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https://www.readbyqxmd.com/read/29766399/consensus-guidelines-for-the-use-and-interpretation-of-angiogenesis-assays
#1
REVIEW
Patrycja Nowak-Sliwinska, Kari Alitalo, Elizabeth Allen, Andrey Anisimov, Alfred C Aplin, Robert Auerbach, Hellmut G Augustin, David O Bates, Judy R van Beijnum, R Hugh F Bender, Gabriele Bergers, Andreas Bikfalvi, Joyce Bischoff, Barbara C Böck, Peter C Brooks, Federico Bussolino, Bertan Cakir, Peter Carmeliet, Daniel Castranova, Anca M Cimpean, Ondine Cleaver, George Coukos, George E Davis, Michele De Palma, Anna Dimberg, Ruud P M Dings, Valentin Djonov, Andrew C Dudley, Neil P Dufton, Sarah-Maria Fendt, Napoleone Ferrara, Marcus Fruttiger, Dai Fukumura, Bart Ghesquière, Yan Gong, Robert J Griffin, Adrian L Harris, Christopher C W Hughes, Nan W Hultgren, M Luisa Iruela-Arispe, Melita Irving, Rakesh K Jain, Raghu Kalluri, Joanna Kalucka, Robert S Kerbel, Jan Kitajewski, Ingeborg Klaassen, Hynda K Kleinmann, Pieter Koolwijk, Elisabeth Kuczynski, Brenda R Kwak, Koen Marien, Juan M Melero-Martin, Lance L Munn, Roberto F Nicosia, Agnes Noel, Jussi Nurro, Anna-Karin Olsson, Tatiana V Petrova, Kristian Pietras, Roberto Pili, Jeffrey W Pollard, Mark J Post, Paul H A Quax, Gabriel A Rabinovich, Marius Raica, Anna M Randi, Domenico Ribatti, Curzio Ruegg, Reinier O Schlingemann, Stefan Schulte-Merker, Lois E H Smith, Jonathan W Song, Steven A Stacker, Jimmy Stalin, Amber N Stratman, Maureen Van de Velde, Victor W M van Hinsbergh, Peter B Vermeulen, Johannes Waltenberger, Brant M Weinstein, Hong Xin, Bahar Yetkin-Arik, Seppo Yla-Herttuala, Mervin C Yoder, Arjan W Griffioen
The formation of new blood vessels, or angiogenesis, is a complex process that plays important roles in growth and development, tissue and organ regeneration, as well as numerous pathological conditions. Angiogenesis undergoes multiple discrete steps that can be individually evaluated and quantified by a large number of bioassays. These independent assessments hold advantages but also have limitations. This article describes in vivo, ex vivo, and in vitro bioassays that are available for the evaluation of angiogenesis and highlights critical aspects that are relevant for their execution and proper interpretation...
May 15, 2018: Angiogenesis
https://www.readbyqxmd.com/read/29762141/pd-1-expression-in-chronic-lymphocytic-leukemia-small-lymphocytic-lymphoma-cll-sll-and-large-b-cell-richter-transformation-dlbcl-rt-a-characteristic-feature-of-dlbcl-rt-and-potential-surrogate-marker-for-clonal-relatedness
#2
Rong He, Wei Ding, David S Viswanatha, Dong Chen, Min Shi, Daniel Van Dyke, Shulan Tian, Linda N Dao, Sameer A Parikh, Tait D Shanafelt, Timothy G Call, Stephen M Ansell, Jose F Leis, Ming Mai, Curtis A Hanson, Karen L Rech
Chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) is a low-grade B-cell neoplasm and ∼2% to 9% patients develop an aggressive lymphoma, most commonly diffuse large B-cell lymphoma (Richter transformation, DLBCL-RT). Programmed death-1 (PD-1) pathway plays a crucial role in tumor host immunity evasion and its blockade has emerged as an effective anti-cancer immunotherapy. PD-L1 and PD-1 expression has shown predictive value in anti-PD cancer immunotherapy; however, it has not been well documented in CLL/SLL and DLBCL-RT...
