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Ceres Fernandez-Rozadilla, Maria Timofeeva, Zhishan Chen, Philip Law, Minta Thomas, Stephanie Schmit, Virginia Díez-Obrero, Li Hsu, Juan Fernandez-Tajes, Claire Palles, Kitty Sherwood, Sarah Briggs, Victoria Svinti, Kevin Donnelly, Susan Farrington, James Blackmur, Peter Vaughan-Shaw, Xiao-Ou Shu, Jirong Long, Qiuyin Cai, Xingyi Guo, Yingchang Lu, Peter Broderick, James Studd, Jeroen Huyghe, Tabitha Harrison, David Conti, Christopher Dampier, Mathew Devall, Fredrick Schumacher, Marilena Melas, Gad Rennert, Mireia Obón-Santacana, Vicente Martín-Sánchez, Ferran Moratalla-Navarro, Jae Hwan Oh, Jeongseon Kim, Sun Ha Jee, Keum Ji Jung, Sun-Seog Kweon, Min-Ho Shin, Aesun Shin, Yoon-Ok Ahn, Dong-Hyun Kim, Isao Oze, Wanqing Wen, Keitaro Matsuo, Koichi Matsuda, Chizu Tanikawa, Zefang Ren, Yu-Tang Gao, Wei-Hua Jia, John Hopper, Mark Jenkins, Aung Ko Win, Rish Pai, Jane Figueiredo, Robert Haile, Steven Gallinger, Michael Woods, Polly Newcomb, David Duggan, Jeremy Cheadle, Richard Kaplan, Timothy Maughan, Rachel Kerr, David Kerr, Iva Kirac, Jan Böhm, Lukka-Pekka Mecklin, Pekka Jousilahti, Paul Knekt, Lauri Aaltonen, Harri Rissanen, Eero Pukkala, Johan Eriksson, Tatiana Cajuso, Ulrika Hänninen, Johanna Kondelin, Kimmo Palin, Tomas Tanskanen, Laura Renkonen-Sinisalo, Brent Zanke, Satu Männistö, Demetrius Albanes, Stephanie Weinstein, Edward Ruiz-Narvaez, Julie Palmer, Daniel Buchanan, Elizabeth Platz, Kala Visvanathan, Cornelia Ulrich, Erin Siegel, Stefanie Brezina, Andrea Gsur, Peter Campbell, Jenny Chang-Claude, Michael Hoffmeister, Hermann Brenner, Martha Slattery, John Potter, Konstantinos Tsilidis, Matthias Schulze, Marc Gunter, Neil Murphy, Antoni Castells, Sergi Castellví-Bel, Leticia Moreira, Volker Arndt, Anna Shcherbina, Mariana Stern, Bens Pardamean, Timothy Bishop, Graham Giles, Melissa Southey, Gregory Idos, Kevin McDonnell, Zomoroda Abu-Ful, Joel Greenson, Katerina Shulman, Flavio Lejbkowicz, Kenneth Offit, Yu-Ru Su, Robert Steinfelder, Temitope Keku, Bethany van Guelpen, Thomas Hudson, Heather Hampel, Rachel Pearlman, Sonja Berndt, Richard Hayes, Marie Elena Martinez, Sushma Thomas, Douglas Corley, Paul Pharoah, Susanna Larsson, Yun Yen, Heinz-Josef Lenz, Emily White, Li Li, Kimberly Doheny, Elizabeth Pugh, Tameka Shelford, Andrew Chan, Marcia Cruz-Correa, Annika Lindblom, David Hunter, Amit Joshi, Clemens Schafmayer, Peter Scacheri, Anshul Kundaje, Deborah Nickerson, Robert Schoen, Jochen Hampe, Zsofia Stadler, Pavel Vodicka, Ludmila Vodickova, Veronika Vymetalkova, Nickolas Papadopoulos, Chistopher Edlund, William Gauderman, Duncan Thomas, David Shibata, Amanda Toland, Sanford Markowitz, Andre Kim, Stephen Chanock, Franzel van Duijnhoven, Edith Feskens, Lori Sakoda, Manuela Gago-Dominguez, Alicja Wolk, Alessio Naccarati, Barbara Pardini, Liesel FitzGerald, Soo Chin Lee, Shuji Ogino, Stephanie Bien, Charles Kooperberg, Christopher Li, Yi Lin, Ross Prentice, Conghui Qu, Stéphane Bézieau, Catherine Tangen, Elaine Mardis, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Christopher Haiman, Loic Le Marchand, Anna Wu, Chenxu Qu, Caroline McNeil, Gerhard Coetzee, Caroline Hayward, Ian Deary, Sarah Harris, Evropi Theodoratou, Stuart Reid, Marion Walker, Li Yin Ooi, Victor Moreno, Graham Casey, Stephen Gruber, Ian Tomlinson, Wei Zheng, Malcolm Dunlop, Richard Houlston, Ulrike Peters
No abstract text is available yet for this article.
