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https://www.readbyqxmd.com/read/28194436/real-time-genomic-profiling-of-histiocytoses-identifies-early-kinase-domain-braf-alterations-while-improving-treatment-outcomes
#1
Lynn H Lee, Anjelika Gasilina, Jayeeta Roychoudhury, Jason Clark, Francis X McCormack, Joseph Pressey, Michael S Grimley, Robert Lorsbach, Siraj Ali, Mark Bailey, Philip Stephens, Jeffrey S Ross, Vincent A Miller, Nicolas N Nassar, Ashish R Kumar
Many patients with histiocytic disorders such as Langerhans cell histiocytosis (LCH) or Erdheim-Chester disease (ECD) have treatment-refractory disease or suffer recurrences. Recent findings of gene mutations in histiocytoses have generated options for targeted therapies. We sought to determine the utility of prospective sequencing of select genes to further characterize mutations and identify targeted therapies for patients with histiocytoses. Biopsies of 72 patients with a variety of histiocytoses underwent comprehensive genomic profiling with targeted DNA and RNA sequencing...
February 9, 2017: JCI Insight
https://www.readbyqxmd.com/read/28178525/single-cell-analysis-of-smn-reveals-its-broader-role-in-neuromuscular-disease
#2
Natalia Rodriguez-Muela, Nadia K Litterman, Erika M Norabuena, Jesse L Mull, Maria José Galazo, Chicheng Sun, Shi-Yan Ng, Nina R Makhortova, Andrew White, Maureen M Lynes, Wendy K Chung, Lance S Davidow, Jeffrey D Macklis, Lee L Rubin
The mechanism underlying selective motor neuron (MN) death remains an essential question in the MN disease field. The MN disease spinal muscular atrophy (SMA) is attributable to reduced levels of the ubiquitous protein SMN. Here, we report that SMN levels are widely variable in MNs within a single genetic background and that this heterogeneity is seen not only in SMA MNs but also in MNs derived from controls and amyotrophic lateral sclerosis (ALS) patients. Furthermore, cells with low SMN are more susceptible to cell death...
February 7, 2017: Cell Reports
https://www.readbyqxmd.com/read/28170115/radiofrequency-ablation-of-hepatocellular-carcinoma-as-bridge-therapy-to-liver-transplantation-a-ten-year-intention-to-treat-analysis
#3
Min Woo Lee, Steven S Raman, Nazanin H Asvadi, Surachate Siripongsakun, Robert M Hicks, Jeffrey Chen, Akeanong Worakitsitisatorn, Justin McWilliams, Myron J Tong, Richard S Finn, Vatche G Agopian, Ronald W Busuttil, David S K Lu
: In a long-term (10 years) study of radiofrequency ablation (RFA) of hepatocellular carcinoma (HCC) as bridging therapy in patients listed for orthotopic liver transplantation (LT), we evaluated the impact of RFA on waiting list dropout rate, post-LT tumor recurrence, and long-term intention to treat, disease-specific survival. From March 2004 to October 2014, RFA was performed as the initial stand-alone bridge therapy to LT for 121 patients (male:female = 83:38; mean age, 60.0 years) with 156 de-novo HCCs (mean size: 2...
February 7, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28169528/the-essential-role-for-laboratory-studies-in-atmospheric-chemistry
#4
James B Burkholder, Jonathan P D Abbatt, Ian Barnes, James M Roberts, Megan L Melamed, Markus Ammann, Allan K Bertram, Christopher David Cappa, Ann Marie Grover Carlton, Lucy J Carpenter, John Nicholas Crowley, Yael Dubowski, Christian George, Dwayne E Heard, Hartmut Herrmann, Frank N Keutsch, Jesse H Kroll, V Faye McNeill, Nga Lee Ng, Sergey A Nizkorodov, John J Orlando, Carl John Percival, Bénédicte Picquet-Varrault, Yinon Rudich, Paul W Seakins, Jason Douglas Surratt, Hiroshi Tanimoto, Joel A Thornton, Tong Zhu, Geoffrey S Tyndall, Andreas Wahner, Charles J Weschler, Kevin R Wilson, Paul Jeffrey Ziemann
Laboratory studies of atmospheric chemistry characterize the nature of atmospherically relevant processes down to the molecular level, providing fundamental information used to assess how human activities drive environmental phenomena such as climate change, urban air pollution, ecosystem health, indoor air quality, and stratospheric ozone depletion. Laboratory studies have a central role in addressing the incomplete fundamental knowledge of atmospheric chemistry. This article highlights the evolving science needs for this community and emphasizes how our knowledge is far from complete, hindering our ability to predict the future state of our atmosphere and to respond to emerging global environmental change issues...
