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Jeffrey k lee

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https://www.readbyqxmd.com/read/28092325/persistent-pain-after-motor-vehicle-collision-comparative-effectiveness-of-opioids-vs-nonsteroidal-antiinflammatory-drugs-prescribed-from-the-emergency-department-a-propensity-matched-analysis
#1
Francesca L Beaudoin, Roee Gutman, Roland C Merchant, Melissa A Clark, Robert A Swor, Jeffrey S Jones, David C Lee, David A Peak, Robert M Domeier, Niels K Rathlev, Samuel A McLean
Each year millions of Americans present to the emergency department (ED) for care after a motor vehicle collision (MVC); the majority (>90%) are discharged to home after evaluation. Acute musculoskeletal pain is the norm in this population, and such patients are typically discharged to home with prescriptions for oral opioid analgesics or nonsteroidal antiinflammatory drugs (NSAIDs). The influence of acute pain management on subsequent pain outcomes in this common ED population is unknown. We evaluated the effect of opioid analgesics vs NSAIDs initiated from the ED on the presence of moderate to severe musculoskeletal pain and ongoing opioid use at 6 weeks in a large cohort of adult ED patients presenting to the ED after MVC (n = 948)...
February 2017: Pain
https://www.readbyqxmd.com/read/28068672/genomic-hallmarks-of-localized-non-indolent-prostate-cancer
#2
Michael Fraser, Veronica Y Sabelnykova, Takafumi N Yamaguchi, Lawrence E Heisler, Julie Livingstone, Vincent Huang, Yu-Jia Shiah, Fouad Yousif, Xihui Lin, Andre P Masella, Natalie S Fox, Michael Xie, Stephenie D Prokopec, Alejandro Berlin, Emilie Lalonde, Musaddeque Ahmed, Dominique Trudel, Xuemei Luo, Timothy A Beck, Alice Meng, Junyan Zhang, Alister D'Costa, Robert E Denroche, Haiying Kong, Shadrielle Melijah G Espiritu, Melvin L K Chua, Ada Wong, Taryne Chong, Michelle Sam, Jeremy Johns, Lee Timms, Nicholas B Buchner, Michèle Orain, Valérie Picard, Helène Hovington, Alexander Murison, Ken Kron, Nicholas J Harding, Christine P'ng, Kathleen E Houlahan, Kenneth C Chu, Bryan Lo, Francis Nguyen, Constance H Li, Ren X Sun, Richard de Borja, Christopher I Cooper, Julia F Hopkins, Shaylan K Govind, Clement Fung, Daryl Waggott, Jeffrey Green, Syed Haider, Michelle A Chan-Seng-Yue, Esther Jung, Zhiyuan Wang, Alain Bergeron, Alan Dal Pra, Louis Lacombe, Colin C Collins, Cenk Sahinalp, Mathieu Lupien, Neil E Fleshner, Housheng H He, Yves Fradet, Bernard Tetu, Theodorus van der Kwast, John D McPherson, Robert G Bristow, Paul C Boutros
Prostate tumours are highly variable in their response to therapies, but clinically available prognostic factors can explain only a fraction of this heterogeneity. Here we analysed 200 whole-genome sequences and 277 additional whole-exome sequences from localized, non-indolent prostate tumours with similar clinical risk profiles, and carried out RNA and methylation analyses in a subset. These tumours had a paucity of clinically actionable single nucleotide variants, unlike those seen in metastatic disease. Rather, a significant proportion of tumours harboured recurrent non-coding aberrations, large-scale genomic rearrangements, and alterations in which an inversion repressed transcription within its boundaries...