February 13, 2023: Nature Genetics
#22
JOURNAL ARTICLE
Richard Allman, Yi Mu, Gillian S Dite, Erika Spaeth, John L Hopper, Bernard A Rosner
PURPOSE: We compared a simple breast cancer risk prediction model, BRISK (which includes mammographic density, polygenic risk and clinical factors), against a similar model with more risk factors (simplified Rosner) and against two commonly used clinical models (Gail and IBIS). METHODS: Using nested case-control data from the Nurses' Health Study, we compared the models' association, discrimination and calibration. Classification performance was compared between Gail and BRISK for 5-year risks and between IBIS and BRISK for remaining lifetime risk...
February 7, 2023: Breast Cancer Research and Treatment
#23
JOURNAL ARTICLE
Richard W F Breakey, Ezgi Mercan, Lara S van de Lande, Jai Sidpra, Craig Birgfeld, Amy Lee, Silvia Schievano, David J Dunaway, N Owase Jeelani, Richard A Hopper
INTRODUCTION: Timing of posterior cranial expansion for the management of intracranial pressure can be 'staged' by age and dysmorphology or 'expectant' by pressure monitoring. We report shared outcome measures from one center performing posterior vault remodeling (PCVR) or distraction (PVDO) following a 'staged' approach and another performing spring assisted expansion (SAPVE) following an 'expectant' protocol. METHODS: Apert or Crouzon syndrome cases who underwent posterior expansion less than two years old were included...
November 22, 2022: Plastic and Reconstructive Surgery
#24
JOURNAL ARTICLE
Benjamin B Massenburg, Ezgi Mercan, Elizabeth Shepard, Craig B Birgfeld, Srinivas M Susarla, Amy Lee, Richard G Ellenbogen, Richard A Hopper
PURPOSE: This study aims to quantify the change in three-dimensional skull morphometrics for patients with sagittal synostosis (SS) at presentation, after surgery, and at two-year follow-up. METHODS: CT scans from 91 patients with isolated SS were age, gender, and race-matched to 273 controls. We performed vector analysis with linear regressions to model the impact of open middle and posterior cranial vault remodeling on cranial shape and growth. RESULTS: Anterior cranial volume, bossing angle and frontal shape were not changed by surgery but normalized without surgical intervention by 2 years...
December 9, 2022: Plastic and Reconstructive Surgery
#25
JOURNAL ARTICLE
Andy Nguyen, Chad Purnell, Ezgi Mercan, Amy Lee, Craig B Birgfeld, Srinivas Susarla, Richard G Ellenbogen, Richard A Hopper
BACKGROUND: The purpose was to quantify change in cranial morphology in non-syndromic unilateral lambdoid craniosynostosis (ULC) patients from presentation (t0), after open posterior switch-cranioplasty (t1), and at two-year follow-up (t2). METHODS: Volumetric, linear and angular analysis were performed on computed tomographic scans at the three timepoints and against normal controls. Significance was set at p<0.05. RESULTS: Twenty-two patients were included...
January 24, 2023: Plastic and Reconstructive Surgery
#26
JOURNAL ARTICLE
Courtneay Hopper, Julie Dunne, Genevieve Dewar, Richard P Evershed
The subsistence practices of Later Stone Age (LSA) foragers and herders living in Namaqualand South Africa are often difficult to differentiate based on their archaeological signatures but characterizing their dietary choices is vital to understand the economic importance of domesticates. However, ethnohistoric accounts have provided information on the cooking/boiling of marine mammal fat, mutton, plants, and milk by early herders and foragers across the Western Cape. To further investigate these reports, we use lipid residue analysis to characterize 106 potsherds from four open-air LSA sites, spanning in time from the early first millennium to the late second millennium AD...
