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Mark McCarthy

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https://www.readbyqxmd.com/read/29343764/genome-wide-association-study-in-79-366-european-ancestry-individuals-informs-the-genetic-architecture-of-25-hydroxyvitamin-d-levels
#1
Xia Jiang, Paul F O'Reilly, Hugues Aschard, Yi-Hsiang Hsu, J Brent Richards, Josée Dupuis, Erik Ingelsson, David Karasik, Stefan Pilz, Diane Berry, Bryan Kestenbaum, Jusheng Zheng, Jianan Luan, Eleni Sofianopoulou, Elizabeth A Streeten, Demetrius Albanes, Pamela L Lutsey, Lu Yao, Weihong Tang, Michael J Econs, Henri Wallaschofski, Henry Völzke, Ang Zhou, Chris Power, Mark I McCarthy, Erin D Michos, Eric Boerwinkle, Stephanie J Weinstein, Neal D Freedman, Wen-Yi Huang, Natasja M Van Schoor, Nathalie van der Velde, Lisette C P G M de Groot, Anke Enneman, L Adrienne Cupples, Sarah L Booth, Ramachandran S Vasan, Ching-Ti Liu, Yanhua Zhou, Samuli Ripatti, Claes Ohlsson, Liesbeth Vandenput, Mattias Lorentzon, Johan G Eriksson, M Kyla Shea, Denise K Houston, Stephen B Kritchevsky, Yongmei Liu, Kurt K Lohman, Luigi Ferrucci, Munro Peacock, Christian Gieger, Marian Beekman, Eline Slagboom, Joris Deelen, Diana van Heemst, Marcus E Kleber, Winfried März, Ian H de Boer, Alexis C Wood, Jerome I Rotter, Stephen S Rich, Cassianne Robinson-Cohen, Martin den Heijer, Marjo-Riitta Jarvelin, Alana Cavadino, Peter K Joshi, James F Wilson, Caroline Hayward, Lars Lind, Karl Michaëlsson, Stella Trompet, M Carola Zillikens, Andre G Uitterlinden, Fernando Rivadeneira, Linda Broer, Lina Zgaga, Harry Campbell, Evropi Theodoratou, Susan M Farrington, Maria Timofeeva, Malcolm G Dunlop, Ana M Valdes, Emmi Tikkanen, Terho Lehtimäki, Leo-Pekka Lyytikäinen, Mika Kähönen, Olli T Raitakari, Vera Mikkilä, M Arfan Ikram, Naveed Sattar, J Wouter Jukema, Nicholas J Wareham, Claudia Langenberg, Nita G Forouhi, Thomas E Gundersen, Kay-Tee Khaw, Adam S Butterworth, John Danesh, Timothy Spector, Thomas J Wang, Elina Hyppönen, Peter Kraft, Douglas P Kiel
Vitamin D is a steroid hormone precursor that is associated with a range of human traits and diseases. Previous GWAS of serum 25-hydroxyvitamin D concentrations have identified four genome-wide significant loci (GC, NADSYN1/DHCR7, CYP2R1, CYP24A1). In this study, we expand the previous SUNLIGHT Consortium GWAS discovery sample size from 16,125 to 79,366 (all European descent). This larger GWAS yields two additional loci harboring genome-wide significant variants (P = 4.7×10-9 at rs8018720 in SEC23A, and P = 1...
January 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29328887/macroscopic-rotator-cuff-tendinopathy-and-histopathology-do-not-predict-repair-outcomes-of-rotator-cuff-tears
#2
Paul M Sethi, Chirag D Sheth, Leo Pauzenberger, Mary Beth R McCarthy, Mark P Cote, Emma Soneson, Seth Miller, Augustus D Mazzocca
BACKGROUND: Numerous studies have identified factors that may affect the chances of rotator cuff healing after surgery. Intraoperative tendon quality may be used to predict healing and to determine type of repair and/or consideration of augmentation. There are no data that correlate how gross tendon morphology and degree of tendinopathy affect patient outcome or postoperative tendon healing. Purpose/Hypothesis: The purposes of this study were to (1) compare the gross appearance of the tendon edge during arthroscopic rotator cuff repair with its histological degree of tendinopathy and (2) determine if gross appearance correlated with postoperative repair integrity...
January 1, 2018: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/29325066/toppar-an-interactive-browser-for-viewing-association-study-results
#3
Thorhildur Juliusdottir, Karina Banasik, Neil R Robertson, Richard Mott, Mark I McCarthy
Summary: Data integration and visualization help geneticists make sense of large amounts of data. To help facilitate interpretation of genetic association data we developed Toppar, a customizable visualization tool that stores results from association studies and enables browsing over multiple results, by combining features from existing tools and linking to appropriate external databases. Availability: Detailed information on Toppar's features and functionality are on our website http://mccarthy...