January 9, 2017: Nature
https://www.readbyqxmd.com/read/28067620/characterisation-of-the-opposing-effects-of-g6pd-deficiency-on-cerebral-malaria-and-severe-malarial-anaemia
#3
Geraldine M Clarke, Kirk Rockett, Katja Kivinen, Christina Hubbart, Anna E Jeffreys, Kate Rowlands, Muminatou Jallow, David J Conway, Kalifa A Bojang, Margaret Pinder, Stanley Usen, Fatoumatta Sisay-Joof, Giorgio Sirugo, Ousmane Toure, Mahamadou A Thera, Salimata Konate, Sibiry Sissoko, Amadou Niangaly, Belco Poudiougou, Valentina D Mangano, Edith C Bougouma, Sodiomon B Sirima, David Modiano, Lucas N Amenga-Etego, Anita Ghansah, Kwadwo A Koram, Michael D Wilson, Anthony Enimil, Jennifer Evans, Olukemi K Amodu, Subulade Olaniyan, Tobias Apinjoh, Regina Mugri, Andre Ndi, Carolyne M Ndila, Sophie Uyoga, Alexander Macharia, Norbert Peshu, Thomas N Williams, Alphaxard Manjurano, Nuno Sepúlveda, Taane G Clark, Eleanor Riley, Chris Drakeley, Hugh Reyburn, Vysaul Nyirongo, David Kachala, Malcolm Molyneux, Sarah J Dunstan, Nguyen Hoan Phu, Nguyen Ngoc Quyen, Cao Quang Thai, Tran Tinh Hien, Laurens Manning, Moses Laman, Peter Siba, Harin Karunajeewa, Steve Allen, Angela Allen, Timothy Me Davis, Pascal Michon, Ivo Mueller, Síle F Molloy, Susana Campino, Angeliki Kerasidou, Victoria J Cornelius, Lee Hart, Shivang S Shah, Gavin Band, Chris Ca Spencer, Tsiri Agbenyega, Eric Achidi, Ogobara K Doumbo, Jeremy Farrar, Kevin Marsh, Terrie Taylor, Dominic P Kwiatkowski
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is believed to confer protection against Plasmodium falciparum malaria, but the precise nature of the protective effecthas proved difficult to define as G6PD deficiency has multiple allelic variants with different effects in males and females, and it has heterogeneous effects on the clinical outcome of P. falciparum infection. Here we report an analysis of multiple allelic forms of G6PD deficiency in a large multi-centre case-control study of severe malaria, using the WHO classification of G6PD mutations to estimate each individual's level of enzyme activity from their genotype...
January 9, 2017: ELife
https://www.readbyqxmd.com/read/28051081/investigation-of-phonon-coherence-and-backscattering-using-silicon-nanomeshes
#4
Jaeho Lee, Woochul Lee, Geoff Wehmeyer, Scott Dhuey, Deirdre L Olynick, Stefano Cabrini, Chris Dames, Jeffrey J Urban, Peidong Yang
Phonons can display both wave-like and particle-like behaviour during thermal transport. While thermal transport in silicon nanomeshes has been previously interpreted by phonon wave effects due to interference with periodic structures, as well as phonon particle effects including backscattering, the dominant mechanism responsible for thermal conductivity reductions below classical predictions still remains unclear. Here we isolate the wave-related coherence effects by comparing periodic and aperiodic nanomeshes, and quantify the backscattering effect by comparing variable-pitch nanomeshes...
January 4, 2017: Nature Communications
https://www.readbyqxmd.com/read/28042246/acute-pancreatitis-patient-registry-to-examine-novel-therapies-in-clinical-experience-apprentice-an-international-multicenter-consortium-for-the-study-of-acute-pancreatitis
#5
Georgios I Papachristou, Jorge D Machicado, Tyler Stevens, Mahesh Kumar Goenka, Miguel Ferreira, Silvia C Gutierrez, Vikesh K Singh, Ayesha Kamal, Jose A Gonzalez-Gonzalez, Mario Pelaez-Luna, Aiste Gulla, Narcis O Zarnescu, Konstantinos Triantafyllou, Sorin T Barbu, Jeffrey Easler, Carlos Ocampo, Gabriele Capurso, Livia Archibugi, Gregory A Cote, Louis Lambiase, Rakesh Kochhar, Tiffany Chua, Subhash Ch Tiwari, Haq Nawaz, Walter G Park, Enrique de-Madaria, Peter J Lee, Bechien U Wu, Phil J Greer, Mohannad Dugum, Efstratios Koutroumpakis, Venkata Akshintala, Amir Gougol
BACKGROUND: We have established a multicenter international consortium to better understand the natural history of acute pancreatitis (AP) worldwide and to develop a platform for future randomized clinical trials. METHODS: The AP patient registry to examine novel therapies in clinical experience (APPRENTICE) was formed in July 2014. Detailed web-based questionnaires were then developed to prospectively capture information on demographics, etiology, pancreatitis history, comorbidities, risk factors, severity biomarkers, severity indices, health-care utilization, management strategies, and outcomes of AP patients...
