loos, Riyaz S Patel, Martin K Rutter, Maciej Tomaszewski, Ioanna Tzoulaki, Eleftheria Zeggini, Jeanette Erdmann, George Dedoussis, Johan L M Björkegren, Heribert Schunkert, Martin Farrall, John Danesh, Nilesh J Samani, Hugh Watkins, Panos Deloukas
Genome-wide association studies (GWAS) in coronary artery disease (CAD) had identified 66 loci at 'genome-wide significance' (P < 5 × 10-8) at the time of this analysis, but a much larger number of putative loci at a false discovery rate (FDR) of 5% (refs. 1,2,3,4). Here we leverage an interim release of UK Biobank (UKBB) data to evaluate the validity of the FDR approach. We tested a CAD phenotype inclusive of angina (SOFT; ncases = 10,801) as well as a stricter definition without angina (HARD; ncases = 6,482) and selected cases with the former phenotype to conduct a meta-analysis using the two most recent CAD GWAS...
September 2017: Nature Genetics
https://www.readbyqxmd.com/read/28701409/what-outcomes-are-associated-with-developing-and-implementing-co-produced-interventions-in-acute-healthcare-settings-a-rapid-evidence-synthesis
#19
David Clarke, Fiona Jones, Ruth Harris, Glenn Robert
BACKGROUND: Co-production is defined as the voluntary or involuntary involvement of users in the design, management, delivery and/or evaluation of services. Interest in co-production as an intervention for improving healthcare quality is increasing. In the acute healthcare context, co-production is promoted as harnessing the knowledge of patients, carers and staff to make changes about which they care most. However, little is known regarding the impact of co-production on patient, staff or organisational outcomes in these settings...
July 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28595361/mitochondrial-dysfunction-underlies-cognitive-defects-as-a-result-of-neural-stem-cell-depletion-and-impaired-neurogenesis
#20
Mireille Khacho, Alysen Clark, Devon S Svoboda, Jason G MacLaurin, Diane C Lagace, David S Park, Ruth S Slack
Mitochondrial dysfunction is a common feature of many genetic disorders that target the brain and cognition. However, the exact role these organelles play in the etiology of such disorders is not understood. Here, we show that mitochondrial dysfunction impairs brain development, depletes the adult neural stem cell (NSC) pool and impacts embryonic and adult neurogenesis. Using deletion of the mitochondrial oxidoreductase AIF as a genetic model of mitochondrial and neurodegenerative diseases revealed the importance of mitochondria in multiple steps of the neurogenic process...
September 1, 2017: Human Molecular Genetics
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