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https://www.readbyqxmd.com/read/29930110/analysis-of-shared-heritability-in-common-disorders-of-the-brain
#1
Verneri Anttila, Brendan Bulik-Sullivan, Hilary K Finucane, Raymond K Walters, Jose Bras, Laramie Duncan, Valentina Escott-Price, Guido J Falcone, Padhraig Gormley, Rainer Malik, Nikolaos A Patsopoulos, Stephan Ripke, Zhi Wei, Dongmei Yu, Phil H Lee, Patrick Turley, Benjamin Grenier-Boley, Vincent Chouraki, Yoichiro Kamatani, Claudine Berr, Luc Letenneur, Didier Hannequin, Philippe Amouyel, Anne Boland, Jean-François Deleuze, Emmanuelle Duron, Badri N Vardarajan, Christiane Reitz, Alison M Goate, Matthew J Huentelman, M Ilyas Kamboh, Eric B Larson, Ekaterina Rogaeva, Peter St George-Hyslop, Hakon Hakonarson, Walter A Kukull, Lindsay A Farrer, Lisa L Barnes, Thomas G Beach, F Yesim Demirci, Elizabeth Head, Christine M Hulette, Gregory A Jicha, John S K Kauwe, Jeffrey A Kaye, James B Leverenz, Allan I Levey, Andrew P Lieberman, Vernon S Pankratz, Wayne W Poon, Joseph F Quinn, Andrew J Saykin, Lon S Schneider, Amanda G Smith, Joshua A Sonnen, Robert A Stern, Vivianna M Van Deerlin, Linda J Van Eldik, Denise Harold, Giancarlo Russo, David C Rubinsztein, Anthony Bayer, Magda Tsolaki, Petra Proitsi, Nick C Fox, Harald Hampel, Michael J Owen, Simon Mead, Peter Passmore, Kevin Morgan, Markus M Nöthen, Martin Rossor, Michelle K Lupton, Per Hoffmann, Johannes Kornhuber, Brian Lawlor, Andrew McQuillin, Ammar Al-Chalabi, Joshua C Bis, Agustin Ruiz, Mercè Boada, Sudha Seshadri, Alexa Beiser, Kenneth Rice, Sven J van der Lee, Philip L De Jager, Daniel H Geschwind, Matthias Riemenschneider, Steffi Riedel-Heller, Jerome I Rotter, Gerhard Ransmayr, Bradley T Hyman, Carlos Cruchaga, Montserrat Alegret, Bendik Winsvold, Priit Palta, Kai-How Farh, Ester Cuenca-Leon, Nicholas Furlotte, Tobias Kurth, Lannie Ligthart, Gisela M Terwindt, Tobias Freilinger, Caroline Ran, Scott D Gordon, Guntram Borck, Hieab H H Adams, Terho Lehtimäki, Juho Wedenoja, Julie E Buring, Markus Schürks, Maria Hrafnsdottir, Jouke-Jan Hottenga, Brenda Penninx, Ville Artto, Mari Kaunisto, Salli Vepsäläinen, Nicholas G Martin, Grant W Montgomery, Mitja I Kurki, Eija Hämäläinen, Hailiang Huang, Jie Huang, Cynthia Sandor, Caleb Webber, Bertram Muller-Myhsok, Stefan Schreiber, Veikko Salomaa, Elizabeth Loehrer, Hartmut Göbel, Alfons Macaya, Patricia Pozo-Rosich, Thomas Hansen, Thomas Werge, Jaakko Kaprio, Andres Metspalu, Christian Kubisch, Michel D Ferrari, Andrea C Belin, Arn M J M van den Maagdenberg, John-Anker Zwart, Dorret Boomsma, Nicholas Eriksson, Jes Olesen, Daniel I Chasman, Dale R Nyholt, Andreja Avbersek, Larry Baum, Samuel Berkovic, Jonathan Bradfield, Russell Buono, Claudia B Catarino, Patrick Cossette, Peter De Jonghe, Chantal Depondt, Dennis Dlugos, Thomas N Ferraro, Jacqueline French, Helle Hjalgrim, Jennifer Jamnadas-Khoda, Reetta Kälviäinen, Wolfram S Kunz, Holger Lerche, Costin Leu, Dick Lindhout, Warren Lo, Daniel Lowenstein, Mark McCormack, Rikke S Møller, Anne Molloy, Ping-Wing Ng, Karen Oliver, Michael Privitera, Rodney Radtke, Ann-Kathrin