2017: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/28035324/the-july-effect-in-radical-cystectomy-mortality-morbidity-and-efficiency
#6
Keegan Zuk, Derek Jensen, Jessie Gills, Hadley Wyre, Jeffrey M Holzbeierlein, Ernesto Lopez-Corona, Eugene K Lee
Background: The "July effect" is the potential effect that new and recently promoted residents have on patient care during the first months of the academic year. Literature suggests that the July effect may worsen patient outcomes and lead to systemic inefficiencies. Objective: We evaluate the July effect on mortality, morbidity, and efficiency outcomes in patients undergoing radical cystectomy. Methods: A chart review was performed in patients who underwent radical cystectomy between January 2008 and April 2012...
October 27, 2016: Bladder Cancer
https://www.readbyqxmd.com/read/28032990/iterative-focused-screening-with-biological-fingerprints-identifies-selective-asc-1-inhibitors-distinct-from-traditional-high-throughput-screening
#7
Peter S Kutchukian, Lee Warren, Brian C Magliaro, Adam Amoss, Jason A Cassaday, Gregory O'Donnell, Brian Squadroni, Paul Zuck, Danette Pascarella, J Chris Culberson, Andrew J Cooke, Danielle Hurzy, Kelly-Ann Sondra Schlegel, Fiona Thomson, Eric N Johnson, Victor N Uebele, Jeffrey D Hermes, Sophie Parmentier-Batteur, Michael Finley
N-methyl-d-aspartate receptors (NMDARs) mediate glutamatergic signaling that is critical to cognitive processes in the central nervous system, and NMDAR hypofunction is thought to contribute to cognitive impairment observed in both schizophrenia and Alzheimer's disease. One approach to enhance the function of NMDAR is to increase the concentration of an NMDAR coagonist, such as glycine or d-serine, in the synaptic cleft. Inhibition of alanine-serine-cysteine transporter-1 (Asc-1), the primary transporter of d-serine, is attractive because the transporter is localized to neurons in brain regions critical to cognitive function, including the hippocampus and cortical layers III and IV, and is colocalized with d-serine and NMDARs...
January 6, 2017: ACS Chemical Biology
https://www.readbyqxmd.com/read/28030471/stress-related-psychological-symptoms-contribute-to-axial-pain-persistence-after-motor-vehicle-collision-path-analysis-results-from-a-prospective-longitudinal-study
#8
Rose K Feinberg, June Hu, Mark A Weaver, Roger B Fillingim, Robert A Swor, David A Peak, Jeffrey S Jones, Niels K Rathlev, David C Lee, Robert M Domeier, Phyllis L Hendry, Israel Liberzon, Samuel A McLean
Post-traumatic stress disorder (PTSD) symptoms and pain after traumatic events such as motor vehicle collision (MVC) have been proposed to be mutually promoting. We performed a prospective multicenter study that enrolled 948 individuals who presented to the emergency department (ED) within 24 hours of MVC and were discharged home after evaluation. Follow-up evaluations were completed 6 weeks, 6 months, and 1 year after MVC. Path analysis results supported the hypothesis that axial pain after MVC consistently promotes the maintenance of hyperarousal and intrusive symptoms, from the early weeks post-injury through 1 year...
December 22, 2016: Pain
https://www.readbyqxmd.com/read/28028150/cost-effectiveness-of-solitaire-stent-retriever-thrombectomy-for-acute-ischemic-stroke-results-from-the-swift-prime-trial-solitaire-with-the-intention-for-thrombectomy-as-primary-endovascular-treatment-for-acute-ischemic-stroke
#9
Theresa I Shireman, Kaijun Wang, Jeffrey L Saver, Mayank Goyal, Alain Bonafé, Hans-Christoph Diener, Elad I Levy, Vitor M Pereira, Gregory W Albers, Christophe Cognard, Werner Hacke, Olav Jansen, Tudor G Jovin, Heinrich P Mattle, Raul G Nogueira, Adnan H Siddiqui, Dileep R Yavagal, Thomas G Devlin, Demetrius K Lopes, Vivek K Reddy, Richard du Mesnil de Rochemont, Reza Jahan, Katherine A Vilain, John House, Jin-Moo Lee, David J Cohen
BACKGROUND AND PURPOSE: Clinical trials have demonstrated improved 90-day outcomes for patients with acute ischemic stroke treated with stent retriever thrombectomy plus tissue-type plasminogen activator (SST+tPA) compared with tPA. Previous studies suggested that this strategy may be cost-effective, but models were derived from pooled data and older assumptions. METHODS: In this prospective economic substudy conducted alongside the SWIFT-PRIME trial (Solitaire With the Intention for Thrombectomy as Primary Endovascular Treatment for Acute Ischemic Stroke), in-trial costs were measured for patients using detailed medical resource utilization and hospital billing data...