May 14, 2018: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/29741727/response-to-letters-to-the-editor-by-dr-glozier-and-grunstein-and-by-drs-hertenstein-riemann-and-nissen-in-response-to-our-article-sleep-duration-in-the-united-states-2003-2016-first-signs-of-success-in-the-fight-against-sleep-deficiency
#3
https://www.readbyqxmd.com/read/29662124/stag2-deficiency-induces-interferon-responses-via-cgas-sting-pathway-and-restricts-virus-infection
#4
Siyuan Ding, Jonathan Diep, Ningguo Feng, Lili Ren, Bin Li, Yaw Shin Ooi, Xin Wang, Kevin F Brulois, Linda L Yasukawa, Xingnan Li, Calvin J Kuo, David A Solomon, Jan E Carette, Harry B Greenberg
Cohesin is a multi-subunit nuclear protein complex that coordinates sister chromatid separation during cell division. Highly frequent somatic mutations in genes encoding core cohesin subunits have been reported in multiple cancer types. Here, using a genome-wide CRISPR-Cas9 screening approach to identify host dependency factors and novel innate immune regulators of rotavirus (RV) infection, we demonstrate that the loss of STAG2, an important component of the cohesin complex, confers resistance to RV replication in cell culture and human intestinal enteroids...
April 16, 2018: Nature Communications
https://www.readbyqxmd.com/read/29644095/rapid-whole-genome-sequencing-decreases-infant-morbidity-and-cost-of-hospitalization
#5
Lauge Farnaes, Amber Hildreth, Nathaly M Sweeney, Michelle M Clark, Shimul Chowdhury, Shareef Nahas, Julie A Cakici, Wendy Benson, Robert H Kaplan, Richard Kronick, Matthew N Bainbridge, Jennifer Friedman, Jeffrey J Gold, Yan Ding, Narayanan Veeraraghavan, David Dimmock, Stephen F Kingsmore
Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-genome sequencing (rWGS) can diagnose genetic disorders in time to change acute medical or surgical management (clinical utility) and improve outcomes in acutely ill infants. We report a retrospective cohort study of acutely ill inpatient infants in a regional children's hospital from July 2016-March 2017. Forty-two families received rWGS for etiologic diagnosis of genetic disorders. Probands also received standard genetic testing as clinically indicated...
2018: NPJ Genomic Medicine
https://www.readbyqxmd.com/read/29625052/pathogenic-germline-variants-in-10-389-adult-cancers
#6
Kuan-Lin Huang, R Jay Mashl, Yige Wu, Deborah I Ritter, Jiayin Wang, Clara Oh, Marta Paczkowska, Sheila Reynolds, Matthew A Wyczalkowski, Ninad Oak, Adam D Scott, Michal Krassowski, Andrew D Cherniack, Kathleen E Houlahan, Reyka Jayasinghe, Liang-Bo Wang, Daniel Cui Zhou, Di Liu, Song Cao, Young Won Kim, Amanda Koire, Joshua F McMichael, Vishwanathan Hucthagowder, Tae-Beom Kim, Abigail Hahn, Chen Wang, Michael D McLellan, Fahd Al-Mulla, Kimberly J Johnson, Olivier Lichtarge, Paul C Boutros, Benjamin Raphael, Alexander J Lazar, Wei Zhang, Michael C Wendl, Ramaswamy Govindan, Sanjay Jain, David Wheeler, Shashikant Kulkarni, John F Dipersio, Jüri Reimand, Funda Meric-Bernstam, Ken Chen, Ilya Shmulevich, Sharon E Plon, Feng Chen, Li Ding
We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of SDHA in melanoma and PALB2 in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including ATM, BRCA1, and NF1, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events...