Ruppert, Thomas Sander, Steven Schachter, Christoph Schankin, Ingrid Scheffer, Susanne Schoch, Sanjay M Sisodiya, Philip Smith, Michael Sperling, Pasquale Striano, Rainer Surges, G Neil Thomas, Frank Visscher, Christopher D Whelan, Federico Zara, Erin L Heinzen, Anthony Marson, Felicitas Becker, Hans Stroink, Fritz Zimprich, Thomas Gasser, Raphael Gibbs, Peter Heutink, Maria Martinez, Huw R Morris, Manu Sharma, Mina Ryten, Kin Y Mok, Sara Pulit, Steve Bevan, Elizabeth Holliday, John Attia, Thomas Battey, Giorgio Boncoraglio, Vincent Thijs, Wei-Min Chen, Braxton Mitchell, Peter Rothwell, Pankaj Sharma, Cathie Sudlow, Astrid Vicente, Hugh Markus, Christina Kourkoulis, Joana Pera, Miriam Raffeld, Scott Silliman, Vesna Boraska Perica, Laura M Thornton, Laura M Huckins, N William Rayner, Cathryn M Lewis, Monica Gratacos, Filip Rybakowski, Anna Keski-Rahkonen, Anu Raevuori, James I Hudson, Ted Reichborn-Kjennerud, Palmiero Monteleone, Andreas Karwautz, Katrin Mannik, Jessica H Baker, Julie K O'Toole, Sara E Trace, Oliver S P Davis, Sietske G Helder, Stefan Ehrlich, Beate Herpertz-Dahlmann, Unna N Danner, Annemarie A van Elburg, Maurizio Clementi, Monica Forzan, Elisa Docampo, Jolanta Lissowska, Joanna Hauser, Alfonso Tortorella, Mario Maj, Fragiskos Gonidakis, Konstantinos Tziouvas, Hana Papezova, Zeynep Yilmaz, Gudrun Wagner, Sarah Cohen-Woods, Stefan Herms, Antonio Julià, Raquel Rabionet, Danielle M Dick, Samuli Ripatti, Ole A Andreassen, Thomas Espeseth, Astri J Lundervold, Vidar M Steen, Dalila Pinto, Stephen W Scherer, Harald Aschauer, Alexandra Schosser, Lars Alfredsson, Leonid Padyukov, Katherine A Halmi, James Mitchell, Michael Strober, Andrew W Bergen, Walter Kaye, Jin Peng Szatkiewicz, Bru Cormand, Josep Antoni Ramos-Quiroga, Cristina Sánchez-Mora, Marta Ribasés, Miguel Casas, Amaia Hervas, Maria Jesús Arranz, Jan Haavik, Tetyana Zayats, Stefan Johansson, Nigel Williams, Astrid Dempfle, Aribert Rothenberger, Jonna Kuntsi, Robert D Oades, Tobias Banaschewski, Barbara Franke, Jan K Buitelaar, Alejandro Arias Vasquez, Alysa E Doyle, Andreas Reif, Klaus-Peter Lesch, Christine Freitag, Olga Rivero, Haukur Palmason, Marcel Romanos, Kate Langley, Marcella Rietschel, Stephanie H Witt, Soeren Dalsgaard, Anders D Børglum, Irwin Waldman, Beth Wilmot, Nikolas Molly, Claiton H D Bau, Jennifer Crosbie, Russell Schachar, Sandra K Loo, James J McGough, Eugenio H Grevet, Sarah E Medland, Elise Robinson, Lauren A Weiss, Elena Bacchelli, Anthony Bailey, Vanessa Bal, Agatino Battaglia, Catalina Betancur, Patrick Bolton, Rita Cantor, Patrícia Celestino-Soper, Geraldine Dawson, Silvia De Rubeis, Frederico Duque, Andrew Green, Sabine M Klauck, Marion Leboyer, Pat Levitt, Elena Maestrini, Shrikant Mane, Daniel Moreno- De-Luca, Jeremy Parr, Regina Regan, Abraham Reichenberg, Sven Sandin, Jacob Vorstman, Thomas Wassink, Ellen Wijsman, Edwin Cook, Susan Santangelo, Richard Delorme, Bernadette Rogé, Tiago Magalhaes, Dan Arking, Thomas G Schulze, Robert C Thompson, Jana Strohmaier, Keith Matthews, Ingrid Melle, Derek Morris, Douglas Blackwood, Andrew McIntosh, Sarah E Bergen, Martin