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Polygenic association between attention-deficit/hyperactivity disorder liability and cognitive impairments
- Isabella Vainieri, Joanna Martin, Anna-Sophie Rommel, Philip Asherson, Tobias Banaschewski, Jan Buitelaar, Bru Cormand, Jennifer Crosbie, Stephen V. Faraone, Barbara Franke, Sandra K. Loo, Ana Miranda, Iris Manor, Robert D. Oades, Kirstin L. Purves, J. Antoni Ramos-Quiroga, Marta Ribasés, Herbert Roeyers, Aribert Rothenberger, Russell Schachar, Joseph Sergeant, Hans-Christoph Steinhausen, Pieter J. Vuijk, Alysa E. Doyle, Jonna Kuntsi
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- Journal:
- Psychological Medicine / Volume 52 / Issue 14 / October 2022
- Published online by Cambridge University Press:
- 03 February 2021, pp. 3150-3158
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Background
A recent genome-wide association study (GWAS) identified 12 independent loci significantly associated with attention-deficit/hyperactivity disorder (ADHD). Polygenic risk scores (PRS), derived from the GWAS, can be used to assess genetic overlap between ADHD and other traits. Using ADHD samples from several international sites, we derived PRS for ADHD from the recent GWAS to test whether genetic variants that contribute to ADHD also influence two cognitive functions that show strong association with ADHD: attention regulation and response inhibition, captured by reaction time variability (RTV) and commission errors (CE).
MethodsThe discovery GWAS included 19 099 ADHD cases and 34 194 control participants. The combined target sample included 845 people with ADHD (age: 8–40 years). RTV and CE were available from reaction time and response inhibition tasks. ADHD PRS were calculated from the GWAS using a leave-one-study-out approach. Regression analyses were run to investigate whether ADHD PRS were associated with CE and RTV. Results across sites were combined via random effect meta-analyses.
ResultsWhen combining the studies in meta-analyses, results were significant for RTV (R2 = 0.011, β = 0.088, p = 0.02) but not for CE (R2 = 0.011, β = 0.013, p = 0.732). No significant association was found between ADHD PRS and RTV or CE in any sample individually (p > 0.10).
ConclusionsWe detected a significant association between PRS for ADHD and RTV (but not CE) in individuals with ADHD, suggesting that common genetic risk variants for ADHD influence attention regulation.
Integration of genomic and clinical data augments surveillance of healthcare-acquired infections
- Doyle V. Ward, Andrew G. Hoss, Raivo Kolde, Helen C. van Aggelen, Joshua Loving, Stephen A. Smith, Deborah A. Mack, Raja Kathirvel, Jeffery A. Halperin, Douglas J. Buell, Brian E. Wong, Judy L. Ashworth, Mary M. Fortunato-Habib, Liyi Xu, Bruce A. Barton, Peter Lazar, Juan J. Carmona, Jomol Mathew, Ivan S. Salgo, Brian D. Gross, Richard T. Ellison III
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- Journal:
- Infection Control & Hospital Epidemiology / Volume 40 / Issue 6 / June 2019
- Published online by Cambridge University Press:
- 23 April 2019, pp. 649-655
- Print publication:
- June 2019
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Background:
Determining infectious cross-transmission events in healthcare settings involves manual surveillance of case clusters by infection control personnel, followed by strain typing of clinical/environmental isolates suspected in said clusters. Recent advances in genomic sequencing and cloud computing now allow for the rapid molecular typing of infecting isolates.
Objective:To facilitate rapid recognition of transmission clusters, we aimed to assess infection control surveillance using whole-genome sequencing (WGS) of microbial pathogens to identify cross-transmission events for epidemiologic review.
Methods:Clinical isolates of Staphylococcus aureus, Enterococcus faecium, Pseudomonas aeruginosa, and Klebsiella pneumoniae were obtained prospectively at an academic medical center, from September 1, 2016, to September 30, 2017. Isolate genomes were sequenced, followed by single-nucleotide variant analysis; a cloud-computing platform was used for whole-genome sequence analysis and cluster identification.
