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Richard Hopper

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https://www.readbyqxmd.com/read/29168297/single-suture-craniosynostosis-identification-of-rare-variants-in-genes-associated-with-syndromic-forms
#1
Christine M Clarke, Vincent T Fok, Jennifer A Gustafson, Matthew D Smyth, Andrew E Timms, Chris D Frazar, Joshua D Smith, Craig B Birgfeld, Amy Lee, Richard G Ellenbogen, Joseph S Gruss, Richard A Hopper, Michael L Cunningham
We report RNA-Sequencing results on a cohort of patients with single suture craniosynostosis and demonstrate significant enrichment of heterozygous, rare, and damaging variants among key craniosynostosis-related genes. Genetic burden analysis identified a significant increase in damaging variants in ATR, EFNA4, ERF, MEGF8, SCARF2, and TGFBR2. Of 391 participants, 15% were found to have damaging and potentially causal variants in 29 genes. We observed transmission in 96% of the affected individuals, and thus penetrance, epigenetics, and oligogenic factors need to be considered when recommending genetic testing in patients with nonsyndromic craniosynostosis...
November 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29140953/contemporary-management-of-rectal-injuries-at-level-i-trauma-centers-the-results-of-an-american-association-for-the-surgery-of-trauma-multi-institutional-study
#2
Carlos V R Brown, Pedro G Teixeira, Elisa Furay, John P Sharpe, Tashinga Musonza, John Holcomb, Eric Bui, Brandon Bruns, H Andrew Hopper, Michael S Truitt, Clay C Burlew, Morgan Schellenberg, Jack Sava, John VanHorn, Brian Eastridge, Alicia M Cross, Richard Vasak, Gary Vercruysse, Eleanor E Curtis, James Haan, Raul Coimbra, Phillip Bohan, Stephen Gale, Peter G Bendix
INTRODUCTION: Rectal injuries have been historically treated with a combination of modalities including direct repair, resection, proximal diversion, presacral drainage, and distal rectal washout. We hypothesized that intraperitoneal rectal injuries may be selectively managed without diversion and the addition of distal rectal washout and pre-sacral drainage in the management of extraperitoneal injuries are not beneficial. METHODS: This is an American Association for the Surgery of Trauma multi-institutional retrospective study from 2004-2015 of all patients who sustained a traumatic rectal injury and were admitted to one of the 22 participating centers...
November 14, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/29108917/subcranial-and-orthognathic-surgery-for-obstructive-sleep-apnea-in-achondroplasia
#3
Srinivas M Susarla, Gerhard S Mundinger, Hitesh Kapadia, Mark Fisher, James Smartt, Christopher Derderian, Amir Dorafshar, Richard A Hopper
PURPOSE: Obstructive sleep apnea (OSA) is a common problem in patients with achondroplasia. The purpose of this study was to assess changes in airway volumes following various degrees of facial skeletal advancement. METHODS: This was a retrospective evaluation of patients with achondroplasia who underwent facial skeletal advancement for obstructive sleep apnea. Patients were treated with either an isolated Le Fort III distraction (LF3) or Le Fort II distraction with or without subsequent Le Fort I and bilateral sagittal split osteotomies (LF2 ± LF1/BSSO)...
October 5, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29099274/causes-of-blood-methylomic-variation-for-middle-aged-women-measured-by-the-humanmethylation450-array
#4
Shuai Li, Ee Ming Wong, Tuong L Nguyen, Ji-Hoon Eric Joo, Jennifer Stone, Gillian S Dite, Graham G Giles, Richard Saffery, Melissa C Southey, John L Hopper
To address the limitations in current classic twin/family research on the genetic and/or environmental causes of human methylomic variation, we measured blood DNA methylation for 479 women (mean age 56 years) including 66 monozygotic (MZ), 66 dizygotic (DZ) twin pairs and 215 sisters of twins, and 11 random technical duplicates using the HumanMethylation450 array. For each methylation site, we estimated the correlation for pairs of duplicates, MZ twins, DZ twins, and siblings, fitted variance component models by assuming the variation is explained by genetic factors, by shared and individual environmental factors, and by independent measurement error, and assessed the best fitting model...