Schalling, Stéphane Jamain, Anna Maaser, Sascha B Fischer, Céline S Reinbold, Janice M Fullerton, José Guzman-Parra, Fermin Mayoral, Peter R Schofield, Sven Cichon, Thomas W Mühleisen, Franziska Degenhardt, Johannes Schumacher, Michael Bauer, Philip B Mitchell, Elliot S Gershon, John Rice, James B Potash, Peter P Zandi, Nick Craddock, I Nicol Ferrier, Martin Alda, Guy A Rouleau, Gustavo Turecki, Roel Ophoff, Carlos Pato, Adebayo Anjorin, Eli Stahl, Markus Leber, Piotr M Czerski, Cristiana Cruceanu, Ian R Jones, Danielle Posthuma, Till F M Andlauer, Andreas J Forstner, Fabian Streit, Bernhard T Baune, Tracy Air, Grant Sinnamon, Naomi R Wray, Donald J MacIntyre, David Porteous, Georg Homuth, Margarita Rivera, Jakob Grove, Christel M Middeldorp, Ian Hickie, Michele Pergadia, Divya Mehta, Johannes H Smit, Rick Jansen, Eco de Geus, Erin Dunn, Qingqin S Li, Matthias Nauck, Robert A Schoevers, Aartjan Tf Beekman, James A Knowles, Alexander Viktorin, Paul Arnold, Cathy L Barr, Gabriel Bedoya-Berrio, O Joseph Bienvenu, Helena Brentani, Christie Burton, Beatriz Camarena, Carolina Cappi, Danielle Cath, Maria Cavallini, Daniele Cusi, Sabrina Darrow, Damiaan Denys, Eske M Derks, Andrea Dietrich, Thomas Fernandez, Martijn Figee, Nelson Freimer, Gloria Gerber, Marco Grados, Erica Greenberg, Gregory L Hanna, Andreas Hartmann, Matthew E Hirschtritt, Pieter J Hoekstra, Alden Huang, Chaim Huyser, Cornelia Illmann, Michael Jenike, Samuel Kuperman, Bennett Leventhal, Christine Lochner, Gholson J Lyon, Fabio Macciardi, Marcos Madruga-Garrido, Irene A Malaty, Athanasios Maras, Lauren McGrath, Eurípedes C Miguel, Pablo Mir, Gerald Nestadt, Humberto Nicolini, Michael S Okun, Andrew Pakstis, Peristera Paschou, John Piacentini, Christopher Pittenger, Kerstin Plessen, Vasily Ramensky, Eliana M Ramos, Victor Reus, Margaret A Richter, Mark A Riddle, Mary M Robertson, Veit Roessner, Maria Rosário, Jack F Samuels, Paul Sandor, Dan J Stein, Fotis Tsetsos, Filip Van Nieuwerburgh, Sarah Weatherall, Jens R Wendland, Tomasz Wolanczyk, Yulia Worbe, Gwyneth Zai, Fernando S Goes, Nicole McLaughlin, Paul S Nestadt, Hans-Jorgen Grabe, Christel Depienne, Anuar Konkashbaev, Nuria Lanzagorta, Ana Valencia-Duarte, Elvira Bramon, Nancy Buccola, Wiepke Cahn, Murray Cairns, Siow A Chong, David Cohen, Benedicto Crespo-Facorro, James Crowley, Michael Davidson, Lynn DeLisi, Timothy Dinan, Gary Donohoe, Elodie Drapeau, Jubao Duan, Lieuwe Haan, David Hougaard, Sena Karachanak-Yankova, Andrey Khrunin, Janis Klovins, Vaidutis Kučinskas, Jimmy Lee Chee Keong, Svetlana Limborska, Carmel Loughland, Jouko Lönnqvist, Brion Maher, Manuel Mattheisen, Colm McDonald, Kieran C Murphy, Igor Nenadic, Jim van Os, Christos Pantelis, Michele Pato, Tracey Petryshen, Digby Quested, Panos Roussos, Alan R Sanders, Ulrich Schall, Sibylle G Schwab, Kang Sim, Hon-Cheong So, Elisabeth Stögmann, Mythily Subramaniam, Draga Toncheva, John Waddington, James Walters, Mark Weiser, Wei Cheng, Robert Cloninger, David Curtis, Pablo V Gejman, Frans Henskens, Morten Mattingsdal, Sang-Yun Oh, Rodney Scott, Bradley Webb, Gerome Breen, Claire Churchhouse, Cynthia M Bulik, Mark Daly, Martin Dichgans, Stephen V Faraone, Rita Guerreiro, Peter Holmans, Kenneth S Kendler, Bobby Koeleman, Carol A Mathews, Alkes Price, Jeremiah Scharf, Pamela Sklar, Julie Williams, Nicholas W Wood, Chris Cotsapas, Aarno Palotie, Jordan W Smoller, Patrick Sullivan, Jonathan Rosand, Aiden Corvin, Benjamin M Neale, Jonathan M Schott, Richard Anney, Josephine Elia, Maria Grigoroiu-Serbanescu, Howard J Edenberg, Robin Murray