Results:Most strains of the 4 studied pathogens were unrelated, and 34 potential transmission clusters were present. The characteristics of the potential clusters were complex and likely not identifiable by traditional surveillance alone. Notably, only 1 cluster had been suspected by routine manual surveillance.
Conclusions:Our work supports the assertion that integration of genomic and clinical epidemiologic data can augment infection control surveillance for both the identification of cross-transmission events and the inclusion of missed and exclusion of misidentified outbreaks (ie, false alarms). The integration of clinical data is essential to prioritize suspect clusters for investigation, and for existing infections, a timely review of both the clinical and WGS results can hold promise to reduce HAIs. A richer understanding of cross-transmission events within healthcare settings will require the expansion of current surveillance approaches.
Cross-Disorder Cognitive Impairments in Youth Referred for Neuropsychiatric Evaluation
- Alysa E. Doyle, Pieter J. Vuijk, Nathan D. Doty, Lauren M. McGrath, Brian L. Willoughby, Ellen H. O’Donnell, H. Kent Wilson, Mary K. Colvin, Deanna C. Toner, Kelsey E. Hudson, Jessica E. Blais, Hillary L. Ditmars, Stephen V. Faraone, Larry J. Seidman, Ellen B. Braaten
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- Journal:
- Journal of the International Neuropsychological Society / Volume 24 / Issue 1 / January 2018
- Published online by Cambridge University Press:
- 04 August 2017, pp. 91-103
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Objectives: Studies suggest that impairments in some of the same domains of cognition occur in different neuropsychiatric conditions, including those known to share genetic liability. Yet, direct, multi-disorder cognitive comparisons are limited, and it remains unclear whether overlapping deficits are due to comorbidity. We aimed to extend the literature by examining cognition across different neuropsychiatric conditions and addressing comorbidity. Methods: Subjects were 486 youth consecutively referred for neuropsychiatric evaluation and enrolled in the Longitudinal Study of Genetic Influences on Cognition. First, we assessed general ability, reaction time variability (RTV), and aspects of executive functions (EFs) in youth with non-comorbid forms of attention-deficit/hyperactivity disorder (ADHD), mood disorders and autism spectrum disorder (ASD), as well as in youth with psychosis. Second, we determined the impact of comorbid ADHD on cognition in youth with ASD and mood disorders. Results: For EFs (working memory, inhibition, and shifting/ flexibility), we observed weaknesses in all diagnostic groups when participants’ own ability was the referent. Decrements were subtle in relation to published normative data. For RTV, weaknesses emerged in youth with ADHD and mood disorders, but trend-level results could not rule out decrements in other conditions. Comorbidity with ADHD did not impact the pattern of weaknesses for youth with ASD or mood disorders but increased the magnitude of the decrement in those with mood disorders. Conclusions: Youth with ADHD, mood disorders, ASD, and psychosis show EF weaknesses that are not due to comorbidity. Whether such cognitive difficulties reflect genetic liability shared among these conditions requires further study. (JINS, 2018, 24, 91–103)
Contributors
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- By Timothy Beach, Steven Bozarth, Palma J. Buttles, Christopher Carr, Dana Cavallaro, James Doyle, Jonathan Flood, Lee Florea, Thomas G. Garrison, Liwy Grazioso Sierra, Robert E. Griffin, Angela Hood, Stephen Houston, Gerald Islebe, John G. Jones, Brian Lane, Zachary Larsen, Sheryl Luzzadder-Beach, Kevin Magee, Timothy Murtha, Carmen E. Ramos, Edwin Román, Payson Sheets, Kenneth B. Tankersley, Richard E. Terry, Kim M. Thompson, Fred Valdez, Eric Weaver, David Webster