November 3, 2017: Epigenetics: Official Journal of the DNA Methylation Society
https://www.readbyqxmd.com/read/29065043/defining-and-correcting-asymmetry-in-isolated-unilateral-frontosphenoidal-synostosis-differences-in-orbital-shape-facial-scoliosis-and-skullbase-twist-compared-to-unilateral-coronal-synostosis
#5
Gerhard S Mundinger, Rachel Skladman, Tara Wenger, Craig C Birgfeld, Joseph S Gruss, Amy Lee, Richard Ellenbogen, Richard A Hopper
INTRODUCTION: Isolated frontosphenoidal synostosis (FS) is a rare cause of fronto-orbital plagiocephaly that can be challenging to distinguish from isolated unicoronal synostosis (UC). The purpose of this paper is to analyze differences in fronto-orbital dysmorphology between the 2 conditions, to describe approaches for surgical correction, and to report surgical outcomes between FS and UC patients in a casecontrol fashion. METHODS: Patients treated for craniosynostosis over a 12-year period at our institution were retrospectively evaluated under institutional review board approval...
October 23, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28975875/education-in-twins-and-their-parents-across-birth-cohorts-over-100-years-an-individual-level-pooled-analysis-of-42-twin-cohorts
#6
Karri Silventoinen, Aline Jelenkovic, Antti Latvala, Reijo Sund, Yoshie Yokoyama, Vilhelmina Ullemar, Catarina Almqvist, Catherine A Derom, Robert F Vlietinck, Ruth J F Loos, Christian Kandler, Chika Honda, Fujio Inui, Yoshinori Iwatani, Mikio Watanabe, Esther Rebato, Maria A Stazi, Corrado Fagnani, Sonia Brescianini, Yoon-Mi Hur, Hoe-Uk Jeong, Tessa L Cutler, John L Hopper, Andreas Busjahn, Kimberly J Saudino, Fuling Ji, Feng Ning, Zengchang Pang, Richard J Rose, Markku Koskenvuo, Kauko Heikkilä, Wendy Cozen, Amie E Hwang, Thomas M Mack, Sisira H Siribaddana, Matthew Hotopf, Athula Sumathipala, Fruhling Rijsdijk, Joohon Sung, Jina Kim, Jooyeon Lee, Sooji Lee, Tracy L Nelson, Keith E Whitfield, Qihua Tan, Dongfeng Zhang, Clare H Llewellyn, Abigail Fisher, S Alexandra Burt, Kelly L Klump, Ariel Knafo-Noam, David Mankuta, Lior Abramson, Sarah E Medland, Nicholas G Martin, Grant W Montgomery, Patrik K E Magnusson, Nancy L Pedersen, Anna K Dahl Aslan, Robin P Corley, Brooke M Huibregtse, Sevgi Y Öncel, Fazil Aliev, Robert F Krueger, Matt McGue, Shandell Pahlen, Gonneke Willemsen, Meike Bartels, Catharina E M van Beijsterveldt, Judy L Silberg, Lindon J Eaves, Hermine H Maes, Jennifer R Harris, Ingunn Brandt, Thomas S Nilsen, Finn Rasmussen, Per Tynelius, Laura A Baker, Catherine Tuvblad, Juan R Ordoñana, Juan F Sánchez-Romera, Lucia Colodro-Conde, Margaret Gatz, David A Butler, Paul Lichtenstein, Jack H Goldberg, K Paige Harden, Elliot M Tucker-Drob, Glen E Duncan, Dedra Buchwald, Adam D Tarnoki, David L Tarnoki, Carol E Franz, William S Kremen, Michael J Lyons, José A Maia, Duarte L Freitas, Eric Turkheimer, Thorkild I A Sørensen, Dorret I Boomsma, Jaakko Kaprio
Whether monozygotic (MZ) and dizygotic (DZ) twins differ from each other in a variety of phenotypes is important for genetic twin modeling and for inferences made from twin studies in general. We analyzed whether there were differences in individual, maternal and paternal education between MZ and DZ twins in a large pooled dataset. Information was gathered on individual education for 218,362 adult twins from 27 twin cohorts (53% females; 39% MZ twins), and on maternal and paternal education for 147,315 and 143,056 twins respectively, from 28 twin cohorts (52% females; 38% MZ twins)...