December 27, 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28013038/potential-implications-of-shortening-length-of-stay-following-radical-cystectomy-in-a-pre-eras-population
#10
Takahiro Osawa, Sapan N Ambani, Kola Olugbade, Ted A Skolarus, Alon Z Weizer, Jeffrey S Montgomery, Chang He, Khaled S Hafez, Brent K Hollenbeck, Cheryl T Lee, James E Montie, Ganesh S Palapattu, Todd M Morgan
OBJECTIVE: To investigate whether shortened inpatient length of stay (LOS) after radical cystectomy (RC) is associated with increased complication rates after hospital discharge. MATERIALS AND METHODS: The analytic cohort comprised 484 consecutive patients with 90-day follow-up who underwent RC at our institution from 2005 to 2012 and with LOS ≤9 days. Patients were categorized according to LOS as short (s-LOS; ≤5 days) or routine (r-LOS; 6-9 days). The primary outcome was major complications (Clavien-Dindo grades 3-5) occurring within 90 days after discharge...
December 21, 2016: Urology
https://www.readbyqxmd.com/read/28007869/the-importance-of-lymph-node-dissection-accompanying-wedge-resection-for-clinical-stage-ia-lung-cancer%C3%A2
#11
Brendon M Stiles, Mohamed K Kamel, Abu Nasar, Sebron Harrison, Andrew B Nguyen, Paul Lee, Jeffrey L Port, Nasser K Altorki
OBJECTIVES: For patients undergoing lobectomy for non-small cell lung cancer (NSCLC), a survival benefit exists with increased number of lymph nodes (LNs) resected. We sought to evaluate the associations of LN removal with outcomes in clinical stage I lung cancer patients undergoing wedge resection. METHODS: We evaluated all patients undergoing wedge resection for peripheral, clinical stage IA NSCLC and grouped patients into those with and without LN assessment...
December 22, 2016: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28002849/penile-replantation-a-retrospective-analysis-of-outcomes-and-complications
#12
Shane D Morrison, Afaaf Shakir, Krishna S Vyas, Austin C Remington, Benjamin Mogni, Stelios C Wilson, David W Grant, Daniel Y Cho, Amir A Rahnemai-Azar, Gordon K Lee, Jeffrey B Friedrich, Samir Mardini
Purpose Penile replantation is an uncommonly performed procedure, which can alleviate physical and psychosocial sequelae of penile amputation. This study critically appraises the current literature on penile replantation. Methods A comprehensive literature search of the Medline, PubMed, and Google Scholar databases was conducted with multiple search terms related to penile replantation. Data on outcomes, complications, and patient satisfaction were collected. Results A total of 74 articles met inclusion criteria...
December 21, 2016: Journal of Reconstructive Microsurgery
https://www.readbyqxmd.com/read/27969509/ps01-42-predictors-of-incomplete-esophageal-cancer-resection-questionable-role-of%C3%A2-preoperative-therapy-topic-surgery
#13
Mohamed Kamel, Paul C Lee, Mohamed Rahouma, Galal Ghaly, Abu Nasar, Jeffrey L Port, Brendon M Stiles, Weston Andrews, Nasser K Altorki
No abstract text is available yet for this article.
November 2016: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/27969447/oral02-04-predictors-of-adverse-perioperative-outcome-following-lobectomy-a-population-based-analysis-topic-surgery
#14
Mohamed Kamel, Galal Ghaly, Mohamed Rahouma, Abu Nasar, Jeffrey L Port, Brendon M Stiles, Andrew Nguyen, Nasser K Altorki, Subroto Paul, Paul C Lee
No abstract text is available yet for this article.
November 2016: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/27890647/reducing-preterm-birth-by-a-state-wide-multifaceted-program-an-implementation-study
#15
John P Newnham, Scott W White, Suzanne Meharry, Han-Shin Lee, Michelle K Pedretti, Catherine A Arrese, Jeffrey A Keelan, Matthew W Kemp, Jan E Dickinson, Dorota A Doherty
BACKGROUND: A comprehensive preterm birth prevention program was introduced in the state of Western Australia encompassing new clinical guidelines, an outreach program for health care practitioners, a public health program for women and their families based on print and social media, and a new clinic at the state's sole tertiary level perinatal center for referral of those pregnant women at highest risk. The initiative had the single aim of safely lowering the rate of preterm birth. OBJECTIVE: The objective of the study was to evaluate the outcomes of the initiative on the rates of preterm birth both state-wide and in the single tertiary level perinatal referral center...