February 7, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28146470/rare-and-low-frequency-coding-variants-alter-human-adult-height
#5
Eirini Marouli, Mariaelisa Graff, Carolina Medina-Gomez, Ken Sin Lo, Andrew R Wood, Troels R Kjaer, Rebecca S Fine, Yingchang Lu, Claudia Schurmann, Heather M Highland, Sina Rüeger, Gudmar Thorleifsson, Anne E Justice, David Lamparter, Kathleen E Stirrups, Valérie Turcot, Kristin L Young, Thomas W Winkler, Tõnu Esko, Tugce Karaderi, Adam E Locke, Nicholas G D Masca, Maggie C Y Ng, Poorva Mudgal, Manuel A Rivas, Sailaja Vedantam, Anubha Mahajan, Xiuqing Guo, Goncalo Abecasis, Katja K Aben, Linda S Adair, Dewan S Alam, Eva Albrecht, Kristine H Allin, Matthew Allison, Philippe Amouyel, Emil V Appel, Dominique Arveiler, Folkert W Asselbergs, Paul L Auer, Beverley Balkau, Bernhard Banas, Lia E Bang, Marianne Benn, Sven Bergmann, Lawrence F Bielak, Matthias Blüher, Heiner Boeing, Eric Boerwinkle, Carsten A Böger, Lori L Bonnycastle, Jette Bork-Jensen, Michiel L Bots, Erwin P Bottinger, Donald W Bowden, Ivan Brandslund, Gerome Breen, Murray H Brilliant, Linda Broer, Amber A Burt, Adam S Butterworth, David J Carey, Mark J Caulfield, John C Chambers, Daniel I Chasman, Yii-Der Ida Chen, Rajiv Chowdhury, Cramer Christensen, Audrey Y Chu, Massimiliano Cocca, Francis S Collins, James P Cook, Janie Corley, Jordi Corominas Galbany, Amanda J Cox, Gabriel Cuellar-Partida, John Danesh, Gail Davies, Paul I W de Bakker, Gert J de Borst, Simon de Denus, Mark C H de Groot, Renée de Mutsert, Ian J Deary, George Dedoussis, Ellen W Demerath, Anneke I den Hollander, Joe G Dennis, Emanuele Di Angelantonio, Fotios Drenos, Mengmeng Du, Alison M Dunning, Douglas F Easton, Tapani Ebeling, Todd L Edwards, Patrick T Ellinor, Paul Elliott, Evangelos Evangelou, Aliki-Eleni Farmaki, Jessica D Faul, Mary F Feitosa, Shuang Feng, Ele Ferrannini, Marco M Ferrario, Jean Ferrieres, Jose C Florez, Ian Ford, Myriam Fornage, Paul W Franks, Ruth Frikke-Schmidt, Tessel E Galesloot, Wei Gan, Ilaria Gandin, Paolo Gasparini, Vilmantas Giedraitis, Ayush Giri, Giorgia Girotto, Scott D Gordon, Penny Gordon-Larsen, Mathias Gorski, Niels Grarup, Megan L Grove, Vilmundur Gudnason, Stefan Gustafsson, Torben Hansen, Kathleen Mullan Harris, Tamara B Harris, Andrew T Hattersley, Caroline Hayward, Liang He, Iris M Heid, Kauko Heikkilä, Øyvind Helgeland, Jussi Hernesniemi, Alex W Hewitt, Lynne J Hocking, Mette Hollensted, Oddgeir L Holmen, G Kees Hovingh, Joanna M M Howson, Carel B Hoyng, Paul L Huang, Kristian Hveem, M Arfan Ikram, Erik Ingelsson, Anne U Jackson, Jan-Håkan Jansson, Gail P