January 30, 2023: Scientific Reports
#27
JOURNAL ARTICLE
Stefanie H Mueller, Alvina G Lai, Maria Valkovskaya, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Michael Lush, Zomoruda Abu-Ful, Thomas U Ahearn, Irene L Andrulis, Hoda Anton-Culver, Natalia N Antonenkova, Volker Arndt, Kristan J Aronson, Annelie Augustinsson, Thais Baert, Laura E Beane Freeman, Matthias W Beckmann, Sabine Behrens, Javier Benitez, Marina Bermisheva, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Hermann Brenner, Sara Y Brucker, Saundra S Buys, Jose E Castelao, Tsun L Chan, Jenny Chang-Claude, Stephen J Chanock, Ji-Yeob Choi, Wendy K Chung, Sarah V Colonna, Sten Cornelissen, Fergus J Couch, Kamila Czene, Mary B Daly, Peter Devilee, Thilo Dörk, Laure Dossus, Miriam Dwek, Diana M Eccles, Arif B Ekici, A Heather Eliassen, Christoph Engel, D Gareth Evans, Peter A Fasching, Olivia Fletcher, Henrik Flyger, Manuela Gago-Dominguez, Yu-Tang Gao, Montserrat García-Closas, José A García-Sáenz, Jeanine Genkinger, Aleksandra Gentry-Maharaj, Felix Grassmann, Pascal Guénel, Melanie Gündert, Lothar Haeberle, Eric Hahnen, Christopher A Haiman, Niclas Håkansson, Per Hall, Elaine F Harkness, Patricia A Harrington, Jaana M Hartikainen, Mikael Hartman, Alexander Hein, Weang-Kee Ho, Maartje J Hooning, Reiner Hoppe, John L Hopper, Richard S Houlston, Anthony Howell, David J Hunter, Dezheng Huo, Hidemi Ito, Motoki Iwasaki, Anna Jakubowska, Wolfgang Janni, Esther M John, Michael E Jones, Audrey Jung, Rudolf Kaaks, Daehee Kang, Elza K Khusnutdinova, Sung-Won Kim, Cari M Kitahara, Stella Koutros, Peter Kraft, Vessela N Kristensen, Katerina Kubelka-Sabit, Allison W Kurian, Ava Kwong, James V Lacey, Diether Lambrechts, Loic Le Marchand, Jingmei Li, Martha Linet, Wing-Yee Lo, Jirong Long, Artitaya Lophatananon, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Keitaro Matsuo, Dimitrios Mavroudis, Usha Menon, Kenneth Muir, Rachel A Murphy, Heli Nevanlinna, William G Newman, Dieter Niederacher, Katie M O'Brien, Nadia Obi, Kenneth Offit, Olufunmilayo I Olopade, Andrew F Olshan, Håkan Olsson, Sue K Park, Alpa V Patel, Achal Patel, Charles M Perou, Julian Peto, Paul D P Pharoah, Dijana Plaseska-Karanfilska, Nadege Presneau, Brigitte Rack, Paolo Radice, Dhanya Ramachandran, Muhammad U Rashid, Gad Rennert, Atocha Romero, Kathryn J Ruddy, Matthias Ruebner, Emmanouil Saloustros, Dale P Sandler, Elinor J Sawyer, Marjanka K Schmidt, Rita K Schmutzler, Michael O Schneider, Christopher Scott, Mitul Shah, Priyanka Sharma, Chen-Yang Shen, Xiao-Ou Shu, Jacques Simard, Harald Surowy, Rulla M Tamimi, William J Tapper, Jack A Taylor, Soo Hwang Teo, Lauren R Teras, Amanda E Toland, Rob A E M Tollenaar, Diana Torres, Gabriela Torres-Mejía, Melissa A Troester, Thérèse Truong, Celine M Vachon, Joseph Vijai, Clarice R Weinberg, Camilla Wendt, Robert Winqvist, Alicja Wolk, Anna H Wu, Taiki Yamaji, Xiaohong R Yang, Jyh-Cherng Yu, Wei Zheng, Argyrios Ziogas, Elad Ziv, Alison M Dunning, Douglas F Easton, Harry Hemingway, Ute Hamann, Karoline B Kuchenbaecker
BACKGROUND: Low-frequency variants play an important role in breast cancer (BC) susceptibility. Gene-based methods can increase power by combining multiple variants in the same gene and help identify target genes. METHODS: We evaluated the potential of gene-based aggregation in the Breast Cancer Association Consortium cohorts including 83,471 cases and 59,199 controls. Low-frequency variants were aggregated for individual genes' coding and regulatory regions. Association results in European ancestry samples were compared to single-marker association results in the same cohort...