November 25, 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27870408/sex-specific-effects-of-the-huntington-gene-on-normal-neurodevelopment
#16
Jessica K Lee, Yue Ding, Amy L Conrad, Elena Cattaneo, Eric Epping, Kathy Mathews, Pedro Gonzalez-Alegre, Larry Cahill, Vincent Magnotta, Bradley L Schlaggar, Joel S Perlmutter, Regina E Y Kim, Jeffrey D Dawson, Peg Nopoulos
Huntington disease is a neurodegenerative disorder caused by a gene (HTT) with a unique feature of trinucleotide repeats ranging from 10 to 35 in healthy people; when expanded beyond 39 repeats, Huntington disease develops. Animal models demonstrate that HTT is vital to brain development; however, this has not been studied in humans. Moreover, evidence suggests that triplet repeat genes may have been vital in evolution of the human brain. Here we evaluate brain structure using magnetic resonance imaging and brain function using cognitive tests in a sample of school-aged children ages 6 to 18 years old...
January 2, 2017: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/27843641/esmo-asco-recommendations-for-a-global-curriculum-in-medical-oncology-edition-2016
#17
REVIEW
Christian Dittrich, Michael Kosty, Svetlana Jezdic, Doug Pyle, Rossana Berardi, Jonas Bergh, Nagi El-Saghir, Jean-Pierre Lotz, Pia Österlund, Nicholas Pavlidis, Gunta Purkalne, Ahmad Awada, Susana Banerjee, Smita Bhatia, Jan Bogaerts, Jan Buckner, Fatima Cardoso, Paolo Casali, Edward Chu, Julia Lee Close, Bertrand Coiffier, Roisin Connolly, Sarah Coupland, Luigi De Petris, Maria De Santis, Elisabeth G E de Vries, Don S Dizon, Jennifer Duff, Linda R Duska, Alexandru Eniu, Marc Ernstoff, Enriqueta Felip, Martin F Fey, Jill Gilbert, Nicolas Girard, Andor W J M Glaudemans, Priya K Gopalan, Axel Grothey, Stephen M Hahn, Diana Hanna, Christian Herold, Jørn Herrstedt, Krisztian Homicsko, Dennie V Jones, Lorenz Jost, Ulrich Keilholz, Saad Khan, Alexander Kiss, Claus-Henning Köhne, Rainer Kunstfeld, Heinz-Josef Lenz, Stuart Lichtman, Lisa Licitra, Thomas Lion, Saskia Litière, Lifang Liu, Patrick J Loehrer, Merry Jennifer Markham, Ben Markman, Marius Mayerhoefer, Johannes G Meran, Olivier Michielin, Elizabeth Charlotte Moser, Giannis Mountzios, Timothy Moynihan, Torsten Nielsen, Yuichiro Ohe, Kjell Öberg, Antonio Palumbo, Fedro Alessandro Peccatori, Michael Pfeilstöcker, Chandrajit Raut, Scot C Remick, Mark Robson, Piotr Rutkowski, Roberto Salgado, Lidia Schapira, Eva Schernhammer, Martin Schlumberger, Hans-Joachim Schmoll, Lowell Schnipper, Cristiana Sessa, Charles L Shapiro, Julie Steele, Cora N Sternberg, Friedrich Stiefel, Florian Strasser, Roger Stupp, Richard Sullivan, Josep Tabernero, Luzia Travado, Marcel Verheij, Emile Voest, Everett Vokes, Jamie Von Roenn, Jeffrey S Weber, Hans Wildiers, Yosef Yarden
The European Society for Medical Oncology (ESMO) and the American Society of Clinical Oncology (ASCO) are publishing a new edition of the ESMO/ASCO Global Curriculum (GC) thanks to contribution of 64 ESMO-appointed and 32 ASCO-appointed authors. First published in 2004 and updated in 2010, the GC edition 2016 answers to the need for updated recommendations for the training of physicians in medical oncology by defining the standard to be fulfilled to qualify as medical oncologists. At times of internationalisation of healthcare and increased mobility of patients and physicians, the GC aims to provide state-of-the-art cancer care to all patients wherever they live...