January 8, 2018: Bioinformatics
https://www.readbyqxmd.com/read/29313844/large-scale-gwas-identifies-multiple-loci-for-hand-grip-strength-providing-biological-insights-into-muscular-fitness
#4
Sara M Willems, Daniel J Wright, Felix R Day, Katerina Trajanoska, Peter K Joshi, John A Morris, Amy M Matteini, Fleur C Garton, Niels Grarup, Nikolay Oskolkov, Anbupalam Thalamuthu, Massimo Mangino, Jun Liu, Ayse Demirkan, Monkol Lek, Liwen Xu, Guan Wang, Christopher Oldmeadow, Kyle J Gaulton, Luca A Lotta, Eri Miyamoto-Mikami, Manuel A Rivas, Tom White, Po-Ru Loh, Mette Aadahl, Najaf Amin, John R Attia, Krista Austin, Beben Benyamin, Søren Brage, Yu-Ching Cheng, Paweł Cięszczyk, Wim Derave, Karl-Fredrik Eriksson, Nir Eynon, Allan Linneberg, Alejandro Lucia, Myosotis Massidda, Braxton D Mitchell, Motohiko Miyachi, Haruka Murakami, Sandosh Padmanabhan, Ashutosh Pandey, Ioannis Papadimitriou, Deepak K Rajpal, Craig Sale, Theresia M Schnurr, Francesco Sessa, Nick Shrine, Martin D Tobin, Ian Varley, Louise V Wain, Naomi R Wray, Cecilia M Lindgren, Daniel G MacArthur, Dawn M Waterworth, Mark I McCarthy, Oluf Pedersen, Kay-Tee Khaw, Douglas P Kiel, Yannis Pitsiladis, Noriyuki Fuku, Paul W Franks, Kathryn N North, Cornelia M van Duijn, Karen A Mather, Torben Hansen, Ola Hansson, Tim Spector, Joanne M Murabito, J Brent Richards, Fernando Rivadeneira, Claudia Langenberg, John R B Perry, Nick J Wareham, Robert A Scott
Hand grip strength is a widely used proxy of muscular fitness, a marker of frailty, and predictor of a range of morbidities and all-cause mortality. To investigate the genetic determinants of variation in grip strength, we perform a large-scale genetic discovery analysis in a combined sample of 195,180 individuals and identify 16 loci associated with grip strength (P<5 × 10-8) in combined analyses. A number of these loci contain genes implicated in structure and function of skeletal muscle fibres (ACTG1), neuronal maintenance and signal transduction (PEX14, TGFA, SYT1), or monogenic syndromes with involvement of psychomotor impairment (PEX14, LRPPRC and KANSL1)...
July 12, 2017: Nature Communications
https://www.readbyqxmd.com/read/29306183/child-maltreatment-re-offending-in-families-served-by-the-united-states-air-force-family-advocacy-program
#5
Randy J McCarthy, Joel S Milner, Sarah L Coley, LaJuana Ormsby, Mark Oliver
The current study examined child maltreatment re-offending in United States Air Force (USAF) families. In a clinical database containing 24,999 child maltreatment incidents perpetrated by 15,042 offenders between the years 1997 and 2013, 13% of offenders maltreated a child on more than one date (i.e., they re-offended). We explored several offender demographic characteristics associated with who re-offended and found that civilians re-offended at a similar rate as active duty members, males re-offended at a similar rate as females, and younger offenders were more likely to re-offend than older offenders...
January 3, 2018: Child Abuse & Neglect
https://www.readbyqxmd.com/read/29300971/a-prospective-randomized-trial-of-prognostic-genicular-nerve-blocks-to-determine-the-predictive-value-for-the-outcome-of-cooled-radiofrequency-ablation-for-chronic-knee-pain-due-to-osteoarthritis
#6
Zachary L McCormick, Rajiv Reddy, Marc Korn, David Dayanim, Raafay H Syed, Meghan Bhave, Mikhail Zhukalin, Sarah Choxi, Ali Ebrahimi, Mark C Kendall, Robert J McCarthy, Dost Khan, Geeta Nagpal, Karina Bouffard, David R Walega
Background and Objectives: Genicular nerve radiofrequency ablation is an effective treatment for patients with chronic pain due to knee osteoarthritis; however, little is known about factors that predict procedure success. The current study evaluated the utility of genicular nerve blocks to predict the outcome of genicular nerve cooled radiofrequency ablation (cRFA) in patients with osteoarthritis. Methods: This randomized comparative trial included patients with chronic knee pain due to osteoarthritis...