- Edited by David L. Lentz, University of Cincinnati, Nicholas P. Dunning, University of Cincinnati, Vernon L. Scarborough, University of Cincinnati
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- Book:
- Tikal
- Published online:
- 05 February 2015
- Print publication:
- 23 February 2015, pp xiii-xvi
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- By Alaa A. Abd-Elsayed, Basem Abdelmalak, Kalil G. Abdullah, Maged Argalious, Rafi Avitsian, Maria Bauer, Edward C. Benzel, Dani S. Bidros, William Bingaman, Jay B. Brodsky, David Brown, Patrick M. Callahan, Juan P. Cata, Chakorn Chansakul, Jianguo Cheng, Jeffrey G. Clark, Peter J. Davis, Stacie Deiner, Xiao Di, Karen B. Domino, D. John Doyle, Zeyd Ebrahim, Ehab Farag, Gordon Finlayson, Elizabeth A. M. Frost, Matthew Grosso, David P. Gurd, Rodolfo Hakim, Robert Helfand, Iain H. Kalfas, Rami Karroum, Michael Kelly, Stephen J. Kimatian, Christian Koopman, Ajit A. Krishnaney, Andrea Kurz, Lorri A. Lee, Brian P. Lemkuil, James K. C. Liu, Sara P. Lozano, Daniel Lubelski, Mark Luciano, Ramez Malaty, Mariel R. Manlapaz, Edward M. Manno, Virgilio Matheus, Robert F. McLain, Nagy Mekhail, Doksu Moon, Loran Soliman Mounir, Raghu Mudumbai, Thomas E. Mroz, Dileep R. Nair, Julie Niezgoda, R. Douglas Orr, Piyush M. Patel, Jason E. Pope, Manuel Saavedra, Kenneth J. Saliba, Richard Schlenk, John Seif, John H. Shin, Jeffrey Silverstein, Dmitri Souzdalnitski, Michael Steinmetz, Tunga Suresh, John E. Tetzlaff, Sherif Zaky
- Edited by Ehab Farag
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- Anesthesia for Spine Surgery
- Published online:
- 05 June 2012
- Print publication:
- 17 May 2012, pp ix-xii
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Structure-property-function relationships in triple-helical collagen hydrogels
- Giuseppe Tronci, Amanda Doyle, Stephen J. Russell, David J. Wood
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- Journal:
- MRS Online Proceedings Library Archive / Volume 1498 / 2013
- Published online by Cambridge University Press:
- 18 December 2012, pp. 145-150
- Print publication:
- 2013
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In order to establish defined biomimetic systems, type I collagen was functionalised with 1,3-Phenylenediacetic acid (Ph) as aromatic, bifunctional segment. Following investigation on molecular organization and macroscopic properties, material functionalities, i.e. degradability and bioactivity, were addressed, aiming at elucidating the potential of this collagen system as mineralization template. Functionalised collagen hydrogels demonstrated a preserved triple helix conformation. Decreased swelling ratio and increased thermo-mechanical properties were observed in comparison to state-of-the-art carbodiimide (EDC)-crosslinked collagen controls. Ph-crosslinked samples displayed no optical damage and only a slight mass decrease (∼ 4 wt.-%) following 1-week incubation in simulated body fluid (SBF), while nearly 50 wt.-% degradation was observed in EDC-crosslinked collagen. SEM/EDS revealed amorphous mineral deposition, whereby increased calcium phosphate ratio was suggested in hydrogels with increased Ph content. This investigation provides valuable insights for the synthesis of triple helical collagen materials with enhanced macroscopic properties and controlled degradation. In light of these features, this system will be applied for the design of tissue-like scaffolds for mineralized tissue formation.