2016: ESMO Open
https://www.readbyqxmd.com/read/27794500/local-control-and-toxicity-of-a-simultaneous-integrated-boost-for-dose-escalation-in-locally-advanced-esophageal-cancer-interim-results-from-a-prospective-phase-i-ii-trial
#18
James W Welsh, Steven N Seyedin, Pamela K Allen, Wayne L Hofstetter, Jaffer A Ajani, Joe Y Chang, Daniel R Gomez, Arya Amini, Stephen G Swisher, Mariela A Blum, Ahmed I Younes, Quynh-Nhu Nguyen, Bruce D Minsky, Jeremy J Erasmus, Jeffrey H Lee, Manoop Bhutani, Ritsuko U Komaki
INTRODUCTION: Approximately 50% of recurrences after standard-dose chemoradiation for locally advanced esophageal cancer occur within the gross tumor volume (GTV). In this prospective phase I/II clinical trial, we explored use of a simultaneous integrated boost (SIB) dose to the GTV. METHODS: Forty-four patients with unresectable esophageal cancer received chemoradiation with an SIB of 58.8-63 Gy to the GTV and 50.4 Gy to the PTV, all in 28 fractions, with 5 weeks of concurrent docetaxel and fluorouracil or capecitabine...
October 26, 2016: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/27793025/hedgehog-pathway-dysregulation-contributes-to-the-pathogenesis-of-human-gastrointestinal-stromal-tumors-via-gli-mediated-activation-of-kit-expression
#19
Chih-Min Tang, Tracy E Lee, Sabriya A Syed, Adam M Burgoyne, Stephanie Y Leonard, Fei Gao, Jonathan C Chan, Eileen Shi, Juliann Chmielecki, Deborah Morosini, Kai Wang, Jeffrey S Ross, Michael L Kendrick, Michael R Bardsley, Martina De Siena, Junhao Mao, Olivier Harismendy, Tamas Ordog, Jason K Sicklick
Gastrointestinal stromal tumors (GIST) arise within the interstitial cell of Cajal (ICC) lineage due to activating KIT/PDGFRA mutations. Both ICC and GIST possess primary cilia (PC), which coordinate PDGFRA and Hedgehog signaling, regulators of gastrointestinal mesenchymal development. Therefore, we hypothesized that Hedgehog signaling may be altered in human GIST and controls KIT expression. Quantitative RT-PCR, microarrays, and next generation sequencing were used to describe Hedgehog/PC-related genes in purified human ICC and GIST...
October 25, 2016: Oncotarget
https://www.readbyqxmd.com/read/27792790/phactr1-is-a-genetic-susceptibility-locus-for-fibromuscular-dysplasia-supporting-its-complex-genetic-pattern-of-inheritance
#20
Soto Romuald Kiando, Nathan R Tucker, Luis-Jaime Castro-Vega, Alexander Katz, Valentina D'Escamard, Cyrielle Tréard, Daniel Fraher, Juliette Albuisson, Daniella Kadian-Dodov, Zi Ye, Erin Austin, Min-Lee Yang, Kristina Hunker, Cristina Barlassina, Daniele Cusi, Pilar Galan, Jean-Philippe Empana, Xavier Jouven, Anne-Paule Gimenez-Roqueplo, Patrick Bruneval, Esther Soo Hyun Kim, Jeffrey W Olin, Heather L Gornik, Michel Azizi, Pierre-François Plouin, Patrick T Ellinor, Iftikhar J Kullo, David J Milan, Santhi K Ganesh, Pierre Boutouyrie, Jason C Kovacic, Xavier Jeunemaitre, Nabila Bouatia-Naji
Fibromuscular dysplasia (FMD) is a nonatherosclerotic vascular disease leading to stenosis, dissection and aneurysm affecting mainly the renal and cerebrovascular arteries. FMD is often an underdiagnosed cause of hypertension and stroke, has higher prevalence in females (~80%) but its pathophysiology is unclear. We analyzed ~26K common variants (MAF>0.05) generated by exome-chip arrays in 249 FMD patients and 689 controls. We replicated 13 loci (P<10-4) in 402 cases and 2,537 controls and confirmed an association between FMD and a variant in the phosphatase and actin regulator 1 gene (PHACTR1)...
October 2016: PLoS Genetics
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