April 5, 2018: Cell
https://www.readbyqxmd.com/read/29617664/genomic-and-molecular-landscape-of-dna-damage-repair-deficiency-across-the-cancer-genome-atlas
#7
Theo A Knijnenburg, Linghua Wang, Michael T Zimmermann, Nyasha Chambwe, Galen F Gao, Andrew D Cherniack, Huihui Fan, Hui Shen, Gregory P Way, Casey S Greene, Yuexin Liu, Rehan Akbani, Bin Feng, Lawrence A Donehower, Chase Miller, Yang Shen, Mostafa Karimi, Haoran Chen, Pora Kim, Peilin Jia, Eve Shinbrot, Shaojun Zhang, Jianfang Liu, Hai Hu, Matthew H Bailey, Christina Yau, Denise Wolf, Zhongming Zhao, John N Weinstein, Lei Li, Li Ding, Gordon B Mills, Peter W Laird, David A Wheeler, Ilya Shmulevich, Raymond J Monnat, Yonghong Xiao, Chen Wang
DNA damage repair (DDR) pathways modulate cancer risk, progression, and therapeutic response. We systematically analyzed somatic alterations to provide a comprehensive view of DDR deficiency across 33 cancer types. Mutations with accompanying loss of heterozygosity were observed in over 1/3 of DDR genes, including TP53 and BRCA1/2. Other prevalent alterations included epigenetic silencing of the direct repair genes EXO5, MGMT, and ALKBH3 in ∼20% of samples. Homologous recombination deficiency (HRD) was present at varying frequency in many cancer types, most notably ovarian cancer...
April 3, 2018: Cell Reports
https://www.readbyqxmd.com/read/29588215/discovery-of-4-ethoxy-7h-pyrrolo-2-3-d-pyrimidin-2-amines-as-potent-selective-and-orally-bioavailable-lrrk2-inhibitors
#8
Xiao Ding, Luigi Piero Stasi, Ming-Hsun Ho, Baowei Zhao, Hailong Wang, Kai Long, Qiongfeng Xu, Yingxia Sang, Changhui Sun, Huan Hu, Haihua Yu, Zehong Wan, Lizhen Wang, Colin Edge, Qian Liu, Yi Li, Kelly Dong, Xiaoming Guan, F David Tattersall, Alastair D Reith, Feng Ren
Inhibition of LRRK2 kinase activity with small molecules has emerged as a potential novel therapeutic treatment for Parkinson's disease. Herein we disclose the discovery of a 4-ethoxy-7H-pyrrolo[2,3-d]pyrimidin-2-amine series as potent LRRK2 inhibitors identified through a kinase-focused set screening. Optimization of the physicochemical properties and kinase selectivity led to the discovery of compound 7, which exhibited potent in vitro inhibition of LRRK2 kinase activity, good physicochemical properties and kinase selectivity across the kinome...