Jarvik, Gorm B Jensen, Min A Jhun, Yucheng Jia, Xuejuan Jiang, Stefan Johansson, Marit E Jørgensen, Torben Jørgensen, Pekka Jousilahti, J Wouter Jukema, Bratati Kahali, René S Kahn, Mika Kähönen, Pia R Kamstrup, Stavroula Kanoni, Jaakko Kaprio, Maria Karaleftheri, Sharon L R Kardia, Fredrik Karpe, Frank Kee, Renske Keeman, Lambertus A Kiemeney, Hidetoshi Kitajima, Kirsten B Kluivers, Thomas Kocher, Pirjo Komulainen, Jukka Kontto, Jaspal S Kooner, Charles Kooperberg, Peter Kovacs, Jennifer Kriebel, Helena Kuivaniemi, Sébastien Küry, Johanna Kuusisto, Martina La Bianca, Markku Laakso, Timo A Lakka, Ethan M Lange, Leslie A Lange, Carl D Langefeld, Claudia Langenberg, Eric B Larson, I-Te Lee, Terho Lehtimäki, Cora E Lewis, Huaixing Li, Jin Li, Ruifang Li-Gao, Honghuang Lin, Li-An Lin, Xu Lin, Lars Lind, Jaana Lindström, Allan Linneberg, Yeheng Liu, Yongmei Liu, Artitaya Lophatananon, Jian'an Luan, Steven A Lubitz, Leo-Pekka Lyytikäinen, David A Mackey, Pamela A F Madden, Alisa K Manning, Satu Männistö, Gaëlle Marenne, Jonathan Marten, Nicholas G Martin, Angela L Mazul, Karina Meidtner, Andres Metspalu, Paul Mitchell, Karen L Mohlke, Dennis O Mook-Kanamori, Anna Morgan, Andrew D Morris, Andrew P Morris, Martina Müller-Nurasyid, Patricia B Munroe, Mike A Nalls, Matthias Nauck, Christopher P Nelson, Matt Neville, Sune F Nielsen, Kjell Nikus, Pål R Njølstad, Børge G Nordestgaard, Ioanna Ntalla, Jeffrey R O'Connel, Heikki Oksa, Loes M Olde Loohuis, Roel A Ophoff, Katharine R Owen, Chris J Packard, Sandosh Padmanabhan, Colin N A Palmer, Gerard Pasterkamp, Aniruddh P Patel, Alison Pattie, Oluf Pedersen, Peggy L Peissig, Gina M Peloso, Craig E Pennell, Markus Perola, James A Perry, John R B Perry, Thomas N Person, Ailith Pirie, Ozren Polasek, Danielle Posthuma, Olli T Raitakari, Asif Rasheed, Rainer Rauramaa, Dermot F Reilly, Alex P Reiner, Frida Renström, Paul M Ridker, John D Rioux, Neil Robertson, Antonietta Robino, Olov Rolandsson, Igor Rudan, Katherine S Ruth, Danish Saleheen, Veikko Salomaa, Nilesh J Samani, Kevin Sandow, Yadav Sapkota, Naveed Sattar, Marjanka K Schmidt, Pamela J Schreiner, Matthias B Schulze, Robert A Scott, Marcelo P Segura-Lepe, Svati Shah, Xueling Sim, Suthesh Sivapalaratnam, Kerrin S Small, Albert Vernon Smith, Jennifer A Smith, Lorraine Southam, Timothy D Spector, Elizabeth K Speliotes, John M Starr, Valgerdur Steinthorsdottir, Heather M Stringham, Michael Stumvoll, Praveen Surendran, Leen M 't Hart, Katherine E Tansey, Jean-Claude Tardif, Kent D Taylor, Alexander Teumer, Deborah J Thompson, Unnur Thorsteinsdottir, Betina H Thuesen, Anke Tönjes, Gerard