January 26, 2023: Genome Medicine
#28
JOURNAL ARTICLE
Hannah Rowland, Richard Blundell, Julian Chantrey, Katie L Edwards, Andrew Moss, Mark F Stidworthy, Janet Gilbertson, Philip N Hawkins, Jane Hopper, Gabby J Drake, Javier Lopez
Amyloidosis is frequently identified during postmortem examination of captive eastern bongo ( Tragelaphus eurycerus isaaci ) in the European Endangered Species Programme (EEP). However, its significance and etiopathogenesis are poorly understood. The objective of this study was to investigate the prevalence of amyloidosis within this population and identify potential predictive factors for the presence of disease. Postmortem reports obtained from 24 EEP institutions were analyzed and assessed for evidence of amyloidosis...
January 2023: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
#29
JOURNAL ARTICLE
Ceres Fernandez-Rozadilla, Maria Timofeeva, Zhishan Chen, Philip Law, Minta Thomas, Stephanie Schmit, Virginia Díez-Obrero, Li Hsu, Juan Fernandez-Tajes, Claire Palles, Kitty Sherwood, Sarah Briggs, Victoria Svinti, Kevin Donnelly, Susan Farrington, James Blackmur, Peter Vaughan-Shaw, Xiao-Ou Shu, Jirong Long, Qiuyin Cai, Xingyi Guo, Yingchang Lu, Peter Broderick, James Studd, Jeroen Huyghe, Tabitha Harrison, David Conti, Christopher Dampier, Mathew Devall, Fredrick Schumacher, Marilena Melas, Gad Rennert, Mireia Obón-Santacana, Vicente Martín-Sánchez, Ferran Moratalla-Navarro, Jae Hwan Oh, Jeongseon Kim, Sun Ha Jee, Keum Ji Jung, Sun-Seog Kweon, Min-Ho Shin, Aesun Shin, Yoon-Ok Ahn, Dong-Hyun Kim, Isao Oze, Wanqing Wen, Keitaro Matsuo, Koichi Matsuda, Chizu Tanikawa, Zefang Ren, Yu-Tang Gao, Wei-Hua Jia, John Hopper, Mark Jenkins, Aung Ko Win, Rish Pai, Jane Figueiredo, Robert Haile, Steven Gallinger, Michael Woods, Polly Newcomb, David Duggan, Jeremy Cheadle, Richard Kaplan, Timothy Maughan, Rachel Kerr, David Kerr, Iva Kirac, Jan Böhm, Lukka-Pekka Mecklin, Pekka Jousilahti, Paul Knekt, Lauri Aaltonen, Harri Rissanen, Eero Pukkala, Johan Eriksson, Tatiana Cajuso, Ulrika Hänninen, Johanna Kondelin, Kimmo Palin, Tomas Tanskanen, Laura Renkonen-Sinisalo, Brent Zanke, Satu Männistö, Demetrius Albanes, Stephanie Weinstein, Edward Ruiz-Narvaez, Julie Palmer, Daniel Buchanan, Elizabeth Platz, Kala Visvanathan, Cornelia Ulrich, Erin Siegel, Stefanie Brezina, Andrea Gsur, Peter Campbell, Jenny Chang-Claude, Michael Hoffmeister, Hermann Brenner, Martha Slattery, John Potter, Konstantinos Tsilidis, Matthias Schulze, Marc Gunter, Neil Murphy, Antoni Castells, Sergi Castellví-Bel, Leticia Moreira, Volker Arndt, Anna Shcherbina, Mariana Stern, Bens Pardamean, Timothy Bishop, Graham Giles, Melissa Southey, Gregory Idos, Kevin McDonnell, Zomoroda Abu-Ful, Joel Greenson, Katerina Shulman, Flavio Lejbkowicz, Kenneth Offit, Yu-Ru Su, Robert Steinfelder, Temitope Keku, Bethany van Guelpen, Thomas Hudson, Heather Hampel, Rachel Pearlman, Sonja Berndt, Richard Hayes, Marie Elena Martinez, Sushma Thomas, Douglas Corley, Paul Pharoah, Susanna Larsson, Yun Yen, Heinz-Josef Lenz, Emily White, Li Li, Kimberly Doheny, Elizabeth Pugh, Tameka Shelford, Andrew Chan, Marcia Cruz-Correa, Annika Lindblom, David Hunter, Amit Joshi, Clemens Schafmayer, Peter Scacheri, Anshul Kundaje, Deborah Nickerson, Robert Schoen, Jochen Hampe, Zsofia Stadler, Pavel Vodicka, Ludmila Vodickova, Veronika Vymetalkova, Nickolas Papadopoulos, Chistopher Edlund, William Gauderman, Duncan Thomas, David Shibata, Amanda Toland, Sanford Markowitz, Andre