March 19, 2018: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/29566793/genome-wide-analyses-identify-kif5a-as-a-novel-als-gene
#9
Aude Nicolas, Kevin P Kenna, Alan E Renton, Nicola Ticozzi, Faraz Faghri, Ruth Chia, Janice A Dominov, Brendan J Kenna, Mike A Nalls, Pamela Keagle, Alberto M Rivera, Wouter van Rheenen, Natalie A Murphy, Joke J F A van Vugt, Joshua T Geiger, Rick A Van der Spek, Hannah A Pliner, Shankaracharya, Bradley N Smith, Giuseppe Marangi, Simon D Topp, Yevgeniya Abramzon, Athina Soragia Gkazi, John D Eicher, Aoife Kenna, Gabriele Mora, Andrea Calvo, Letizia Mazzini, Nilo Riva, Jessica Mandrioli, Claudia Caponnetto, Stefania Battistini, Paolo Volanti, Vincenzo La Bella, Francesca L Conforti, Giuseppe Borghero, Sonia Messina, Isabella L Simone, Francesca Trojsi, Fabrizio Salvi, Francesco O Logullo, Sandra D'Alfonso, Lucia Corrado, Margherita Capasso, Luigi Ferrucci, Cristiane de Araujo Martins Moreno, Sitharthan Kamalakaran, David B Goldstein, Aaron D Gitler, Tim Harris, Richard M Myers, Hemali Phatnani, Rajeeva Lochan Musunuri, Uday Shankar Evani, Avinash Abhyankar, Michael C Zody, Julia Kaye, Steven Finkbeiner, Stacia K Wyman, Alex LeNail, Leandro Lima, Ernest Fraenkel, Clive N Svendsen, Leslie M Thompson, Jennifer E Van Eyk, James D Berry, Timothy M Miller, Stephen J Kolb, Merit Cudkowicz, Emily Baxi, Michael Benatar, J Paul Taylor, Evadnie Rampersaud, Gang Wu, Joanne Wuu, Giuseppe Lauria, Federico Verde, Isabella Fogh, Cinzia Tiloca, Giacomo P Comi, Gianni Sorarù, Cristina Cereda, Philippe Corcia, Hannu Laaksovirta, Liisa Myllykangas, Lilja Jansson, Miko Valori, John Ealing, Hisham Hamdalla, Sara Rollinson, Stuart Pickering-Brown, Richard W Orrell, Katie C Sidle, Andrea Malaspina, John Hardy, Andrew B Singleton, Janel O Johnson, Sampath Arepalli, Peter C Sapp, Diane McKenna-Yasek, Meraida Polak, Seneshaw Asress, Safa Al-Sarraj, Andrew King, Claire Troakes, Caroline Vance, Jacqueline de Belleroche, Frank Baas, Anneloor L M A Ten Asbroek, José Luis Muñoz-Blanco, Dena G Hernandez, Jinhui Ding, J Raphael Gibbs, Sonja W Scholz, Mary Kay Floeter, Roy H Campbell, Francesco Landi, Robert Bowser, Stefan M Pulst, John M Ravits, Daniel J L MacGowan, Janine Kirby, Erik P Pioro, Roger Pamphlett, James Broach, Glenn Gerhard, Travis L Dunckley, Christopher B Brady, Neil W Kowall, Juan C Troncoso, Isabelle Le Ber, Kevin Mouzat, Serge Lumbroso, Terry D Heiman-Patterson, Freya Kamel, Ludo Van Den Bosch, Robert H Baloh, Tim M Strom, Thomas Meitinger, Aleksey Shatunov, Kristel R Van Eijk, Mamede de Carvalho, Maarten Kooyman, Bas Middelkoop, Matthieu Moisse, Russell L McLaughlin, Michael A Van Es, Markus Weber, Kevin B Boylan, Marka Van Blitterswijk, Rosa Rademakers, Karen E Morrison, A Nazli Basak, Jesús S Mora, Vivian E Drory, Pamela J Shaw, Martin R Turner, Kevin Talbot, Orla Hardiman, Kelly L Williams, Jennifer A Fifita, Garth A Nicholson, Ian P Blair, Guy A Rouleau, Jesús Esteban-Pérez, Alberto García-Redondo, Ammar Al-Chalabi, Ekaterina Rogaeva, Lorne Zinman, Lyle W Ostrow, Nicholas J Maragakis, Jeffrey D Rothstein, Zachary Simmons, Johnathan Cooper-Knock, Alexis Brice, Stephen A Goutman, Eva L Feldman, Summer B Gibson, Franco Taroni, Antonia Ratti, Cinzia Gellera, Philip Van Damme, Wim Robberecht, Pietro Fratta, Mario Sabatelli, Christian Lunetta, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt, William Camu, John Q Trojanowski, Vivianna M Van Deerlin, Robert H Brown, Leonard H van den Berg, Jan H Veldink, Matthew B Harms, Jonathan D Glass, David J Stone, Pentti Tienari, Vincenzo Silani, Adriano Chiò, Christopher E Shaw, Bryan J Traynor, John E Landers
To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2)...