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified the genetic sharing of 25 brain disorders from genome-wide association studies of 265,218 patients and 784,643 control participants and assessed their relationship to 17 phenotypes from 1,191,588 individuals. Psychiatric disorders share common variant risk, whereas neurological disorders appear more distinct from one another and from the psychiatric disorders...
June 22, 2018: Science
https://www.readbyqxmd.com/read/29735365/human-cd19-targeted-mouse-t-cells-induce-b-cell-aplasia-and-toxicity-in-human-cd19-transgenic-mice
#2
Christopher A Pennell, Jessie L Barnum, Cameron S McDonald-Hyman, Angela Panoskaltsis-Mortari, Megan J Riddle, Zhengming Xiong, Michael Loschi, Govindarajan Thangavelu, Heather M Campbell, Meghan D Storlie, Yosef Refaeli, Scott N Furlan, Michael C Jensen, Leslie S Kean, Jeffrey S Miller, Jakub Tolar, Mark J Osborn, Bruce R Blazar
The clinical success of chimeric antigen receptor (CAR) T cell therapy for CD19+ B cell malignancies can be limited by acute toxicities and immunoglobulin replacement needs due to B cell aplasia from persistent CAR T cells. Life-threatening complications include cytokine release syndrome and neurologic adverse events, the exact etiologies of which are unclear. To elucidate the underlying toxicity mechanisms and test potentially safer CAR T cells, we developed a mouse model in which human CD19 (hCD19)-specific mouse CAR T cells were adoptively transferred into mice whose normal B cells express a hCD19 transgene at hemizygous levels...
June 6, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29705034/preclinical-mri-studies-of-the-irradiated-brain
#3
Joel R Garbow, Christina I Tsien, Scott C Beeman
Radiation therapy (RT) plays a central role in the treatment of primary brain tumors. However, despite recent advances in RT treatment, local recurrences following therapy remain common. Radiation necrosis (RN) is a severe, late complication of radiation therapy in the brain. RN is a serious clinical problem often associated with devastating neurologic complications. Therapeutic strategies, including neuroprotectants, have been described, but have not been widely translated in routine clinical use. We have developed a mouse model that recapitulates all of the major pathologic features of late-onset RN for the purposes of characterizing the basic pathogenesis of RN, identifying non-invasive (imaging) biomarkers of RN that might allow for the radiologic discernment of tumor and RN, systematic testing of tumor and RN therapeutics, and exploring the complex interplay between RN pathogenesis and tumor recurrence...