Kim, Stephen Chanock, Franzel van Duijnhoven, Edith Feskens, Lori Sakoda, Manuela Gago-Dominguez, Alicja Wolk, Alessio Naccarati, Barbara Pardini, Liesel FitzGerald, Soo Chin Lee, Shuji Ogino, Stephanie Bien, Charles Kooperberg, Christopher Li, Yi Lin, Ross Prentice, Conghui Qu, Stéphane Bézieau, Catherine Tangen, Elaine Mardis, Taiki Yamaji, Norie Sawada, Motoki Iwasaki, Christopher Haiman, Loic Le Marchand, Anna Wu, Chenxu Qu, Caroline McNeil, Gerhard Coetzee, Caroline Hayward, Ian Deary, Sarah Harris, Evropi Theodoratou, Stuart Reid, Marion Walker, Li Yin Ooi, Victor Moreno, Graham Casey, Stephen Gruber, Ian Tomlinson, Wei Zheng, Malcolm Dunlop, Richard Houlston, Ulrike Peters
Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. We performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. We identified 155 high-confidence effector genes functionally linked to CRC risk, many of which had no previously established role in CRC...
December 20, 2022: Nature Genetics
#30
JOURNAL ARTICLE
Chi Kuen Wong, Enes Makalic, Gillian S Dite, Lawrence Whiting, Nicholas M Murphy, John L Hopper, Richard Allman
Polygenic risk scores (PRSs) are a promising approach to accurately predict an individual's risk of developing disease. The area under the receiver operating characteristic curve (AUC) of PRSs in their population are often only reported for models that are adjusted for age and sex, which are known risk factors for the disease of interest and confound the association between the PRS and the disease. This makes comparison of PRS between studies difficult because the genetic effects cannot be disentangled from effects of age and sex (which have a high AUC without the PRS)...
2022: PloS One
#31
JOURNAL ARTICLE
Suzanne C Dixon-Suen, Sarah J Lewis, Richard M Martin, Dallas R English, Terry Boyle, Graham G Giles, Kyriaki Michailidou, Manjeet K Bolla, Qin Wang, Joe Dennis, Michael Lush, Abctb Investigators, Thomas U Ahearn, Christine B Ambrosone, Irene L Andrulis, Hoda Anton-Culver, Volker Arndt, Kristan J Aronson, Annelie Augustinsson, Päivi Auvinen, Laura E Beane Freeman, Heiko Becher, Matthias W Beckmann, Sabine Behrens, Marina Bermisheva, Carl Blomqvist, Natalia V Bogdanova, Stig E Bojesen, Bernardo Bonanni, Hermann Brenner, Thomas Brüning, Saundra S Buys, Nicola J Camp, Daniele Campa, Federico Canzian, Jose E Castelao, Melissa H Cessna, Jenny Chang-Claude, Stephen J Chanock, Christine L Clarke, Don M Conroy, Fergus J Couch, Angela Cox, Simon S Cross, Kamila Czene, Mary B Daly, Peter Devilee, Thilo Dörk, Miriam Dwek, Diana M Eccles, A Heather Eliassen, Christoph Engel, Mikael Eriksson, D Gareth Evans, Peter A Fasching, Olivia Fletcher, Henrik Flyger, Lin Fritschi, Marike Gabrielson, Manuela Gago-Dominguez, Montserrat García-Closas, José A García-Sáenz, Mark S Goldberg, Pascal Guénel, Melanie Gündert, Eric Hahnen, Christopher A Haiman, Lothar Häberle, Niclas Håkansson, Per Hall, Ute Hamann, Steven N Hart, Michelle Harvie, Peter Hillemanns, Antoinette Hollestelle, Maartje J Hooning, Reiner Hoppe, John Hopper, Anthony Howell, David J Hunter, Anna Jakubowska, Wolfgang Janni, Esther M John, Audrey Jung, Rudolf Kaaks, Renske Keeman, Cari M Kitahara, Stella Koutros, Peter Kraft, Vessela N Kristensen, Katerina Kubelka-Sabit, Allison W Kurian, James V Lacey, Diether Lambrechts, Loic Le Marchand, Annika Lindblom, Sibylle Loibl, Jan Lubiński, Arto Mannermaa, Mehdi Manoochehri, Sara Margolin, Maria Elena Martinez, Dimitrios