December 28, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/29298245/emergency-medical-responders-and-adolescents-with-autism-spectrum-disorder
#7
Viola Cheung, Madeline L McCarthy, Mark X Cicero, John M Leventhal, Carol Weitzman
OBJECTIVES: Because of the high prevalence of Autism Spectrum Disorder (ASD) and wandering behavior, emergency medical responders (EMRs) will likely encounter children and adolescents with ASD. The objectives were to describe interactions between EMRs and children and adolescents with ASD, to evaluate EMRs' ability to recognize ASD in a simulated trauma setting, and to determine if EMRs' demographic characteristics affected their interactions with ASD youth. METHODS: A study of 75 videos of a simulated school bus crash was performed...
January 2, 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29298049/enhanced-solubilization-of-class-b-radical-s-adenosylmethionine-methylases-by-improved-cobalamin-uptake-in-escherichia-coli
#8
Nicholas Lanz, Anthony J Blaszczyk, Erin McCarthy, Bo Wang, Roy Wang, Brianne Jones, Squire J Booker
The methylation of unactivated carbon and phosphorus centers is a burgeoning area of biological chemistry, especially given that such reactions constitute key steps in the biosynthesis of numerous enzyme cofactors, antibiotics, and other natural products of clinical value. These kinetically challenging reactions are catalyzed exclusively by enzymes in the radical S-adenosylmethionine (SAM) superfamily and have been grouped into four classes: A, B, C, and D. Class B radical SAM (RS) methylases require a cobalamin cofactor in addition to the [4Fe-¬4S] cluster that is characteristic of RS enzymes...
January 3, 2018: Biochemistry
https://www.readbyqxmd.com/read/29284435/influenza-vaccine-effectiveness-against-influenza-related-hospitalization-during-a-season-with-mixed-outbreaks-of-four-influenza-viruses-a-test-negative-case-control-study-in-adults-in-canada
#9
Melissa K Andrew, Vivek Shinde, Todd Hatchette, Ardith Ambrose, Guy Boivin, William Bowie, Ayman Chit, Gael Dos Santos, May ElSherif, Karen Green, François Haguinet, Scott A Halperin, Barbara Ibarguchi, Jennie Johnstone, Kevin Katz, Joanne M Langley, Jason LeBlanc, Mark Loeb, Donna MacKinnon-Cameron, Anne McCarthy, Janet McElhaney, Allison McGeer, Michaela K Nichols, Jeff Powis, David Richardson, Makeda Semret, Grant Stiver, Sylvie Trottier, Louis Valiquette, Duncan Webster, Lingyun Ye, Shelly A McNeil
BACKGROUND: The Serious Outcomes Surveillance (SOS) Network was established to monitor seasonal influenza complications among hospitalized Canadian adults and to assess the effectiveness of influenza vaccination against severe outcomes. Here we report age- and strain-specific vaccine effectiveness (VE) in preventing severe outcomes during a season characterized by mixed outbreaks of four different influenza strains. METHODS: This prospective, multicentre, test-negative case-control study evaluated the VE of trivalent influenza vaccine (TIV) in the prevention of laboratory-confirmed influenza-hospitalization in adults aged ≥16 years (all adults) and adults aged 16-64 years (younger adults)...
December 29, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/29279374/evaluating-the-contribution-of-rare-variants-to-type-2-diabetes-and-related-traits-using-pedigrees
#10
Goo Jun, Alisa Manning, Marcio Almeida, Matthew Zawistowski, Andrew R Wood, Tanya M Teslovich, Christian Fuchsberger, Shuang Feng, Pablo Cingolani, Kyle J Gaulton, Thomas Dyer, Thomas W Blackwell, Han Chen, Peter S Chines, Sungkyoung Choi, Claire Churchhouse, Pierre Fontanillas, Ryan King, SungYoung Lee, Stephen E Lincoln, Vasily Trubetskoy, Mark DePristo, Tasha Fingerlin, Robert Grossman, Jason Grundstad, Alison Heath, Jayoun Kim, Young Jin Kim, Jason Laramie, Jaehoon Lee, Heng Li, Xuanyao Liu, Oren Livne, Adam E Locke, Julian Maller, Alexander Mazur, Andrew P Morris, Toni I Pollin, Derek Ragona, David Reich, Manuel A Rivas, Laura J Scott, Xueling Sim, Rick G Tearle, Yik Ying Teo, Amy L Williams, Sebastian Zöllner, Joanne E Curran, Juan Peralta, Beena Akolkar, Graeme I Bell, Noël P Burtt, Nancy J Cox, Jose C Florez, Craig L Hanis, Catherine McKeon, Karen L Mohlke, Mark Seielstad, James G Wilson, Gil Atzmon, Jennifer E Below, Josée Dupuis, Dan L Nicolae, Donna Lehman, Taesung Park, Sungho Won, Robert Sladek, David Altshuler, Mark I McCarthy, Ravindranath Duggirala, Michael Boehnke, Timothy M Frayling, Gonçalo R Abecasis, John Blangero
A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare variants to the risk of type 2 diabetes (T2D) and related traits, we performed deep whole-genome analysis of 1,034 members of 20 large Mexican-American families with high prevalence of T2D. If rare variants of large effect accounted for much of the diabetes risk in these families, our experiment was powered to detect association...