July 2018: Journal of Magnetic Resonance
https://www.readbyqxmd.com/read/29355465/predictors-of-readmission-to-acute-care-during-inpatient-rehabilitation-for-non-traumatic-spinal-cord-injury
#4
David M Robinson, Moussa S Bazzi, Scott R Millis, Ali A Bitar
OBJECTIVES: To investigate the frequency of and reasons for readmissions to acute care (RTAC) during inpatient rehabilitation (IPR) after non-traumatic spinal cord injury (NT-SCI). To develop a predictive model for RTAC using identified risk factors. DESIGN: Retrospective case-control. SETTING: Academic IPR hospital. PARTICIPANTS: Individuals with NT-SCI admitted to an academic SCI rehabilitation unit from January 2014-December 2015...
July 2018: Journal of Spinal Cord Medicine
https://www.readbyqxmd.com/read/28512589/a-case-of-early-disseminated-neurological-lyme-disease-followed-by-atypical-cutaneous-manifestations
#5
Vamsi Kantamaneni, Vikas Sunder, Mohammad Bilal, Scott Vargo
Lyme disease (LD) is a tick-borne illness caused by Borrelia burgdorferi sensu stricto . An 80-year-old female from Pennsylvania, USA, presented to an outside hospital with fever, confusion, lower extremity weakness, and stool incontinence. CT head and MRI spine were unremarkable. An infectious work-up including lumbar puncture was negative. She was transferred to our tertiary care hospital. Patient was noted to have mild unilateral right-sided facial droop and a diffuse macular rash throughout the body. She denied any outdoor activities, tick bites, or previous rash...
2017: Case Reports in Infectious Diseases
https://www.readbyqxmd.com/read/28478695/prevention-of-neurocognitive-deficiency-in-mucopolysaccharidosis-type-ii-mice-by-central-nervous-system-directed-aav9-mediated-iduronate-sulfatase-gene-transfer
#6
Kanut Laoharawee, Kelly M Podetz-Pedersen, Tam T Nguyen, Laura B Evenstar, Kelley F Kitto, Zhenhong Nan, Carolyn A Fairbanks, Walter C Low, Karen F Kozarsky, R Scott McIvor
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive lysosomal disorder caused by defective iduronate-2-sulfatase (IDS), resulting in accumulation of heparan sulfate and dermatan sulfate glycosaminoglycans (GAGs). Enzyme replacement is the only Food and Drug Administration-approved therapy available for MPS II, but it is expensive and does not improve neurologic outcomes in MPS II patients. This study evaluated the effectiveness of adeno-associated virus (AAV) vector encoding human IDS delivered intracerebroventricularly in a murine model of MPS II...
August 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/27626920/immunizing-patients-with-adverse-events-after-immunization-and-potential-contraindications-to-immunization-a-report-from-the-special-immunization-clinics-network
#7
Karina A Top, Marie-Noelle Billard, Marie-Claude Gariepy, Isabelle Rouleau, Jeffrey M Pernica, Anne Pham-Huy, Caroline Quach, Dat Tran, Wendy Vaudry, Simon Dobson, François D Boucher, Alex Carignan, Taj Jadavji, Athena McConnell, Shelly A McNeil, Scott A Halperin, Gaston De Serres
BACKGROUND: For patients who have experienced adverse events following immunization (AEFI) or who have specific medical conditions, there is limited evidence regarding the best approach to immunization. The Special Immunization Clinics (SICs) Network was established to standardize patient management and assess outcomes after reimmunization. The study objective was to describe the first 2 years of the network's implementation. METHODS: Twelve SICs were established across Canada by infectious diseases specialists and allergists...