Tromp, Stella Trompet, Emmanouil Tsafantakis, Jaakko Tuomilehto, Anne Tybjaerg-Hansen, Jonathan P Tyrer, Rudolf Uher, André G Uitterlinden, Sheila Ulivi, Sander W van der Laan, Andries R Van Der Leij, Cornelia M van Duijn, Natasja M van Schoor, Jessica van Setten, Anette Varbo, Tibor V Varga, Rohit Varma, Digna R Velez Edwards, Sita H Vermeulen, Henrik Vestergaard, Veronique Vitart, Thomas F Vogt, Diego Vozzi, Mark Walker, Feijie Wang, Carol A Wang, Shuai Wang, Yiqin Wang, Nicholas J Wareham, Helen R Warren, Jennifer Wessel, Sara M Willems, James G Wilson, Daniel R Witte, Michael O Woods, Ying Wu, Hanieh Yaghootkar, Jie Yao, Pang Yao, Laura M Yerges-Armstrong, Robin Young, Eleftheria Zeggini, Xiaowei Zhan, Weihua Zhang, Jing Hua Zhao, Wei Zhao, Wei Zhao, He Zheng, Wei Zhou, Jerome I Rotter, Michael Boehnke, Sekar Kathiresan, Mark I McCarthy, Cristen J Willer, Kari Stefansson, Ingrid B Borecki, Dajiang J Liu, Kari E North, Nancy L Heard-Costa, Tune H Pers, Cecilia M Lindgren, Claus Oxvig, Zoltán Kutalik, Fernando Rivadeneira, Ruth J F Loos, Timothy M Frayling, Joel N Hirschhorn, Panos Deloukas, Guillaume Lettre
Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height-increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors...
February 9, 2017: Nature
https://www.readbyqxmd.com/read/28144947/comparative-primate-obstetrics-observations-of-15-diurnal-births-in-wild-gelada-monkeys-theropithecus-gelada-and-their-implications-for-understanding-human-and-nonhuman-primate-birth-evolution
#6
Nga Nguyen, Laura M Lee, Peter J Fashing, Niina O Nurmi, Kathrine M Stewart, Taylor J Turner, Tyler S Barry, Kadie R Callingham, C Barret Goodale, Bryce S Kellogg, Ryan J Burke, Emily K Bechtold, Megan J Claase, G Anita Eriksen, Sorrel C Z Jones, Jeffrey T Kerby, Jacob B Kraus, Carrie M Miller, Thomas H Trew, Yi Zhao, Evan C Beierschmitt, Malcolm S Ramsay, Jason D Reynolds, Vivek V Venkataraman
OBJECTIVES: The birth process has been studied extensively in many human societies, yet little is known about this essential life history event in other primates. Here, we provide the most detailed account of behaviors surrounding birth for any wild nonhuman primate to date. MATERIALS AND METHODS: Over a recent ∼10-year period, we directly observed 15 diurnal births (13 live births and 2 stillbirths) among geladas (Theropithecus gelada) at Guassa, Ethiopia. During each birth, we recorded the occurrence (or absence) of 16 periparturitional events, chosen for their potential to provide comparative evolutionary insights into the factors that shaped birth behaviors in humans and other primates...