October 2017: Twin Research and Human Genetics: the Official Journal of the International Society for Twin Studies
https://www.readbyqxmd.com/read/28960316/genome-wide-association-study-and-meta-analysis-in-northern-european-populations-replicate-multiple-colorectal-cancer-risk-loci
#7
Tomas Tanskanen, Linda van den Berg, Niko Välimäki, Mervi Aavikko, Eivind Ness-Jensen, Kristian Hveem, Yvonne Wettergren, Elinor Bexe Lindskog, Neeme Tõnisson, Andres Metspalu, Kaisa Silander, Giulia Orlando, Philip J Law, Sari Tuupanen, Alexandra E Gylfe, Ulrika A Hänninen, Tatiana Cajuso, Johanna Kondelin, Antti-Pekka Sarin, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Heikki Järvinen, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Nada A Al-Tassan, Claire Palles, Lynn Martin, Ella Barclay, Albert Tenesa, Susan M Farrington, Maria N Timofeeva, Brian F Meyer, Salma M Wakil, Harry Campbell, Christopher G Smith, Shelley Idziaszczyk, Tim S Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Daniel D Buchanan, Aung K Win, John Hopper, Mark A Jenkins, Polly A Newcomb, Steve Gallinger, David Conti, Fredrick R Schumacher, Graham Casey, Jeremy P Cheadle, Malcolm G Dunlop, Ian P Tomlinson, Richard S Houlston, Kimmo Palin, Lauri A Aaltonen
Genome-wide association studies have been successful in elucidating the genetic basis of colorectal cancer (CRC), but there remains unexplained variability in genetic risk. To identify new risk variants and to confirm reported associations, we conducted a genome-wide association study in 1,701 CRC cases and 14,082 cancer-free controls from the Finnish population. A total of 9,068,015 genetic variants were imputed and tested, and 30 promising variants were studied in additional 11,647 cases and 12,356 controls of European ancestry...
September 28, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28923521/why-do-people-with-mental-distress-have-poor-social-outcomes-four-lessons-from-the-capabilities-approach
#8
Richard Brunner
Macro level data indicate that people experiencing mental distress experience poor health, social and economic outcomes. The sociology of mental health has a series of dominant competing explanations of the mechanisms at personal, social and structural levels that generate these poor outcomes. This article explains the limitations of these approaches and takes up the challenge of Hopper (2007) who in this journal proposed the capabilities approach as a means of normatively reconceptualising the experiences of people with mental distress, with a renewed focus on agency, equality and genuine opportunity...
October 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28829991/pro-inflammatory-fatty-acid-profile-and-colorectal-cancer-risk-a-mendelian-randomisation-analysis
#9
Sebastian May-Wilson, Amit Sud, Philip J Law, Kimmo Palin, Sari Tuupanen, Alexandra Gylfe, Ulrika A Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Johan G Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Nada A Al-Tassan, Claire Palles, Susan M Farrington, Maria N Timofeeva, Brian F Meyer, Salma M Wakil, Harry Campbell, Christopher G Smith, Shelley Idziaszczyk, Timothy S Maughan, David Fisher, Rachel Kerr, David Kerr, Michael N Passarelli, Jane C Figueiredo, Daniel D Buchanan, Aung K Win, John L Hopper, Mark A Jenkins, Noralane M Lindor, Polly A Newcomb, Steven Gallinger, David Conti, Fred Schumacher, Graham Casey, Lauri A Aaltonen, Jeremy P Cheadle, Ian P Tomlinson, Malcolm G Dunlop, Richard S Houlston
BACKGROUND: While dietary fat has been established as a risk factor for colorectal cancer (CRC), associations between fatty acids (FAs) and CRC have been inconsistent. Using Mendelian randomisation (MR), we sought to evaluate associations between polyunsaturated (PUFA), monounsaturated (MUFA) and saturated FAs (SFAs) and CRC risk. METHODS: We analysed genotype data on 9254 CRC cases and 18,386 controls of European ancestry. Externally weighted polygenic risk scores were generated and used to evaluate associations with CRC per one standard deviation increase in genetically defined plasma FA levels...