December 26, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29273807/protein-altering-variants-associated-with-body-mass-index-implicate-pathways-that-control-energy-intake-and-expenditure-in-obesity
#11
Valérie Turcot, Yingchang Lu, Heather M Highland, Claudia Schurmann, Anne E Justice, Rebecca S Fine, Jonathan P Bradfield, Tõnu Esko, Ayush Giri, Mariaelisa Graff, Xiuqing Guo, Audrey E Hendricks, Tugce Karaderi, Adelheid Lempradl, Adam E Locke, Anubha Mahajan, Eirini Marouli, Suthesh Sivapalaratnam, Kristin L Young, Tamuno Alfred, Mary F Feitosa, Nicholas G D Masca, Alisa K Manning, Carolina Medina-Gomez, Poorva Mudgal, Maggie C Y Ng, Alex P Reiner, Sailaja Vedantam, Sara M Willems, Thomas W Winkler, Gonçalo Abecasis, Katja K Aben, Dewan S Alam, Sameer E Alharthi, Matthew Allison, Philippe Amouyel, Folkert W Asselbergs, Paul L Auer, Beverley Balkau, Lia E Bang, Inês Barroso, Lisa Bastarache, Marianne Benn, Sven Bergmann, Lawrence F Bielak, Matthias Blüher, Michael Boehnke, Heiner Boeing, Eric Boerwinkle, Carsten A Böger, Jette Bork-Jensen, Michiel L Bots, Erwin P Bottinger, Donald W Bowden, Ivan Brandslund, Gerome Breen, Murray H Brilliant, Linda Broer, Marco Brumat, Amber A Burt, Adam S Butterworth, Peter T Campbell, Stefania Cappellani, David J Carey, Eulalia Catamo, Mark J Caulfield, John C Chambers, Daniel I Chasman, Yii-Der I Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y Chu, Massimiliano Cocca, Francis S Collins, James P Cook, Janie Corley, Jordi Corominas Galbany, Amanda J Cox, David S Crosslin, Gabriel Cuellar-Partida, Angela D'Eustacchio, John Danesh, Gail Davies, Paul I W Bakker, Mark C H Groot, Renée Mutsert, Ian J Deary, George Dedoussis, Ellen W Demerath, Martin Heijer, Anneke I Hollander, Hester M Ruijter, Joe G Dennis, Josh C Denny, Emanuele Angelantonio, Fotios Drenos, Mengmeng Du, Marie-Pierre Dubé, Alison M Dunning, Douglas F Easton, Todd L Edwards, David Ellinghaus, Patrick T Ellinor, Paul Elliott, Evangelos Evangelou, Aliki-Eleni Farmaki, I Sadaf Farooqi, Jessica D Faul, Sascha Fauser, Shuang Feng, Ele Ferrannini, Jean Ferrieres, Jose C Florez, Ian Ford, Myriam Fornage, Oscar H Franco, Andre Franke, Paul W Franks, Nele Friedrich, Ruth Frikke-Schmidt, Tessel E Galesloot, Wei Gan, Ilaria Gandin, Paolo Gasparini, Jane Gibson, Vilmantas Giedraitis, Anette P Gjesing, Penny Gordon-Larsen, Mathias Gorski, Hans-Jörgen Grabe, Struan F A Grant, Niels Grarup, Helen L Griffiths, Megan L Grove, Vilmundur Gudnason, Stefan Gustafsson, Jeff Haessler, Hakon Hakonarson, Anke R Hammerschlag, Torben Hansen, Kathleen Mullan Harris, Tamara B Harris, Andrew T Hattersley, Christian T Have, Caroline Hayward, Liang He, Nancy L Heard-Costa, Andrew C Heath, Iris M Heid, Øyvind Helgeland, Jussi Hernesniemi, Alex W Hewitt, Oddgeir L Holmen, G Kees Hovingh, Joanna M M Howson, Yao Hu, Paul L Huang, Jennifer E Huffman, M Arfan Ikram, Erik Ingelsson, Anne U Jackson, Jan-Håkan Jansson, Gail P Jarvik, Gorm B Jensen, Yucheng Jia, Stefan Johansson, Marit E Jørgensen, Torben Jørgensen, J Wouter Jukema, Bratati Kahali, René S Kahn, Mika Kähönen, Pia R Kamstrup, Stavroula Kanoni, Jaakko Kaprio, Maria Karaleftheri, Sharon L R Kardia, Fredrik