February 1, 2017: American Journal of Physical Anthropology
https://www.readbyqxmd.com/read/28139024/anatomic-patterns-of-recurrence-following-biochemical-relapse-after-post-prostatectomy-salvage-radiation-therapy-a-multi-institutional-study
#7
William C Jackson, Neil Desai, Ahmed E Abugharib, Vasu Tumati, Robert T Dess, Jae Y Lee, Shuang G Zhao, Moaaz Soliman, Michael Folkert, Aaron Laine, Raquibul Hannan, Zachary S Zumsteg, Howard Sandler, Daniel A Hamstra, Jeffrey S Montgomery, David C Miller, Mike A Kozminski, Brent K Hollenbeck, Jason W Hearn, Ganesh Palapattu, Scott A Tomlins, Rohit Mehra, Todd M Morgan, Felix Y Feng, Daniel E Spratt
OBJECTIVES: To characterize the frequency and detailed anatomic sites of failure for patients receiving post-radical prostatectomy (RP) salvage radiation therapy (SRT). MATERIALS/METHODS: A multi-institutional retrospective study was performed on 574 men who underwent SRT between 1986 and 2013. Anatomical recurrence patterns were classified as lymphotropic (lymph nodes only), osteotropic (bone only), or multifocal if both were present. Isolated first failure sites were defined as sites of initial clinically detected recurrence that remained isolated for at least 3 months...
January 31, 2017: BJU International
https://www.readbyqxmd.com/read/28135150/phase-iii-randomized-study-of-4-weeks-of-high-dose-interferon-%C3%AE-2b-in-stage-t2bno-t3a-bno-t4a-bno-and-t1-4n1a-2a-microscopic-melanoma-a-trial-of-the-eastern-cooperative-oncology-group-american-college-of-radiology-imaging-network-cancer-research-group-e1697
#8
Sanjiv S Agarwala, Sandra J Lee, Waiki Yip, Uma N Rao, Ahmad A Tarhini, Gary I Cohen, Douglas S Reintgen, Terry L Evans, Joanna M Brell, Mark R Albertini, Michael B Atkins, Shaker R Dakhil, Robert M Conry, Jeffrey A Sosman, Lawrence E Flaherty, Vernon K Sondak, William E Carson, Michael G Smylie, Alberto S Pappo, Richard F Kefford, John M Kirkwood
Purpose To test the efficacy of 4 weeks of intravenous (IV) induction with high-dose interferon (IFN) as part of the Eastern Cooperative Oncology Group regimen compared with observation (OBS) in patients with surgically resected intermediate-risk melanoma. Patients and Methods In this intergroup international trial, eligible patients had surgically resected cutaneous melanoma in the following categories: (1) T2bN0, (2) T3a-bN0, (3) T4a-bN0, and (4) T1-4N1a-2a (microscopic). Patients were randomly assigned to receive IFN α-2b at 20 MU/m(2)/d IV for 5 days (Monday to Friday) every week for 4 weeks (IFN) or OBS...
January 30, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28108517/sdhd-promoter-mutations-ablate-gabp-transcription-factor-binding-in-melanoma
#9
Tongwu Zhang, Mai Xu, Matthew M Makowski, Christine Lee, Michael Kovacs, Jun Fang, Esther Willems, Jeffrey M Trent, Nicholas K Hayward, Michiel Vermeulen, Kevin M Brown
SDHD encodes subunit D of the succinate dehydrogenase complex, an integral membrane protein. Across cancer types, recurrent SDHD promoter mutations were reported to occur exclusively in melanomas, at a frequency of 4-5%. These mutations are predicted to disrupt consensus ETS-transcription factor binding sites and are correlated with both reduced SDHD gene expression and poor prognosis. However, the consequence of these mutations on SDHD expression in melanoma is still unclear. Here, we found that expression of SDHD in melanoma correlated with the expression of multiple ETS-transcription factors, particularly in SDHD promoter wild-type samples...
January 20, 2017: Cancer Research
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
#10
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
#11
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 19, 2017: Nature
https://www.readbyqxmd.com/read/28067620/characterisation-of-the-opposing-effects-of-g6pd-deficiency-on-cerebral-malaria-and-severe-malarial-anaemia
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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...
February 2017: 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
#19
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
#20
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
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