December 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/27162711/teardrop-fracture-following-head-first-impact-in-an-ice-hockey-player-case-report-and-analysis-of-injury-mechanisms
#8
James J Yue, Paul C Ivancic, David L Scott
BACKGROUND: We report a case of a young male athlete who sustained a three column displaced teardrop fracture of the C5 vertebra due to a head-first impact in hockey, suffered neurapraxia, yet made full neurological recovery. This full recovery was in sharp contrast to multiple case series which reported permanent quadriplegia in the vast majority of teardrop fracture patients. We investigate the etiology and biomechanical mechanisms of injury. METHODS: Admission imaging revealed the teardrop fracture which consisted of: a frontal plane fracture which separated an anterior quadrilateral-shaped fragment from the posterior vertebral body; a vertical fracture of the posterior vertebral body in the sagittal plane; and incomplete fractures of the neural arch that initiated superiorly at the anterior aspect of the spinous process and left lamina adjacent to the superior facet...
2016: International Journal of Spine Surgery
https://www.readbyqxmd.com/read/27053387/cortical-damage-and-disability-in-multiple-sclerosis-relation-to-intracortical-inhibition-and-facilitation
#9
Julia C Nantes, Jidan Zhong, Scott A Holmes, Sridar Narayanan, Yves Lapierre, Lisa Koski
BACKGROUND: Multimodal research combining biomarkers of intracortical activity and cortical damage could shed light on pathophysiological and adaptive neural processes related to the clinical severity of neurological conditions such as multiple sclerosis (MS). OBJECTIVE: Among people with relapsing-remitting and progressive forms of MS, we assessed the extent to which transcranial magnetic stimulation (TMS)-based biomarkers of excitatory and inhibitory cortical activity are related to cortical damage and clinical impairment...
July 2016: Brain Stimulation
https://www.readbyqxmd.com/read/26933829/initial-destination-hospital-of-paediatric-prehospital-patients-in-rural-victoria
#10
Kate Kloot, Scott Salzman, Sue Kilpatrick, Tim Baker, Susan A Brumby
OBJECTIVE: The objective of this present study was to describe the initial destination hospital of paediatric patients transported by Ambulance Victoria paramedics within the South Western area of Victoria to determine the proportion of patients that bypassed their closest hospital. METHODS: All Ambulance Victoria primary ambulance transports for paediatric patients aged 1 month to 14 years in the Barwon South West region between 1 April 2008 and 28 February 2011 were reviewed...
April 2016: Emergency Medicine Australasia: EMA
https://www.readbyqxmd.com/read/26724631/prehospital-glasgow-coma-score-predicts-emergent-intervention-following-helicopter-transfer-for-spontaneous-subarachnoid-hemorrhage
#11
Jennifer Hong, Sebastian Rubino, Stuart Scott Lollis
BACKGROUND: Helicopter transport may shorten transport time to neurosurgical intervention; however, there are few data regarding its utility for nontraumatic emergencies. METHODS: Prehospital and hospital records of all patients transferred via helicopter to Dartmouth-Hitchcock Medical Center for spontaneous subarachnoid hemorrhage between January 2007 and December 2011 were reviewed. Primary outcome measure was emergent tertiary-level care intervention, defined as ventriculostomy, conventional angiography, endovascular treatment, or craniotomy within 3 hours of arrival...
March 2016: World Neurosurgery
https://www.readbyqxmd.com/read/26579070/reducing-errors-in-transition-from-acute-stroke-hospitalization-to-inpatient-rehabilitation
#12
Chloé E Hill, Priya Varma, David Lenrow, Raymond S Price, Scott E Kasner
OBJECTIVE: Effective stroke care does not end with acute treatment during hospitalization, but extends through rehabilitation and secondary stroke prevention. In transitions across care environments, stroke patients are vulnerable to errors in communication of diagnosis and treatment. This study aimed to demonstrate that formalized communication between the neurology team and the rehabilitation medicine team would promote secondary stroke prevention and minimize interruptions during rehabilitation...