Mavroudis, Usha Menon, Anna Marie Mulligan, Rachel A Murphy, Nbcs Collaborators, Heli Nevanlinna, Ines Nevelsteen, William G Newman, Kenneth Offit, Andrew F Olshan, Håkan Olsson, Nick Orr, Alpa Patel, Julian Peto, Dijana Plaseska-Karanfilska, Nadege Presneau, Brigitte Rack, Paolo Radice, Erika Rees-Punia, Gad Rennert, Hedy S Rennert, Atocha Romero, Emmanouil Saloustros, Dale P Sandler, Marjanka K Schmidt, Rita K Schmutzler, Lukas Schwentner, Christopher Scott, Mitul Shah, Xiao-Ou Shu, Jacques Simard, Melissa C Southey, Jennifer Stone, Harald Surowy, Anthony J Swerdlow, Rulla M Tamimi, William J Tapper, Jack A Taylor, Mary Beth Terry, Rob A E M Tollenaar, Melissa A Troester, Thérèse Truong, Michael Untch, Celine M Vachon, Vijai Joseph, Barbara Wappenschmidt, Clarice R Weinberg, Alicja Wolk, Drakoulis Yannoukakos, Wei Zheng, Argyrios Ziogas, Alison M Dunning, Paul D P Pharoah, Douglas F Easton, Roger L Milne, Brigid M Lynch
OBJECTIVES: Physical inactivity and sedentary behaviour are associated with higher breast cancer risk in observational studies, but ascribing causality is difficult. Mendelian randomisation (MR) assesses causality by simulating randomised trial groups using genotype. We assessed whether lifelong physical activity or sedentary time, assessed using genotype, may be causally associated with breast cancer risk overall, pre/post-menopause, and by case-groups defined by tumour characteristics...
October 2022: British Journal of Sports Medicine
#32
JOURNAL ARTICLE
Shyamali C Dharmage, Dinh S Bui, Eugene H Walters, Adrian J Lowe, Bruce Thompson, Gayan Bowatte, Paul Thomas, Judith Garcia-Aymerich, Debbie Jarvis, Garun S Hamilton, David P Johns, Peter Frith, Chamara V Senaratna, Nur S Idrose, Richard R Wood-Baker, John Hopper, Lyle Gurrin, Bircan Erbas, George R Washko, Rosa Faner, Alvar Agusti, Michael J Abramson, Caroline J Lodge, Jennifer L Perret
BACKGROUND: Interest in lifetime lung function trajectories has increased in the context of emerging evidence that chronic obstructive pulmonary disease (COPD) can arise from multiple disadvantaged lung function pathways, including those that stem from poor lung function in childhood. To our knowledge, no previous study has investigated both obstructive and restrictive lifetime patterns concurrently, while accounting for potential overlaps between them. We aimed to investigate lifetime trajectories of the FEV1 /forced vital capacity (FVC) ratio, FVC, and their combinations, relate these combined trajectory groups to static lung volume and gas transfer measurements, and investigate both risk factors for and consequences of these combined trajectory groups...
March 2023: Lancet Respiratory Medicine
#33
REVIEW
Benjamin B Massenburg, Srinivas M Susarla, Hitesh P Kapadia, Richard A Hopper
Patients with syndromic craniosynostosis can present with midface hypoplasia, abnormal facial ratios, and obstructive sleep apnea. These symptoms can all be improved with midface advancement, but it is essential to evaluate the specific morphologic characteristics of each patient's bony deficiencies before offering subcranial advancement. Midface hypoplasia in Crouzon syndrome is evenly distributed between the central and lateral midface and reliably corrected with Le Fort III distraction. In contrast, the midface hypoplasia in Apert/Pfeiffer syndromes occurs in both an axial and a sagittal plane, with significantly more nasomaxillary hypoplasia compared with the orbitozygomatic deficiency...