October 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28814741/twin-birth-changes-dna-methylation-of-subsequent-siblings
#10
Shuai Li, Eunae Kim, Ee Ming Wong, Ji-Hoon Eric Joo, Tuong L Nguyen, Jennifer Stone, Yun-Mi Song, Louisa B Flander, Richard Saffery, Graham G Giles, Melissa C Southey, Joohon Sung, John L Hopper
We asked if twin birth influences the DNA methylation of subsequent siblings. We measured whole blood methylation using the HumanMethylation450 array for siblings from two twin and family studies in Australia and Korea. We compared the means and correlations in methylation between pairs of siblings born before a twin birth (BT siblings), born on either side of a twin birth (B/AT pairs) and born after a twin birth (AT siblings). For the genome-wide average DNA methylation, the correlation for AT pairs (rAT) was larger than the correlation for BT pairs (rBT) in both studies, and from the meta-analysis, rAT = 0...
August 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28782791/occupational-exposures-to-solvents-and-metals-are-associated-with-fixed-airflow-obstruction
#11
Sheikh M Alif, Shyamali C Dharmage, Geza Benke, Martine Dennekamp, Jennifer L Burgess, Caroline J Lodge, Stephen Morrison, David P Johns, Graham G Giles, Lyle C Gurrin, Paul S Thomas, John L Hopper, Richard Wood-Baker, Bruce R Thompson, Iain H Feather, Roel Vermeulen, Hans Kromhout, E Haydn Walters, Michael J Abramson, Melanie C Matheson
Objectives This study investigated the associations between occupational exposures to solvents and metals and fixed airflow obstruction (AO) using post-bronchodilator spirometry. Methods We included 1335 participants from the 2002-2008 follow-up of the Tasmanian Longitudinal Health Study. Ever-exposure and cumulative exposure-unit (EU) years were calculated using the ALOHA plus job exposure matrix (JEM). Fixed AO was defined as post-bronchodilator forced expiratory volume in one second (FEV1)/forced vital capacity (FVC) <0...
August 7, 2017: Scandinavian Journal of Work, Environment & Health
https://www.readbyqxmd.com/read/28734994/distraction-osteogenesis-normalizes-mandibular-body-symphysis-morphology-in-infants-with-robin-sequence
#12
Srinivas M Susarla, Kelly N Evans, Hitesh Kapadia, Nefeli Vasilakou, Mark A Egbert, Richard A Hopper
PURPOSE: To evaluate changes in mandibular morphology in infants with Robin sequence (RS) after mandibular distraction osteogenesis (MDO) and compare the post-distraction morphology with that in infants without RS and infants with RS who had not undergone MDO. MATERIALS AND METHODS: Infants with RS treated with MDO were retrospectively evaluated over a 12-year period. All patients had pre-distraction and end-consolidation maxillofacial computed tomograms. Morphologic features of the mandible were divided into ramus and condyle, body and symphysis, and composite measurements...
June 30, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28687678/occupational-exposure-to-pesticides-are-associated-with-fixed-airflow-obstruction-in-middle-age
#13
Sheikh M Alif, Shyamali C Dharmage, Geza Benke, Martine Dennekamp, John A Burgess, Jennifer L Perret, Caroline J Lodge, Stephen Morrison, David Peter Johns, Graham G Giles, Lyle C Gurrin, Paul S Thomas, John Llewelyn Hopper, Richard Wood-Baker, Bruce R Thompson, Iain H Feather, Roel Vermeulen, Hans Kromhout, E Haydn Walters, Michael J Abramson, Melanie Claire Matheson
RATIONALE: Population-based studies have found evidence of a relationship between occupational exposures and Chronic Obstructive Pulmonary Disease (COPD), but these studies are limited by the use of prebronchodilator spirometry. Establishing this link using postbronchodilator is critical, because occupational exposures are a modifiable risk factor for COPD. OBJECTIVES: To investigate the associations between occupational exposures and fixed airflow obstruction using postbronchodilator spirometry...
July 7, 2017: Thorax
https://www.readbyqxmd.com/read/28590972/reply-crowdsourcing-as-a-novel-method-to-evaluate-aesthetic-outcomes-of-treatment-for-unilateral-cleft-lip
#14
LETTER
Eugene Oh, Bryan A Comstock, Joseph Gruss, Richard Hopper, Craig Birgfeld, Raymond Tse
No abstract text is available yet for this article.