March 21, 2018: Neuron
https://www.readbyqxmd.com/read/29563066/interindividual-variability-in-neurobehavioral-response-to-sleep-loss-a-comprehensive-review
#10
REVIEW
Olga Tkachenko, David F Dinges
Stable trait-like responding is well established for neurobehavioral performance measures across repeated exposures to total sleep deprivation and partial chronic sleep restriction. These observed phenotypes are task-dependent, suggesting that there are distinct cognitive profiles of responding with differential vulnerability to sleep loss within the same individual. Numerous factors have been investigated as potential markers of phenotypic vulnerability to the effects of sleep loss but none fully account for this phenomenon...
March 18, 2018: Neuroscience and Biobehavioral Reviews
https://www.readbyqxmd.com/read/29557719/education-outcomes-in-a-duty-hour-flexibility-trial-in-internal-medicine
#11
Sanjay V Desai, David A Asch, Lisa M Bellini, Krisda H Chaiyachati, Manqing Liu, Alice L Sternberg, James Tonascia, Alyssa M Yeager, Jeremy M Asch, Joel T Katz, Mathias Basner, David W Bates, Karl Y Bilimoria, David F Dinges, Orit Even-Shoshan, David M Shade, Jeffrey H Silber, Dylan S Small, Kevin G Volpp, Judy A Shea
Background Concern persists that inflexible duty-hour rules in medical residency programs may adversely affect the training of physicians. Methods We randomly assigned 63 internal medicine residency programs in the United States to be governed by standard duty-hour policies of the 2011 Accreditation Council for Graduate Medical Education (ACGME) or by more flexible policies that did not specify limits on shift length or mandatory time off between shifts. Measures of educational experience included observations of the activities of interns (first-year residents), surveys of trainees (both interns and residents) and faculty, and intern examination scores...
March 20, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29549120/hemodynamic-characteristics-of-stable-and-unstable-vertebrobasilar-dolichoectatic-and-fusiform-aneurysms
#12
Waleed Brinjikji, Bongjae Chung, Ding Yong-Hong, John T Wald, Fernando Mut, Ramanathan Kadirvel, David F Kallmes, Aymeric Rouchaud, Giuseppe Lanzino, Juan R Cebral
BACKGROUND AND PURPOSE: Vertebrobasilar dolichoectatic and fusiform aneurysms (VBDAs) are known to have a poor natural history, with high rates of growth, rupture, and stroke. The purpose of this study was to identify hemodynamic characteristics that differ between VBDAs associated with growth, rupture, and stroke. MATERIALS AND METHODS: VBDAs with CT angiography or MR angiography followed longitudinally without treatment were studied. Unstable aneurysms were defined as those that grew or ruptured during follow-up...
March 16, 2018: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/29530304/data-and-methods-for-studying-commercial-motor-vehicle-driver-fatigue-highway-safety-and-long-term-driver-health
#13
Hal S Stern, Daniel Blower, Michael L Cohen, Charles A Czeisler, David F Dinges, Joel B Greenhouse, Feng Guo, Richard J Hanowski, Natalie P Hartenbaum, Gerald P Krueger, Melissa M Mallis, Richard F Pain, Matthew Rizzo, Esha Sinha, Dylan S Small, Elizabeth A Stuart, David H Wegman
This article summarizes the recommendations on data and methodology issues for studying commercial motor vehicle driver fatigue of a National Academies of Sciences, Engineering, and Medicine study. A framework is provided that identifies the various factors affecting driver fatigue and relating driver fatigue to crash risk and long-term driver health. The relevant factors include characteristics of the driver, vehicle, carrier and environment. Limitations of existing data are considered and potential sources of additional data described...