Karpe, Sekar Kathiresan, Frank Kee, Lambertus A Kiemeney, Eric Kim, Hidetoshi Kitajima, Pirjo Komulainen, Jaspal S Kooner, Charles Kooperberg, Tellervo Korhonen, Peter Kovacs, Helena Kuivaniemi, Zoltán Kutalik, Kari Kuulasmaa, Johanna Kuusisto, Markku Laakso, Timo A Lakka, David Lamparter, Ethan M Lange, Leslie A Lange, Claudia Langenberg, Eric B Larson, Nanette R Lee, Terho Lehtimäki, Cora E Lewis, Huaixing Li, Jin Li, Ruifang Li-Gao, Honghuang Lin, Keng-Hung Lin, Li-An Lin, Xu Lin, Lars Lind, Jaana Lindström, Allan Linneberg, Ching-Ti Liu, Dajiang J Liu, Yongmei Liu, Ken S Lo, Artitaya Lophatananon, Andrew J Lotery, Anu Loukola, Jian'an Luan, Steven A Lubitz, Leo-Pekka Lyytikäinen, Satu Männistö, Gaëlle Marenne, Angela L Mazul, Mark I McCarthy, Roberta McKean-Cowdin, Sarah E Medland, Karina Meidtner, Lili Milani, Vanisha Mistry, Paul Mitchell, Karen L Mohlke, Leena Moilanen, Marie Moitry, Grant W Montgomery, Dennis O Mook-Kanamori, Carmel Moore, Trevor A Mori, Andrew D Morris, Andrew P Morris, Martina Müller-Nurasyid, Patricia B Munroe, Mike A Nalls, Narisu Narisu, Christopher P Nelson, Matt Neville, Sune F Nielsen, Kjell Nikus, Pål R Njølstad, Børge G Nordestgaard, Dale R Nyholt, Jeffrey R O'Connel, Michelle L O'Donoghue, Loes M Olde Loohuis, Roel A Ophoff, Katharine R Owen, Chris J Packard, Sandosh Padmanabhan, Colin N A Palmer, Nicholette D Palmer, Gerard Pasterkamp, Aniruddh P Patel, Alison Pattie, Oluf Pedersen, Peggy L Peissig, Gina M Peloso, Craig E Pennell, Markus Perola, James A Perry, John R B Perry, Tune H Pers, Thomas N Person, Annette Peters, Eva R B Petersen, Patricia A Peyser, Ailith Pirie, Ozren Polasek, Tinca J Polderman, Hannu Puolijoki, Olli T Raitakari, Asif Rasheed, Rainer Rauramaa, Dermot F Reilly, Frida Renström, Myriam Rheinberger, Paul M Ridker, John D Rioux, Manuel A Rivas, David J Roberts, Neil R Robertson, Antonietta Robino, Olov Rolandsson, Igor Rudan, Katherine S Ruth, Danish Saleheen, Veikko Salomaa, Nilesh J Samani, Yadav Sapkota, Naveed Sattar, Robert E Schoen, Pamela J Schreiner, Matthias B Schulze, Robert A Scott, Marcelo P Segura-Lepe, Svati H Shah, Wayne H-H Sheu, Xueling Sim, Andrew J Slater, Kerrin S Small, Albert V Smith, Lorraine Southam, Timothy D Spector, Elizabeth K Speliotes, John M Starr, Kari Stefansson, Valgerdur Steinthorsdottir, Kathleen E Stirrups, Konstantin Strauch, Heather M Stringham, Michael Stumvoll, Liang Sun, Praveen Surendran, Amy J Swift, Hayato Tada, Katherine E Tansey, Jean-Claude Tardif, Kent D Taylor, Alexander Teumer, Deborah J Thompson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Betina H Thuesen, Anke Tönjes, Gerard Tromp, Stella Trompet, Emmanouil Tsafantakis, Jaakko Tuomilehto, Anne Tybjaerg-Hansen, Jonathan P Tyrer, Rudolf Uher, André G Uitterlinden, Matti Uusitupa, Sander W Laan, Cornelia M Duijn, Nienke Leeuwen, Jessica van Setten, Mauno Vanhala, Anette Varbo, Tibor V Varga, Rohit Varma, Digna R Velez Edwards, Sita H Vermeulen, Giovanni Veronesi, Henrik Vestergaard, Veronique Vitart, Thomas F Vogt, Uwe Völker, Dragana Vuckovic, Lynne E Wagenknecht, Mark Walker, Lars Wallentin, Feijie Wang, Carol A Wang, Shuai Wang, Yiqin Wang, Erin B Ware, Nicholas