2015: Frontiers in Neurology
https://www.readbyqxmd.com/read/26378264/computerized-adaptive-tests-detect-change-following-orthopaedic-surgery-in-youth-with-cerebral-palsy
#13
MULTICENTER STUDY
M J Mulcahey, Mary D Slavin, Pengsheng Ni, Lawrence C Vogel, Scott H Kozin, Stephen M Haley, Alan M Jette
BACKGROUND: The Cerebral Palsy Computerized Adaptive Test (CP-CAT) is a parent-reported outcomes instrument for measuring lower and upper-extremity function, activity, and global health across impairment levels and a broad age range of children with cerebral palsy (CP). This study was performed to examine whether the Lower Extremity/Mobility (LE) CP-CAT detects change in mobility following orthopaedic surgery in children with CP. METHODS: This multicenter, longitudinal study involved administration of the LE CP-CAT, the Pediatric Outcomes Data Collection Instrument (PODCI) Transfer/Mobility and Sports/Physical Functioning domains, and the Timed "Up & Go" test (TUG) before and after elective orthopaedic surgery in a convenience sample of 255 children, four to twenty years of age, who had CP and a Gross Motor Function Classification System (GMFCS) level of I, II, or III...
September 16, 2015: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/26339680/aquatic-training-in-ms-neurotherapeutic-impact-upon-quality-of-life
#14
Ashley N Frohman, Darin T Okuda, Shin Beh, Katherine Treadaway, Caroline Mooi, Scott L Davis, Anjali Shah, Teresa C Frohman, Elliot M Frohman
Three fundamental principals associated with aquatic therapy differentiate it with respect to exercise on land, and in air. These are buoyancy (reduction in weight of the body within the buoyant medium of water), viscosity (a "drag force" is generated when moving within water, when compared with the same movement in air), and the thermodynamic aspect of water exercise, during which the heat capacity of water is about 1000 times greater than that of an equivalent amount of air; equating to a heat transfer from the body into water at a rate 25 times faster than that of air...
August 2015: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/26289840/presentation-of-m-3243a-g-mt-tl1-trnaleu-variant-with-focal-neurology-in-infancy
#15
Dylan A Mordaunt, Liam C McIntyre, Hayley Salvemini, Afdal Ibrahim, Drago Bratkovic, David Ketteridge, Hamish S Scott, Karin S Kassahn, Nicholas Smith
The Mitochondrial tRNALeu (MT-TL1) mutation, m.3243A>G constitutes the commonest identified mitochondrial genome mutation. Characteristically, giving rise to MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes), a phenotypic spectrum associated with this genetic variant is now apparent. We report on the first patient with infantile hemiparesis, without comorbid encephalopathy, attributed to this variant. This further expands the recognized disease spectrum and highlights the need to consider mitochondrial genomic mutations in cases of cryptogenic focal neurological deficit in infancy...
November 2015: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/25964428/systemic-aav9-gene-transfer-in-adult-gm1-gangliosidosis-mice-reduces-lysosomal-storage-in-cns-and-extends-lifespan
#16
Cara M Weismann, Jennifer Ferreira, Allison M Keeler, Qin Su, Linghua Qui, Scott A Shaffer, Zuoshang Xu, Guangping Gao, Miguel Sena-Esteves
GM1 gangliosidosis (GM1) is an autosomal recessive lysosomal storage disease where GLB1 gene mutations result in a reduction or absence of lysosomal acid β-galactosidase (βgal) activity. βgal deficiency leads to accumulation of GM1-ganglioside in the central nervous system (CNS). GM1 is characterized by progressive neurological decline resulting in generalized paralysis, extreme emaciation and death. In this study, we assessed the therapeutic efficacy of an adeno-associated virus (AAV) 9-mβgal vector infused systemically in adult GM1 mice (βGal(-/-)) at 1 × 10(11) or 3 × 10(11) vector genomes (vg)...