March 9, 2018: Accident; Analysis and Prevention
https://www.readbyqxmd.com/read/29446198/mutational-spectrum-in-a-worldwide-study-of-29-700-families-with-brca1-or-brca2-mutations
#14
Timothy R Rebbeck, Tara M Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo I Olopade, Angela R Solano, Soo-Hwang Teo, Mads Thomassen, Jeffrey N Weitzel, T L Chan, Fergus J Couch, David E Goldgar, Torben A Kruse, Edenir Inêz Palmero, Sue Kyung Park, Diana Torres, Elizabeth J van Rensburg, Lesley McGuffog, Michael T Parsons, Goska Leslie, Cora M Aalfs, Julio Abugattas, Julian Adlard, Simona Agata, Kristiina Aittomäki, Lesley Andrews, Irene L Andrulis, Adalgeir Arason, Norbert Arnold, Banu K Arun, Ella Asseryanis, Leo Auerbach, Jacopo Azzollini, Judith Balmaña, Monica Barile, Rosa B Barkardottir, Daniel Barrowdale, Javier Benitez, Andreas Berger, Raanan Berger, Amie M Blanco, Kathleen R Blazer, Marinus J Blok, Valérie Bonadona, Bernardo Bonanni, Angela R Bradbury, Carole Brewer, Bruno Buecher, Saundra S Buys, Trinidad Caldes, Almuth Caliebe, Maria A Caligo, Ian Campbell, Sandrine M Caputo, Jocelyne Chiquette, Wendy K Chung, Kathleen B M Claes, J Margriet Collée, Jackie Cook, Rosemarie Davidson, Miguel de la Hoya, Kim De Leeneer, Antoine de Pauw, Capucine Delnatte, Orland Diez, Yuan Chun Ding, Nina Ditsch, Susan M Domchek, Cecilia M Dorfling, Carolina Velazquez, Bernd Dworniczak, Jacqueline Eason, Douglas F Easton, Ros Eeles, Hans Ehrencrona, Bent Ejlertsen, Christoph Engel, Stefanie Engert, D Gareth Evans, Laurence Faivre, Lidia Feliubadaló, Sandra Fert Ferrer, Lenka Foretova, Jeffrey Fowler, Debra Frost, Henrique C R Galvão, Patricia A Ganz, Judy Garber, Marion Gauthier-Villars, Andrea Gehrig, Anne-Marie Gerdes, Paul Gesta, Giuseppe Giannini, Sophie Giraud, Gord Glendon, Andrew K Godwin, Mark H Greene, Jacek Gronwald, Angelica Gutierrez-Barrera, Eric Hahnen, Jan Hauke, Alex Henderson, Julia Hentschel, Frans B L Hogervorst, Ellen Honisch, Evgeny N Imyanitov, Claudine Isaacs, Louise Izatt, Angel Izquierdo, Anna Jakubowska, Paul James, Ramunas Janavicius, Uffe Birk Jensen, Esther M John, Joseph Vijai, Katarzyna Kaczmarek, Beth Y Karlan, Karin Kast, KConFab Investigators, Sung-Won Kim, Irene Konstantopoulou, Jacob Korach, Yael Laitman, Adriana Lasa, Christine Lasset, Conxi Lázaro, Annette Lee, Min Hyuk Lee, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Noralane M Lindor, Michel Longy, Jennifer T Loud, Karen H Lu, Jan Lubinski, Eva Machackova, Siranoush Manoukian, Véronique Mari, Cristina Martínez-Bouzas, Zoltan Matrai, Noura Mebirouk, Hanne E J Meijers-Heijboer, Alfons Meindl, Arjen R Mensenkamp, Ugnius Mickys, Austin Miller, Marco Montagna, Kirsten B Moysich, Anna Marie Mulligan, Jacob Musinsky, Susan L Neuhausen, Heli Nevanlinna, Joanne Ngeow, Huu Phuc Nguyen, Dieter Niederacher, Henriette Roed Nielsen, Finn Cilius Nielsen, Robert L Nussbaum, Kenneth Offit, Anna Öfverholm, Kai-Ren Ong, Ana Osorio, Laura Papi, Janos Papp, Barbara Pasini, Inge Sokilde Pedersen, Ana Peixoto, Nina Peruga, Paolo Peterlongo, Esther Pohl, Nisha Pradhan, Karolina Prajzendanc, Fabienne Prieur, Pascal Pujol, Paolo Radice, Susan J Ramus, Johanna Rantala, Muhammad Usman