J Wareham, Helen R Warren, Dawn M Waterworth, Jennifer Wessel, Harvey D White, Cristen J Willer, James G Wilson, Daniel R Witte, Andrew R Wood, Ying Wu, Hanieh Yaghootkar, Jie Yao, Pang Yao, Laura M Yerges-Armstrong, Robin Young, Eleftheria Zeggini, Xiaowei Zhan, Weihua Zhang, Jing Hua Zhao, Wei Zhao, Wei Zhou, Krina T Zondervan, Jerome I Rotter, John A Pospisilik, Fernando Rivadeneira, Ingrid B Borecki, Panos Deloukas, Timothy M Frayling, Guillaume Lettre, Kari E North, Cecilia M Lindgren, Joel N Hirschhorn, Ruth J F Loos
Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR...
January 2018: Nature Genetics
https://www.readbyqxmd.com/read/29258892/enhanced-repair-of-uv-induced-dna-damage-by-1-25-dihydroxyvitamin-d3-in-skin-is-linked-to-pathways-that-control-cellular-energy
#12
Mark Stephen Rybchyn, Warusavithana Gunawardena Manori De Silva, Vanessa Bernadette Sequeira, Bianca Yuko McCarthy, Anthony Vincent Dilley, Katie Marie Dixon, Gary Mark Halliday, Rebecca Sara Mason
Inadequately repaired post-UV DNA damage results in skin cancers. DNA repair requires energy but skin cells have limited capacity to produce energy after UV insult. We examined whether energy supply is important for DNA repair after UV exposure, in the presence of 1α,25-dihydroxyvitamin D3 (1,25(OH)2D3), which reduces UV-induced DNA damage and photocarcinogenesis in a variety of models. After UV exposure of primary human keratinocytes, the addition of 1,25(OH)2D3 increased unscheduled DNA synthesis, a measure of DNA repair...
December 16, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29246703/evaluation-of-discordance-in-primary-tumor-and-lymph-node-response-after-neoadjuvant-therapy-in-breast-cancer
#13
Christina A Fleming, Karen McCarthy, Ciara Ryan, Aoife McCarthy, Seamus O'Reilly, Deirdre O'Mahony, Tara Jane Browne, Paul Redmond, Mark A Corrigan
BACKGROUND: Neoadjuvant therapy (NAT) offers a unique opportunity to assess tumor response to systemic agents. However, a discrepancy may exist between the response of the primary tumor and involved nodes. We report on the frequency of response discordance after NAT in breast cancer. PATIENTS AND METHODS: All consecutive node-positive patients receiving NAT in our department from 2009 to 2014 were identified. Patient demographics, and radiologic and pathologic features were tabulated...
November 23, 2017: Clinical Breast Cancer
https://www.readbyqxmd.com/read/29209927/hydroxocobalamin-for-the-treatment-of-cardiac-surgery-associated-vasoplegia-a-case-series
#14
Pranav R Shah, Penny S Reynolds, Nirvik Pal, Daniel Tang, Harry McCarthy, Bruce D Spiess
PURPOSE: Vasoplegia is a clinical syndrome marked by severe arteriolar vasodilatation, hypotension, and low systemic vascular resistance refractory to multiple vasopressor treatment. We report our experience with hydroxocobalamin (B12) infusion as a potential rescue adjunct for refractory vasoplegia during cardiopulmonary bypass (CPB). METHODS: We performed a retrospective chart review of 33 patients undergoing cardiac surgery between 1 January 2013 and 31 December 2015, who were given intravenous B12 for refractory hypotension during, or immediately following, CPB...
