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https://www.readbyqxmd.com/read/29780865/elevated-medial-temporal-lobe-and-pervasive-brain-tau-pet-signal-in-normal-participants
#1
Val J Lowe, Tyler J Bruinsma, Hoon-Ki Min, Emily S Lundt, Ping Fang, Matthew L Senjem, Bradley F Boeve, Keith A Josephs, Mukesh K Pandey, Melissa E Murray, Kejal Kantarci, David T Jones, Christopher G Schwarz, David S Knopman, Ronald C Petersen, Clifford R Jack
Introduction: Medial temporal lobe (MTL) uptake on tau-positron emission tomography (PET) is seen not only in Alzheimer's disease (AD) dementia but also in the aging population. The relationship of these findings to the development of AD dementia needs to be better understood. Methods: Tau-PET with AV-1451 was performed on 576 cognitively unimpaired (CU) participants aged 50-94 years. The number of CUs with and without abnormal MTL regions and those with or without extra-MTL abnormalities was determined...
2018: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
https://www.readbyqxmd.com/read/29771615/risk-and-protective-factors-for-intimate-partner-violence-against-women-systematic-review-and-meta-analyses-of-prospective-longitudinal-studies
#2
Alexa R Yakubovich, Heidi Stöckl, Joseph Murray, G J Melendez-Torres, Janina I Steinert, Calla E Y Glavin, David K Humphreys
BACKGROUND: The estimated lifetime prevalence of physical or sexual intimate partner violence (IPV) is 30% among women worldwide. Understanding risk and protective factors is essential for designing effective prevention strategies. OBJECTIVES: To quantify the associations between prospective-longitudinal risk and protective factors and IPV and identify evidence gaps. SEARCH METHODS: We conducted systematic searches in 16 databases including MEDLINE and PsycINFO from inception to June 2016...
May 17, 2018: American Journal of Public Health
https://www.readbyqxmd.com/read/29746826/high-sensitivity-cardiac-troponin-i-and-risk-of-incident-atrial-fibrillation-hospitalisation-in-an-australian-community-based-cohort-the-busselton-health-study
#3
Kun Zhu, Joseph Hung, Mark Divitini, Kevin Murray, Ee Mun Lim, Andrew St John, John P Walsh, Matthew Knuiman
OBJECTIVE: The identification of individuals at risk of atrial fibrillation (AF) remains a challenge. We investigated whether high-sensitive cardiac troponin I (hs-cTnI) is an independent predictor of incident atrial fibrillation (AF) hospitalisation in an Australian community-based cohort. METHODS: Serum hs-cTnI was measured in 1641 men and 2189 women in the Busselton Health Study 1994/1995 Cohort aged 25-84 years at baseline. Data on incident AF hospitalisation over 20 years follow-up were obtained by data linkage...
May 7, 2018: Clinical Biochemistry
https://www.readbyqxmd.com/read/29741603/phenotype-and-clinical-course-of-inflammatory-bowel-disease-with-co-existent-celiac-disease
#4
Chung Sang Tse, Parakkal Deepak, Jaime De La Fuente, Adam C Bledsoe, Joseph J Larson, Joseph A Murray, Konstantinos A Papadakis
Background and Aims: Inflammatory bowel diseases, principally Crohn's disease and ulcerative colitis, and celiac disease are among the most common immune-mediated gastrointestinal diseases. We aim to elucidate the clinical course and outcomes of patients with concomitant inflammatory bowel disease and celiac disease, a unique population that remains scarcely studied to date. Methods: A retrospective matched case-control study of adults with coexistent inflammatory bowel disease and celiac disease was performed at a tertiary referral institution in North America...
May 7, 2018: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/29733722/patient-centered-precision-health-in-a-learning-health-care-system-geisinger-s-genomic-medicine-experience
#5
Marc S Williams, Adam H Buchanan, F Daniel Davis, W Andrew Faucett, Miranda L G Hallquist, Joseph B Leader, Christa L Martin, Cara Z McCormick, Michelle N Meyer, Michael F Murray, Alanna K Rahm, Marci L B Schwartz, Amy C Sturm, Jennifer K Wagner, Janet L Williams, Huntington F Willard, David H Ledbetter
Health care delivery is increasingly influenced by the emerging concepts of precision health and the learning health care system. Although not synonymous with precision health, genomics is a key enabler of individualized care. Delivering patient-centered, genomics-informed care based on individual-level data in the current national landscape of health care delivery is a daunting challenge. Problems to overcome include data generation, analysis, storage, and transfer; knowledge management and representation for patients and providers at the point of care; process management; and outcomes definition, collection, and analysis...