Contributors
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- By Aakash Agarwala, Linda S. Aglio, Rae M. Allain, Paul D. Allen, Houman Amirfarzan, Yasodananda Kumar Areti, Amit Asopa, Edwin G. Avery, Patricia R. Bachiller, Angela M. Bader, Rana Badr, Sibinka Bajic, David J. Baker, Sheila R. Barnett, Rena Beckerly, Lorenzo Berra, Walter Bethune, Sascha S. Beutler, Tarun Bhalla, Edward A. Bittner, Jonathan D. Bloom, Alina V. Bodas, Lina M. Bolanos-Diaz, Ruma R. Bose, Jan Boublik, John P. Broadnax, Jason C. Brookman, Meredith R. Brooks, Roland Brusseau, Ethan O. Bryson, Linda A. Bulich, Kenji Butterfield, William R. Camann, Denise M. Chan, Theresa S. Chang, Jonathan E. Charnin, Mark Chrostowski, Fred Cobey, Adam B. Collins, Mercedes A. Concepcion, Christopher W. Connor, Bronwyn Cooper, Jeffrey B. Cooper, Martha Cordoba-Amorocho, Stephen B. Corn, Darin J. Correll, Gregory J. Crosby, Lisa J. Crossley, Deborah J. Culley, Tomas Cvrk, Michael N. D'Ambra, Michael Decker, Daniel F. Dedrick, Mark Dershwitz, Francis X. Dillon, Pradeep Dinakar, Alimorad G. Djalali, D. John Doyle, Lambertus Drop, Ian F. Dunn, Theodore E. Dushane, Sunil Eappen, Thomas Edrich, Jesse M. Ehrenfeld, Jason M. Erlich, Lucinda L. Everett, Elliott S. Farber, Khaldoun Faris, Eddy M. Feliz, Massimo Ferrigno, Richard S. Field, Michael G. Fitzsimons, Hugh L. Flanagan Jr., Vladimir Formanek, Amanda A. Fox, John A. Fox, Gyorgy Frendl, Tanja S. Frey, Samuel M. Galvagno Jr., Edward R. Garcia, Jonathan D. Gates, Cosmin Gauran, Brian J. Gelfand, Simon Gelman, Alexander C. Gerhart, Peter Gerner, Omid Ghalambor, Christopher J. Gilligan, Christian D. Gonzalez, Noah E. Gordon, William B. Gormley, Thomas J. Graetz, Wendy L. Gross, Amit Gupta, James P. Hardy, Seetharaman Hariharan, Miriam Harnett, Philip M. Hartigan, Joaquim M. Havens, Bishr Haydar, Stephen O. Heard, James L. Helstrom, David L. Hepner, McCallum R. Hoyt, Robert N. Jamison, Karinne Jervis, Stephanie B. Jones, Swaminathan Karthik, Richard M. Kaufman, Shubjeet Kaur, Lee A. Kearse Jr., John C. Keel, Scott D. Kelley, Albert H. Kim, Amy L. Kim, Grace Y. Kim, Robert J. Klickovich, Robert M. Knapp, Bhavani S. Kodali, Rahul Koka, Alina Lazar, Laura H. Leduc, Stanley Leeson, Lisa R. Leffert, Scott A. LeGrand, Patricio Leyton, J. Lance Lichtor, John Lin, Alvaro A. Macias, Karan Madan, Sohail K. Mahboobi, Devi Mahendran, Christine Mai, Sayeed Malek, S. Rao Mallampati, Thomas J. Mancuso, Ramon Martin, Matthew C. Martinez, J. A. Jeevendra Martyn, Kai Matthes, Tommaso Mauri, Mary Ellen McCann, Shannon S. McKenna, Dennis J. McNicholl, Abdel-Kader Mehio, Thor C. Milland, Tonya L. K. Miller, John D. Mitchell, K. Annette Mizuguchi, Naila Moghul, David R. Moss, Ross J. Musumeci, Naveen Nathan, Ju-Mei Ng, Liem C. Nguyen, Ervant Nishanian, Martina Nowak, Ala Nozari, Michael Nurok, Arti Ori, Rafael A. Ortega, Amy J. Ortman, David Oxman, Arvind Palanisamy, Carlo Pancaro, Lisbeth Lopez Pappas, Benjamin Parish, Samuel Park, Deborah S. Pederson, Beverly K. Philip, James H. Philip, Silvia Pivi, Stephen D. Pratt, Douglas E. Raines, Stephen L. Ratcliff, James P. Rathmell, J. Taylor Reed, Elizabeth