August 2022: Oral and Maxillofacial Surgery Clinics of North America
#34
REVIEW
David J Delgado-Diaz, Dhanasekaran Sakthivel, Hanh H T Nguyen, Khashayar Farrokzhad, William Hopper, Charles A Narh, Jack S Richards
The COVID-19 pandemic has resulted in an unprecedented global demand for in vitro diagnostic reagents. Supply shortages and hoarding have impacted testing capacity which has led to inefficient COVID-19 case identification and transmission control, predominantly in developing countries. Traditionally, RNA extraction is a prerequisite for conducting SARS-CoV-2 nucleic acid amplification tests (NAAT); however, simplified methods of sample processing have been successful at bypassing typical nucleic acid extraction steps, enabling extraction-free SARS-CoV-2 NAAT workflows...
June 15, 2022: Viruses
#35
JOURNAL ARTICLE
Sarah Hersey, Steve Keller, Joel Mathews, Lindsay King, Abbas Bandukwala, Flora Berisha, Mary Birchler, Joe Bower, Valerie Clausen, Jose Duarte, Fabio Garofolo, Shirley Hopper, Sumit Kar, Omar Mabrouk, Jean-Claude Marshall, Kristina McGuire, Michael Naughton, Yoshiro Saito, Imelda Schuhmann, Gizette Sperinde, Priscila Teixeira, Alessandra Vitaliti, Yow-Ming Wang, Richard Wnek, Yan Zhang, Sue Spitz, Vilma Decman, Steven Eck, Jose Estevam, Polina Goihberg, Enrique Gómez Alcaide, Christèle Gonneau, Michael Nathan Hedrick, Gregory Hopkins, Fabian Junker, Sandra Nuti, Ulrike Sommer, Nathan Standifer, Chad Stevens, Erin Stevens, Carrie Hendricks, Meenu Wadhwa, Albert Torri, Mark Ma, Shannon Harris, Seema Kumar, Michael A Partridge, Teresa Caiazzo, Shannon Chilewski, Isabelle Cludts, Kelly Coble, Boris Gorovits, Christine Grimaldi, Gregor Jordan, John Kamerud, Beth Leary, Meina Liang, Hanjo Lim, Andrew Mayer, Ellen O'Connor, Nisha Palackal, Johann Poetzl, Sandra Prior, Mohsen Rajabi Abhari, Natasha Savoie, Catherine Soo, Mark Ware, Bonnie Wu, Yang Xu, Tong-Yuan Yang, Jad Zoghbi
The 15th edition of the Workshop on Recent Issues in Bioanalysis (15th WRIB) was held on 27 September to 1 October 2021. Even with a last-minute move from in-person to virtual, an overwhelmingly high number of nearly 900 professionals representing pharma and biotech companies, contract research organizations (CROs), and multiple regulatory agencies still eagerly convened to actively discuss the most current topics of interest in bioanalysis. The 15th WRIB included three Main Workshops and seven Specialized Workshops that together spanned 1 week in order to allow exhaustive and thorough coverage of all major issues in bioanalysis, biomarkers, immunogenicity, gene therapy, cell therapy and vaccines...
May 2022: Bioanalysis
#36
JOURNAL ARTICLE
Benjamin B Massenburg, Elizabeth Shepard, Ezgi Mercan, Amer Nassar, Craig B Birgfeld, Amy Lee, Richard G Ellenbogen, Richard A Hopper
BACKGROUND: It is important to determine whether sagittal synostosis-associated scaphocephaly is static in the presurgical period, or whether there are morphologic differences with time to include in surgical decision-making. The authors' purpose was to perform cross-sectional analysis of cranial morphology before any surgical intervention in children with sagittal synostosis younger than 9 months compared to matched controls. METHODS: The authors performed morphometric analysis on computed tomographic scans from 111 untreated isolated sagittal synostosis patients younger than 9 months and 37 age-matched normal controls...
June 1, 2022: Plastic and Reconstructive Surgery
#37
JOURNAL ARTICLE
Yatta Linhares Boakari, Manuel F Chamorro, Laura Huber, Julie Gard Schnuelle, Thomas Passler, Jenna Stockler, Jessica Rush, Benjamin W Newcomer, Katelyn Waters, Jessica Cowley, Ester Malmstrom, David Martinez, Shari Kennedy, Richard Hopper
Studies suggest that high cortisol resulting from lameness-associated pain decreases testosterone and disrupts spermatogenesis leading to decreased fertility. The objective of this study was to investigate the effect of lameness on cortisol and testosterone concentrations and breeding soundness examination of beef bulls presented to a veterinary teaching hospital. Bulls, two-years of age or older, that presented for lameness, foot trim, and/or breeding soundness examination were enrolled. Blood samples were collected for cortisol and testosterone evaluation...