December 5, 2017: Canadian Journal of Anaesthesia, Journal Canadien D'anesthésie
https://www.readbyqxmd.com/read/29155228/barriers-and-facilitators-to-the-implementation-of-physical-activity-policies-in-schools-a-systematic-review
#15
REVIEW
Nicole Nathan, Ben Elton, Mark Babic, Nicole McCarthy, Rachel Sutherland, Justin Presseau, Kirsty Seward, Rebecca Hodder, Debbie Booth, Sze Lin Yoong, Luke Wolfenden
Research consistently indicates that schools fail to implement mandatory physical activity policies. This review aimed to describe factors (barriers and facilitators) that may influence the implementation of school physical activity policies which specify the time or intensity that physical activity should be implemented and to map these factors to a theoretical framework. A systematic search was undertaken in six databases for quantitative or qualitative studies published between 1995-March 2016 that examined teachers', principals' or school administrators' reported barriers and/or facilitators to implementing mandated school physical activity policies...
November 16, 2017: Preventive Medicine
https://www.readbyqxmd.com/read/29146168/bone-marrow-derived-mesenchymal-stromal-cells-enhanced-by-platelet-rich-plasma-maintain-adhesion-to-scaffolds-in-arthroscopic-simulation
#16
Alexander R Hoberman, Carl Cirino, Mary Beth McCarthy, Mark P Cote, Leo Pauzenberger, Knut Beitzel, Augustus D Mazzocca, Felix Dyrna
PURPOSE: To assess the response of bone marrow-derived mesenchymal stromal cells (bMSCs) enhanced by platelet-rich plasma (PRP) in the setting of a normal human tendon (NHT), a demineralized bone matrix (DBM), and a fibrin scaffold (FS) with simulated arthroscopic mechanical washout stress. METHODS: Bone marrow was aspirated from the humeral head and concentrated. BMSCs were counted, plated, and grown to confluence. Cells were seeded onto 3 different scaffolds: (1) NHT, (2) DBM, and (3) FS...
November 13, 2017: Arthroscopy: the Journal of Arthroscopic & related Surgery
https://www.readbyqxmd.com/read/29139592/single-dose-systemic-acetaminophen-to-improve-patient-reported-quality-of-recovery-after-ambulatory-segmental-mastectomy-a-prospective-randomized-double-blinded-placebo-controlled-clinical-trial
#17
Gildasio S De Oliveira, Meghan E Rodes, Jane Bialek, Mark C Kendall, Robert J McCarthy
Few systemic drug interventions are efficacious to improve patient reported quality of recovery after ambulatory surgery. We aimed to evaluate whether a single dose systemic acetaminophen improve quality of recovery in female patients undergoing ambulatory breast surgery. We hypothesized that patients receiving a single dose systemic acetaminophen at the end of the surgical procedure would have a better global quality of postsurgical recovery compared to the ones receiving saline. The study was a prospective randomized double blinded, placebo controlled, clinical trial...
November 15, 2017: Breast Journal
https://www.readbyqxmd.com/read/29125689/resource-utilization-and-cost-of-influenza-requiring-hospitalization-in-canadian-adults-a-study-from-the-serious-outcomes-surveillance-network-of-the-canadian-immunization-research-network
#18
Carita Ng, Lingyun Ye, Stephen G Noorduyn, Margaret Hux, Edward Thommes, Ron Goeree, Ardith Ambrose, Melissa K Andrew, Todd Hatchette, Guy Boivin, William Bowie, May ElSherif, Karen Green, Jennie Johnstone, Kevin Katz, Jason Leblanc, Mark Loeb, Donna MacKinnon-Cameron, Anne McCarthy, Janet McElhaney, Allison McGeer, Andre Poirier, Jeff Powis, David Richardson, Rohita Sharma, Makeda Semret, Stephanie Smith, Daniel Smyth, Grant Stiver, Sylvie Trottier, Louis Valiquette, Duncan Webster, Shelly A McNeil
BACKGROUND: Consideration of cost determinants is crucial to inform delivery of public vaccination programs. OBJECTIVES: To estimate the average total cost of laboratory-confirmed influenza requiring hospitalization in Canadians prior to, during, and 30 days following discharge. To analyze effects of patient/disease characteristics, treatment, and regional differences in costs. METHODS: Study utilized previously recorded clinical characteristics, resource use, and outcomes of laboratory-confirmed influenza patients admitted to hospitals in the Serious Outcomes Surveillance (SOS), Canadian Immunization Research Network (CIRN), from 2010/11 - 2012/13...