M. Rickerson, Selwyn O. Rogers Jr., Thomas M. Romanelli, William H. Rosenblatt, Carl E. Rosow, Edgar L. Ross, J. Victor Ryckman, Mônica M. Sá Rêgo, Nicholas Sadovnikoff, Warren S. Sandberg, Annette Y. Schure, B. Scott Segal, Navil F. Sethna, Swapneel K. Shah, Shaheen F. Shaikh, Fred E. Shapiro, Torin D. Shear, Prem S. Shekar, Stanton K. Shernan, Naomi Shimizu, Douglas C. Shook, Kamal K. Sikka, Pankaj K. Sikka, David A. Silver, Jeffrey H. Silverstein, Emily A. Singer, Ken Solt, Spiro G. Spanakis, Wolfgang Steudel, Matthias Stopfkuchen-Evans, Michael P. Storey, Gary R. Strichartz, Balachundhar Subramaniam, Wariya Sukhupragarn, John Summers, Shine Sun, Eswar Sundar, Sugantha Sundar, Neelakantan Sunder, Faraz Syed, Usha B. Tedrow, Nelson L. Thaemert, George P. Topulos, Lawrence C. Tsen, Richard D. Urman, Charles A. Vacanti, Francis X. Vacanti, Joshua C. Vacanti, Assia Valovska, Ivan T. Valovski, Mary Ann Vann, Susan Vassallo, Anasuya Vasudevan, Kamen V. Vlassakov, Gian Paolo Volpato, Essi M. Vulli, J. Matthias Walz, Jingping Wang, James F. Watkins, Maxwell Weinmann, Sharon L. Wetherall, Mallory Williams, Sarah H. Wiser, Zhiling Xiong, Warren M. Zapol, Jie Zhou
- Edited by Charles Vacanti, Scott Segal, Pankaj Sikka, Richard Urman
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- Book:
- Essential Clinical Anesthesia
- Published online:
- 05 January 2012
- Print publication:
- 11 July 2011, pp xv-xxviii
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Contributors
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- By Basem Abdelmalak, Joseph Abdelmalak, Alaa A. Abd-Elsayed, David L. Adams, Eric E. Adelman, Maged Argalious, Endrit Bala, Gene H. Barnett, Sheron Beltran, Andrew Bielaczyc, William Bingaman, James M. Blum, Alina Bodas, Vera Borzova, Richard Bowers, Adam Brown, Chad M. Brummett, Alexandra S. Bullough, James F. Burke, Juan P. Cata, Neeraj Chaudhary, Michael J. Claybon, Miguel Cruz, Milind Deogaonkar, Vikram Dhawan, Thomas Didier, D. John Doyle, Zeyd Ebrahim, Hesham Elsharkawy, Wael Ali Sakr Esa, Ehab Farag, Ryen D. Fons, Joseph J. Gemmete, Matt Giles, Phil Gillen, Goodarz Golmirzaie, Marcos Gomes, Lisa Grilly, Maged Guirguis, David W. Healy, Heather Hervey-Jumper, Shawn L. Hervey-Jumper, Paul E. Hilliard, Samuel A. Irefin, George K. Istaphanous, Teresa L. Jacobs, Ellen Janke, Greta Jo, James W. Jones, Rami Karroum, Allen Keebler, Stephen J. Kimatian, Colleen G. Koch, Robert Scott Kriss, Andrea Kurz, Jia Lin, Michael D. Maile, Negmeldeen F. Mamoun, Mariel Manlapaz, Edward Manno, Donn Marciniak, Piyush Mathur, Nicholas F. Marko, Matthew Martin, George A. Mashour, Marco Maurtua, Scott T. McCardle, Julie McClelland, Uma Menon, Paul S. Moor, Laurel E. Moore, Ruairi Moulding, Dileep R. Nair, Todd Nelson, Julie Niezgoda, Edward Noguera, Jerome O’Hara, Aditya S. Pandey, Mauricio Perilla, Paul Picton, Marc J. Popovich, J. Javier Provencio, Venkatakrishna Rajajee, Mohit Rastogi, Stacy Ritzman, Lauryn R. Rochlen, Leif Saager, Vivek Sabharwal, Oren Sagher, Kenneth Saliba, Milad Sharifpour, Lesli E. Skolarus, Paul Smythe, Wolf H. Stapelfeldt, William R. Stetler, Peter Stiles, Vijay Tarnal, Khoi D. Than, B. Gregory Thompson, Alparslan Turan, Christopher R. Turner, Justin Upp, Sumeet Vadera, Jennifer Vance, Anthony C. Wang, Robert J. Weil, Marnie B. Welch, Karen K. Wilkins, Erin S. Williams, George N. Youssef, Asma Zakaria, Sherif S. Zaky, Andrew Zura