Rashid, Kerstin Rhiem, Mark Robson, Gustavo C Rodriguez, Mark T Rogers, Vilius Rudaitis, Ane Y Schmidt, Rita Katharina Schmutzler, Leigha Senter, Payal D Shah, Priyanka Sharma, Lucy E Side, Jacques Simard, Christian F Singer, Anne-Bine Skytte, Thomas P Slavin, Katie Snape, Hagay Sobol, Melissa Southey, Linda Steele, Doris Steinemann, Grzegorz Sukiennicki, Christian Sutter, Csilla I Szabo, Yen Y Tan, Manuel R Teixeira, Mary Beth Terry, Alex Teulé, Abigail Thomas, Darcy L Thull, Marc Tischkowitz, Silvia Tognazzo, Amanda Ewart Toland, Sabine Topka, Alison H Trainer, Nadine Tung, Christi J van Asperen, Annemieke H van der Hout, Lizet E van der Kolk, Rob B van der Luijt, Mattias Van Heetvelde, Liliana Varesco, Raymonda Varon-Mateeva, Ana Vega, Cynthia Villarreal-Garza, Anna von Wachenfeldt, Lisa Walker, Shan Wang-Gohrke, Barbara Wappenschmidt, Bernhard H F Weber, Drakoulis Yannoukakos, Sook-Yee Yoon, Cristina Zanzottera, Jamal Zidan, Kristin K Zorn, Christina G Hutten Selkirk, Peter J Hulick, Georgia Chenevix-Trench, Amanda B Spurdle, Antonis C Antoniou, Katherine L Nathanson
The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database...
May 2018: Human Mutation
https://www.readbyqxmd.com/read/29444292/determinants-of-sleepiness-in-obstructive-sleep-apnea
#15
Bharati Prasad, Alana D Steffen, Hans P A Van Dongen, Francis M Pack, Inna Strakovsky, Bethany Staley, David F Dinges, Greg Maislin, Allan I Pack, Terri E Weaver
Study Objectives: Significant interindividual variability in sleepiness is observed in clinical populations with obstructive sleep apnea (OSA). This phenomenon is only partially explained by the apnea-hypopnea index (AHI). Understanding factors that lead to sleepiness is critical to effective management of patients with OSA. We examined demographic and other factors associated with sleepiness in OSA. Methods: Prospective study of 283 patients with newly diagnosed OSA by polysomnography (AHI ≥ 5 per hour)...
February 10, 2018: Sleep
https://www.readbyqxmd.com/read/29398112/5-ht-2c-receptor-structures-reveal-the-structural-basis-of-gpcr-polypharmacology
#16
Yao Peng, John D McCorvy, Kasper Harpsøe, Katherine Lansu, Shuguang Yuan, Petr Popov, Lu Qu, Mengchen Pu, Tao Che, Louise F Nikolajsen, Xi-Ping Huang, Yiran Wu, Ling Shen, Walden E Bjørn-Yoshimoto, Kang Ding, Daniel Wacker, Gye Won Han, Jianjun Cheng, Vsevolod Katritch, Anders A Jensen, Michael A Hanson, Suwen Zhao, David E Gloriam, Bryan L Roth, Raymond C Stevens, Zhi-Jie Liu
Drugs frequently require interactions with multiple targets-via a process known as polypharmacology-to achieve their therapeutic actions. Currently, drugs targeting several serotonin receptors, including the 5-HT2C receptor, are useful for treating obesity, drug abuse, and schizophrenia. The competing challenges of developing selective 5-HT2C receptor ligands or creating drugs with a defined polypharmacological profile, especially aimed at G protein-coupled receptors (GPCRs), remain extremely difficult. Here, we solved two structures of the 5-HT2C receptor in complex with the highly promiscuous agonist ergotamine and the 5-HT2A-C receptor-selective inverse agonist ritanserin at resolutions of 3...