November 10, 2017: Influenza and Other Respiratory Viruses
https://www.readbyqxmd.com/read/29123192/targeted-mitochondrial-therapy-using-mitoq-shows-equivalent-renoprotection-to-angiotensin-converting-enzyme-inhibition-but-no-combined-synergy-in-diabetes
#19
Micheal S Ward, Nicole B Flemming, Linda A Gallo, Amelia K Fotheringham, Domenica A McCarthy, Aowen Zhuang, Peter H Tang, Danielle J Borg, Hannah Shaw, Benjamin Harvie, David R Briskey, Llion A Roberts, Manuel R Plan, Michael P Murphy, Mark P Hodson, Josephine M Forbes
Mitochondrial dysfunction is a pathological mediator of diabetic kidney disease (DKD). Our objective was to test the mitochondrially targeted agent, MitoQ, alone and in combination with first line therapy for DKD. Intervention therapies (i) vehicle (D); (ii) MitoQ (DMitoQ;0.6 mg/kg/day); (iii) Ramipril (DRam;3 mg/kg/day) or (iv) combination (DCoAd) were administered to male diabetic db/db mice for 12 weeks (n = 11-13/group). Non-diabetic (C) db/m mice were followed concurrently. No therapy altered glycaemic control or body weight...
November 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29121268/association-of-polygenic-score-for-schizophrenia-and-hla-antigen-and-inflammation-genes-with-response-to-lithium-in-bipolar-affective-disorder-a-genome-wide-association-study
#20
Azmeraw T Amare, Klaus Oliver Schubert, Liping Hou, Scott R Clark, Sergi Papiol, Urs Heilbronner, Franziska Degenhardt, Fasil Tekola-Ayele, Yi-Hsiang Hsu, Tatyana Shekhtman, Mazda Adli, Nirmala Akula, Kazufumi Akiyama, Raffaella Ardau, Bárbara Arias, Jean-Michel Aubry, Lena Backlund, Abesh Kumar Bhattacharjee, Frank Bellivier, Antonio Benabarre, Susanne Bengesser, Joanna M Biernacka, Armin Birner, Clara Brichant-Petitjean, Pablo Cervantes, Hsi-Chung Chen, Caterina Chillotti, Sven Cichon, Cristiana Cruceanu, Piotr M Czerski, Nina Dalkner, Alexandre Dayer, Maria Del Zompo, J Raymond DePaulo, Bruno Étain, Peter Falkai, Andreas J Forstner, Louise Frisen, Mark A Frye, Janice M Fullerton, Sébastien Gard, Julie S Garnham, Fernando S Goes, Maria Grigoroiu-Serbanescu, Paul Grof, Ryota Hashimoto, Joanna Hauser, Stefan Herms, Per Hoffmann, Andrea Hofmann, Stephane Jamain, Esther Jiménez, Jean-Pierre Kahn, Layla Kassem, Po-Hsiu Kuo, Tadafumi Kato, John Kelsoe, Sarah Kittel-Schneider, Sebastian Kliwicki, Barbara König, Ichiro Kusumi, Gonzalo Laje, Mikael Landén, Catharina Lavebratt, Marion Leboyer, Susan G Leckband, Alfonso Tortorella, Mirko Manchia, Lina Martinsson, Michael J McCarthy, Susan McElroy, Francesc Colom, Marina Mitjans, Francis M Mondimore, Palmiero Monteleone, Caroline M Nievergelt, Markus M Nöthen, Tomas Novák, Claire O'Donovan, Norio Ozaki, Urban Ösby, Andrea Pfennig, James B Potash, Andreas Reif, Eva Reininghaus, Guy A Rouleau, Janusz K Rybakowski, Martin Schalling, Peter R Schofield, Barbara W Schweizer, Giovanni Severino, Paul D Shilling, Katzutaka Shimoda, Christian Simhandl, Claire M Slaney, Alessio Squassina, Thomas Stamm, Pavla Stopkova, Mario Maj, Gustavo Turecki, Eduard Vieta, Julia Volkert, Stephanie Witt, Adam Wright, Peter P Zandi, Philip B Mitchell, Michael Bauer, Martin Alda, Marcella Rietschel, Francis J McMahon, Thomas G Schulze, Bernhard T Baune
Importance: Lithium is a first-line mood stabilizer for the treatment of bipolar affective disorder (BPAD). However, the efficacy of lithium varies widely, with a nonresponse rate of up to 30%. Biological response markers are lacking. Genetic factors are thought to mediate treatment response to lithium, and there is a previously reported genetic overlap between BPAD and schizophrenia (SCZ). Objectives: To test whether a polygenic score for SCZ is associated with treatment response to lithium in BPAD and to explore the potential molecular underpinnings of this association...
November 9, 2017: JAMA Psychiatry
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