- Edited by George A. Mashour, Ehab Farag
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- Book:
- Case Studies in Neuroanesthesia and Neurocritical Care
- Published online:
- 03 May 2011
- Print publication:
- 03 February 2011, pp x-xvi
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Neuropsychological functioning in relatives of girls with and without ADHD
- ALYSA E. DOYLE, JOSEPH BIEDERMAN, LARRY J. SEIDMAN, JENNIFER J. RESKE-NIELSEN, STEPHEN V. FARAONE
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- Journal:
- Psychological Medicine / Volume 35 / Issue 8 / August 2005
- Published online by Cambridge University Press:
- 24 February 2005, pp. 1121-1132
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Background. A limited number of studies have examined neuropsychological functioning in the family members of ADHD youth, and none have focused exclusively on relatives of females.
Method. Structured diagnostic interviews and neuropsychological batteries were administered to parents and siblings enrolled in a family study of girls with and without ADHD. Relatives were stratified into three groups: relatives of DSM-IV ADHD probands with ADHD (n=106), relatives of ADHD probands without ADHD (n=189) and relatives of controls without ADHD (n=243). Analyses were also conducted on a subgroup of families in which more than one member had ADHD.
Results. The neuropsychological battery as a whole distinguished affected and unaffected ADHD relatives from controls. The Wechsler Oral Arithmetic subtest, the Stroop Word, Color and Color-Word subscales were impaired in affected ADHD relatives, as were the WRAT-R Arithmetic and Reading subtests. Only the Stroop Color-Word and Interference subtests and the WRAT-R Arithmetic subtest showed significant impairments in unaffected relatives. In multiplex families, additional impairments were found in unaffected relatives on the Stroop Color subtest and the Wechsler Oral Arithmetic subtest. Analyses based on DSM-III-R diagnoses produced nearly identical results. Minor differences emerged across relatives of probands with different DSM-IV subtypes.
Conclusions. Data were consistent with our previous study of relatives of boys with ADHD. Neuropsychological impairments in relatives of female ADHD probands were primarily associated with the diagnosis of ADHD, but subtle cognitive impairments that index familial vulnerability to the disorder may exist.
Remarks By: Robert S. Rendell
- Robert S. Rendell, Stephen J. Doyle, Robert O’Sullivan, Rutsel S. J. Martha, Stephen Zamora, Ronald A. Brand
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- Journal:
- Proceedings of the ASIL Annual Meeting / Volume 81 / 1987
- Published online by Cambridge University Press:
- 28 February 2017, pp. 543-550
- Print publication:
- 1987
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