August 1, 2015: Human Molecular Genetics
https://www.readbyqxmd.com/read/25144566/genetic-variation-in-iron-metabolism-is-associated-with-neuropathic-pain-and-pain-severity-in-hiv-infected-patients-on-antiretroviral-therapy
#17
Asha R Kallianpur, Peilin Jia, Ronald J Ellis, Zhongming Zhao, Cinnamon Bloss, Wanqing Wen, Christina M Marra, Todd Hulgan, David M Simpson, Susan Morgello, Justin C McArthur, David B Clifford, Ann C Collier, Benjamin B Gelman, J Allen McCutchan, Donald Franklin, David C Samuels, Debralee Rosario, Emily Holzinger, Deborah G Murdock, Scott Letendre, Igor Grant
HIV sensory neuropathy and distal neuropathic pain (DNP) are common, disabling complications associated with combination antiretroviral therapy (cART). We previously associated iron-regulatory genetic polymorphisms with a reduced risk of HIV sensory neuropathy during more neurotoxic types of cART. We here evaluated the impact of polymorphisms in 19 iron-regulatory genes on DNP in 560 HIV-infected subjects from a prospective, observational study, who underwent neurological examinations to ascertain peripheral neuropathy and structured interviews to ascertain DNP...
2014: PloS One
https://www.readbyqxmd.com/read/24766810/clp1-founder-mutation-links-trna-splicing-and-maturation-to-cerebellar-development-and-neurodegeneration
#18
Ashleigh E Schaffer, Veerle R C Eggens, Ahmet Okay Caglayan, Miriam S Reuter, Eric Scott, Nicole G Coufal, Jennifer L Silhavy, Yuanchao Xue, Hulya Kayserili, Katsuhito Yasuno, Rasim Ozgur Rosti, Mostafa Abdellateef, Caner Caglar, Paul R Kasher, J Leonie Cazemier, Marian A Weterman, Vincent Cantagrel, Na Cai, Christiane Zweier, Umut Altunoglu, N Bilge Satkin, Fesih Aktar, Beyhan Tuysuz, Cengiz Yalcinkaya, Huseyin Caksen, Kaya Bilguvar, Xiang-Dong Fu, Christopher R Trotta, Stacey Gabriel, André Reis, Murat Gunel, Frank Baas, Joseph G Gleeson
Neurodegenerative diseases can occur so early as to affect neurodevelopment. From a cohort of more than 2,000 consanguineous families with childhood neurological disease, we identified a founder mutation in four independent pedigrees in cleavage and polyadenylation factor I subunit 1 (CLP1). CLP1 is a multifunctional kinase implicated in tRNA, mRNA, and siRNA maturation. Kinase activity of the CLP1 mutant protein was defective, and the tRNA endonuclease complex (TSEN) was destabilized, resulting in impaired pre-tRNA cleavage...
April 24, 2014: Cell
https://www.readbyqxmd.com/read/23874300/a-delicate-balance-iron-metabolism-and-diseases-of-the-brain
#19
Dominic Hare, Scott Ayton, Ashley Bush, Peng Lei
Iron is the most abundant transition metal within the brain, and is vital for a number of cellular processes including neurotransmitter synthesis, myelination of neurons, and mitochondrial function. Redox cycling between ferrous and ferric iron is utilized in biology for various electron transfer reactions essential to life, yet this same chemistry mediates deleterious reactions with oxygen that induce oxidative stress. Consequently, there is a precise and tightly controlled mechanism to regulate iron in the brain...
2013: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/23727003/deciphering-the-protective-role-of-adaptive-immunity-to-chikv-ires-a-novel-candidate-vaccine-against-chikungunya-in-the-a129-mouse-model
#20
Haiyan Chu, Subash C Das, Jeremy F Fuchs, M Suresh, Scott C Weaver, Dan T Stinchcomb, Charalambos D Partidos, Jorge E Osorio
Chikungunya virus (CHIKV), a mosquito-borne alphavirus, recently re-emerged in Africa and spread to islands in the Indian Ocean, the Indian subcontinent, and to South East Asia. Viremic travelers have also imported CHIKV to the Western hemisphere highlighting the importance of CHIKV in public health. In addition to the great burden of arthralgic disease, which can persist for months or years, epidemiologic studies have estimated case-fatality rates of ∼0.1%, principally from neurologic disease in older patients...
July 18, 2013: Vaccine
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Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"