September 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/28407354/defining-mandibular-morphology-in-robin-sequence-a-matched-case-control-study
#15
Srinivas M Susarla, Nefeli Vasilakou, Hitesh Kapadia, Mark Egbert, Richard A Hopper, Kelly N Evans
Robin Sequence (RS) is classically defined as the triad of micrognathia, glossoptosis, and airway obstruction. While there remains significant debate over diagnostic criteria for severity, there is consensus regarding micrognathia as a defining feature of the condition. The purpose of this study was to compare mandibular morphology among infants and children with RS to infants and children without RS using maxillofacial computed tomography. Our hypothesis was that there are discrete morphologic differences between RS and non-RS mandibles...
April 13, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28369451/association-between-birthweight-and-later-body-mass-index-an-individual-based-pooled-analysis-of-27-twin-cohorts-participating-in-the-codatwins-project
#16
Aline Jelenkovic, Yoshie Yokoyama, Reijo Sund, Kirsi H Pietiläinen, Yoon-Mi Hur, Gonneke Willemsen, Meike Bartels, Toos C E M van Beijsterveldt, Syuichi Ooki, Kimberly J Saudino, Maria A Stazi, Corrado Fagnani, Cristina D'Ippolito, Tracy L Nelson, Keith E Whitfield, Ariel Knafo-Noam, David Mankuta, Lior Abramson, Kauko Heikkilä, Tessa L Cutler, John L Hopper, Jane Wardle, Clare H Llewellyn, Abigail Fisher, Robin P Corley, Brooke M Huibregtse, Catherine A Derom, Robert F Vlietinck, Ruth J F Loos, Morten Bjerregaard-Andersen, Henning Beck-Nielsen, Morten Sodemann, Adam D Tarnoki, David L Tarnoki, S Alexandra Burt, Kelly L Klump, Juan R Ordoñana, Juan F Sánchez-Romera, Lucia Colodro-Conde, Lise Dubois, Michel Boivin, Mara Brendgen, Ginette Dionne, Frank Vitaro, Jennifer R Harris, Ingunn Brandt, Thomas Sevenius Nilsen, Jeffrey M Craig, Richard Saffery, Finn Rasmussen, Per Tynelius, Gombojav Bayasgalan, Danshiitsoodol Narandalai, Claire M A Haworth, Robert Plomin, Fuling Ji, Feng Ning, Zengchang Pang, Esther Rebato, Robert F Krueger, Matt McGue, Shandell Pahlen, Dorret I Boomsma, Thorkild I A Sørensen, Jaakko Kaprio, Karri Silventoinen
Background: There is evidence that birthweight is positively associated with body mass index (BMI) in later life, but it remains unclear whether this is explained by genetic factors or the intrauterine environment. We analysed the association between birthweight and BMI from infancy to adulthood within twin pairs, which provides insights into the role of genetic and environmental individual-specific factors. Methods: This study is based on the data from 27 twin cohorts in 17 countries...
October 1, 2017: International Journal of Epidemiology
https://www.readbyqxmd.com/read/28340513/mendelian-randomisation-implicates-hyperlipidaemia-as-a-risk-factor-for-colorectal-cancer
#17
Henry Rodriguez-Broadbent, Philip J Law, Amit Sud, Kimmo Palin, Sari Tuupanen, Alexandra Gylfe, Ulrika A Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Samuli Ripatti, Johan G Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Aarno Palotie, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Nada A Al-Tassan, Claire Palles, Lynn Martin, Ella Barclay, Susan M Farrington, Maria N Timofeeva, Brian F Meyer, Salma M Wakil, Harry Campbell, Christopher G Smith, Shelley Idziaszczyk, Timothy S Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Michael N Passarelli, Jane C Figueiredo, Daniel D Buchanan, Aung K Win, John L Hopper, Mark A Jenkins, Noralane M Lindor, Polly A Newcomb, Steven Gallinger, David Conti, Fred Schumacher, Graham Casey, Lauri A Aaltonen, Jeremy P Cheadle, Ian P Tomlinson, Malcolm G Dunlop, Richard S Houlston
While elevated blood cholesterol has been associated with an increased risk of colorectal cancer (CRC) in observational studies, causality is uncertain. Here we apply a Mendelian randomisation (MR) analysis to examine the potential causal relationship between lipid traits and CRC risk. We used single nucleotide polymorphisms (SNPs) associated with blood levels of total cholesterol (TC), triglyceride (TG), low-density lipoprotein (LDL), and high-density lipoprotein (HDL) as instrumental variables (IV). We calculated MR estimates for each risk factor with CRC using SNP-CRC associations from 9,254 cases and 18,386 controls...