April 4, 2022: Theriogenology
#38
RANDOMIZED CONTROLLED TRIAL
Felix Mahfoud, David E Kandzari, Kazuomi Kario, Raymond R Townsend, Michael A Weber, Roland E Schmieder, Konstantinos Tsioufis, Stuart Pocock, Kyriakos Dimitriadis, James W Choi, Cara East, Richard D'Souza, Andrew S P Sharp, Sebastian Ewen, Antony Walton, Ingrid Hopper, Sandeep Brar, Pamela McKenna, Martin Fahy, Michael Böhm
BACKGROUND: Renal denervation has been shown to lower blood pressure in the presence of antihypertensive medications; however, long-term safety and efficacy data from randomised trials of renal denervation are lacking. In this pre-specified analysis of the SPYRAL HTN-ON MED study, we compared changes in blood pressure, antihypertensive drug use, and safety up to 36 months in renal denervation versus a sham control group. METHODS: This randomised, single-blind, sham-controlled trial enrolled patients from 25 clinical centres in the USA, Germany, Japan, the UK, Australia, Austria, and Greece, with uncontrolled hypertension and office systolic blood pressure between 150 mm Hg and 180 mm Hg and diastolic blood pressure of 90 mm Hg or higher...
April 9, 2022: Lancet
#39
JOURNAL ARTICLE
Richard Hopper, Daniel Popa, Florin Udrea, Syed Zeeshan Ali, Phillip Stanley-Marbell
We present a miniaturised thermal acoustic gas sensor, fabricated using a CMOS microhotplate and MEMS microphone. The sensing mechanism is based on the detection of changes in the thermal acoustic conversion efficiency which is dependent on the physical properties of the gas. An active sensing element, consisting of a MEMS microphone, is used to detect the target gas while a reference element is used for acoustic noise compensation. Compared to current photoacoustic gas sensors, our sensor requires neither the use of gas-encapsulated microphones, nor that of optical filters...
February 1, 2022: Scientific Reports
#40
JOURNAL ARTICLE
Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mohammad Al-Shinnag, Stephen I Alexander, Alison D Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J Brown, Samantha J Bryen, Michael F Buckley, Belinda Chong, Mark R Davis, Ruebena Dawes, Martin Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, Matthew Edwards, Amanda Engel, Lisa J Ewans, Fathimath Faiz, Andrew Fennell, Michael Field, Mary-Louise Freckmann, Lyndon Gallacher, Russell Gear, Himanshu Goel, Shuxiang Goh, Linda Goodwin, Bernadette Hanna, James Harraway, Megan Higgins, Gladys Ho, Bruce K Hopper, Ari E Horton, Matthew F Hunter, Aamira J Huq, Sarah Josephi-Taylor, Himanshu Joshi, Edwin Kirk, Emma Krzesinski, Kishore R Kumar, Frances Lemckert, Richard J Leventer, Suzanna E Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie Marty, Justine E Marum, Hugh J McCarthy, Manoj P Menezes, Alison McLean, Di Milnes, Shekeeb Mohammad, David Mowat, Aram Niaz, Elizabeth E Palmer, Chirag Patel, Shilpan G Patel, Dean Phelan, Jason R Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard H Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid B Sinnerbrink, Janine M Smith, Richard J Smith, Amanda Springer, Zornitza Stark, Samuel P Strom, Carolyn M Sue, Kenneth Tan, Tiong Y Tan, Esther Tantsis, Michel C Tchan, Bryony A Thompson, Alison H Trainer, Karin van Spaendonck-Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M White, Mark G Williams, Meredith J Wilson, Wui Kwan Wong, Dale C Wright, Patrick Yap, Alison Yeung, Helen Young, Kristi J Jones, Bruce Bennetts, Sandra T Cooper
PURPOSE: Genetic variants causing aberrant premessenger RNA splicing are increasingly being recognized as causal variants in genetic disorders. In this study, we devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy). METHODS: A total of 74 families with diverse monogenic conditions (31% prenatal-congenital onset, 47% early childhood, and 22% teenage-adult onset) were triaged into PCR-based RNA testing, with comparative RNA sequencing for 19 cases...
January 2022: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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