February 8, 2018: Cell
https://www.readbyqxmd.com/read/29357516/effects-of-12%C3%A2-head-down-tilt-with-and-without-elevated-levels-of-co-2-on-cognitive-performance-the-spacecot-study
#17
Mathias Basner, Jad Nasrini, Emanuel Hermosillo, Sarah McGuire, David F Dinges, Tyler M Moore, Ruben C Gur, Jörn Rittweger, Edwin Mulder, Martin Wittkowski, Dorit Donoviel, Brian Stevens, Eric M Bershad
Microgravity and elevated levels of CO2 are two common environmental stressors in spaceflight that may affect cognitive performance of astronauts. In this randomized, double-blind, crossover trial (SPACECOT), 6 healthy males (mean ± SD age: 41 ± 5 yr) were exposed to 0.04% (ambient air) and 0.5% CO2 concentrations during 26.5-h periods of -12° head-down tilt (HDT) bed rest with a 1-wk washout period between exposures. Subjects performed the 10 tests of the Cognition Test Battery before and on average 0.1, 5...
March 1, 2018: Journal of Applied Physiology
https://www.readbyqxmd.com/read/29325164/sleep-duration-in-the-united-states-2003-2016-first-signs-of-success-in-the-fight-against-sleep-deficiency
#18
Mathias Basner, David F Dinges
Study Objectives: The high prevalence of chronic insufficient sleep in the population has been a concern due to the associated health and safety risks. We evaluated secular trends in sleep duration over the most recent 14-year period. Methods: The American Time Use Survey (ATUS), representative of US residents ≥15 years, was used to investigate trends in self-reported sleep duration and waking activities for the period 2003-2016 (N=181,335 respondents). Results: Sleep duration increased across survey years both on weekdays (+1...
January 8, 2018: Sleep
https://www.readbyqxmd.com/read/29288193/assessment-of-endothelialization-of-aneurysm-wall-over-time-in-a-rabbit-model-through-cd31-scoring
#19
Praveen Kolumam Parameswaran, Daying Dai, Yong-Hong Ding, Tina Gunderson, David F Kallmes, Kadirvel Ramanathan
BACKGROUND: Intracranial aneurysms represent a significant health concern and are poorly understood despite decades of research. Our study focused on understanding temporal patterns of endothelial cell distribution in different spatial locations within the aneurysm early after creation in a rabbit model. METHODS: Elastase induced saccular aneurysms were created in rabbits and harvested on day 1 (n=3) and after 2 (n=5), 4 (n=4), 8 (n=5), and 12 (n=6) weeks. Sham operated controls (n=3) were harvested on the same day...
December 29, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/29191548/evaluation-of-enterprise-stent-assisted-coiling-and-telescoping-stent-technique-as-treatment-of-supraclinoid-blister-aneurysms-of-the-internal-carotid-artery
#20
Ding Xu, Changwei Zhang, Ting Wang, Chaohua Wang, David F Kallmes, Giuseppe Lanzino, Chao You, Xiaodong Xie
BACKGROUND: Supraclinoid blister aneurysms (BAs) of the internal carotid artery are uncommon and deadly, and appropriate treatment is controversial. Endovascular reconstruction may allow treatment through aneurysm isolation. We report a single-institution experience in the use of Enterprise stent-assisted coiling (ESAC) for treating BAs to appraise the safety and efficacy of this technique. METHODS: Patients treated with ESAC for a BA at our institution between 2013 and 2016 were retrospectively included in this study...
February 2018: World Neurosurgery
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