June 15, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28267917/optical-signatures-of-quantum-emitters-in-suspended-hexagonal-boron-nitride
#18
Annemarie L Exarhos, David A Hopper, Richard R Grote, Audrius Alkauskas, Lee C Bassett
Hexagonal boron nitride (h-BN) is rapidly emerging as an attractive material for solid-state quantum engineering. Analogously to three-dimensional wide-band-gap semiconductors such as diamond, h-BN hosts isolated defects exhibiting visible fluorescence at room temperature, and the ability to position such quantum emitters within a two-dimensional material promises breakthrough advances in quantum sensing, photonics, and other quantum technologies. Critical to such applications is an understanding of the physics underlying h-BN's quantum emission...
March 28, 2017: ACS Nano
https://www.readbyqxmd.com/read/28005736/management-of-the-repeatedly-failed-cranioplasty-following-large-postdecompressive-craniectomy-establishing-the-efficacy-of-staged-free-latissimus-dorsi-transfer-tissue-expansion-custom-polyetheretherketone-implant-reconstruction
#19
Gerhard S Mundinger, Kerry Latham, Jeffery Friedrich, Otway Louie, Hakim Said, Craig Birgfeld, Richard Ellenbogen, Richard A Hopper
BACKGROUND: Postdecompressive craniotomy defect management following failed prior cranioplastyis challenging. The authors describe a staged technique utilizing free muscle transfer, tissue expansion, and custom polyetheretherketone (PEEK) implants for the management of previously failed cranioplasty sites in patients with complicating local factors. METHODS: Consecutive patients with previously failed cranioplasties following large decompressive craniectomies underwent reconstruction of skull and soft tissue defects with staged free latissimus muscle transfer, tissue expansion, and placement of custom computer-aided design and modeling PEEK implants with a 'temporalis-plus' modification to minimize temporal hollowing...
November 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27723779/genome-wide-interaction-analyses-between-genetic-variants-and-alcohol-consumption-and-smoking-for-risk-of-colorectal-cancer
#20
Jian Gong, Carolyn M Hutter, Polly A Newcomb, Cornelia M Ulrich, Stephanie A Bien, Peter T Campbell, John A Baron, Sonja I Berndt, Stephane Bezieau, Hermann Brenner, Graham Casey, Andrew T Chan, Jenny Chang-Claude, Mengmeng Du, David Duggan, Jane C Figueiredo, Steven Gallinger, Edward L Giovannucci, Robert W Haile, Tabitha A Harrison, Richard B Hayes, Michael Hoffmeister, John L Hopper, Thomas J Hudson, Jihyoun Jeon, Mark A Jenkins, Jonathan Kocarnik, Sébastien Küry, Loic Le Marchand, Yi Lin, Noralane M Lindor, Reiko Nishihara, Shuji Ogino, John D Potter, Anja Rudolph, Robert E Schoen, Petra Schrotz-King, Daniela Seminara, Martha L Slattery, Stephen N Thibodeau, Mark Thornquist, Reka Toth, Robert Wallace, Emily White, Shuo Jiao, Mathieu Lemire, Li Hsu, Ulrike Peters
Genome-wide association studies (GWAS) have identified many genetic susceptibility loci for colorectal cancer (CRC). However, variants in these loci explain only a small proportion of familial aggregation, and there are likely additional variants that are associated with CRC susceptibility. Genome-wide studies of gene-environment interactions may identify variants that are not detected in GWAS of marginal gene effects. To study this, we conducted a genome-wide analysis for interaction between genetic variants and alcohol consumption and cigarette smoking using data from the Colon Cancer Family Registry (CCFR) and the Genetics and Epidemiology of Colorectal Cancer Consortium (GECCO)...
October 2016: PLoS Genetics
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