May 2018: Health Affairs
https://www.readbyqxmd.com/read/29732397/causes-of-death-among-children-aged-5-14-years-in-the-who-european-region-a-systematic-analysis-for-the-global-burden-of-disease-study-2016
#6
Hmwe H Kyu, Claudia E Stein, Cynthia Boschi Pinto, Ivo Rakovac, Martin W Weber, Tina Dannemann Purnat, Joseph E Amuah, Scott D Glenn, Kelly Cercy, Stan Biryukov, Audra L Gold, Adrienne Chew, Meghan D Mooney, Kevin F O'Rourke, Amber Sligar, Christopher J L Murray, Ali H Mokdad, Mohsen Naghavi
Background: The mortality burden in children aged 5-14 years in the WHO European Region has not been comprehensively studied. We assessed the distribution and trends of the main causes of death among children aged 5-9 years and 10-14 years from 1990 to 2016, for 51 countries in the WHO European Region. Methods: We used data from vital registration systems, cancer registries, and police records from 1980 to 2016 to estimate cause-specific mortality using the Cause of Death Ensemble model...
May 2018: Lancet Child & Adolescent Health
https://www.readbyqxmd.com/read/29727688/profiling-and-leveraging-relatedness-in-a-precision-medicine-cohort-of-92-455-exomes
#7
Jeffrey Staples, Evan K Maxwell, Nehal Gosalia, Claudia Gonzaga-Jauregui, Christopher Snyder, Alicia Hawes, John Penn, Ricardo Ulloa, Xiaodong Bai, Alexander E Lopez, Cristopher V Van Hout, Colm O'Dushlaine, Tanya M Teslovich, Shane E McCarthy, Suganthi Balasubramanian, H Lester Kirchner, Joseph B Leader, Michael F Murray, David H Ledbetter, Alan R Shuldiner, George D Yancoupolos, Frederick E Dewey, David J Carey, John D Overton, Aris Baras, Lukas Habegger, Jeffrey G Reid
Large-scale human genetics studies are ascertaining increasing proportions of populations as they continue growing in both number and scale. As a result, the amount of cryptic relatedness within these study cohorts is growing rapidly and has significant implications on downstream analyses. We demonstrate this growth empirically among the first 92,455 exomes from the DiscovEHR cohort and, via a custom simulation framework we developed called SimProgeny, show that these measures are in line with expectations given the underlying population and ascertainment approach...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29724592/potential-genetic-modifiers-of-disease-risk-and-age-at-onset-in-patients-with-frontotemporal-lobar-degeneration-and-grn-mutations-a-genome-wide-association-study
#8
Cyril Pottier, Xiaolai Zhou, Ralph B Perkerson, Matt Baker, Gregory D Jenkins, Daniel J Serie, Roberta Ghidoni, Luisa Benussi, Giuliano Binetti, Adolfo López de Munain, Miren Zulaica, Fermin Moreno, Isabelle Le Ber, Florence Pasquier, Didier Hannequin, Raquel Sánchez-Valle, Anna Antonell, Albert Lladó, Tammee M Parsons, NiCole A Finch, Elizabeth C Finger, Carol F Lippa, Edward D Huey, Manuela Neumann, Peter Heutink, Matthis Synofzik, Carlo Wilke, Robert A Rissman, Jaroslaw Slawek, Emilia Sitek, Peter Johannsen, Jørgen E Nielsen, Yingxue Ren, Marka van Blitterswijk, Mariely DeJesus-Hernandez, Elizabeth Christopher, Melissa E Murray, Kevin F Bieniek, Bret M Evers, Camilla Ferrari, Sara Rollinson, Anna Richardson, Elio Scarpini, Giorgio G Fumagalli, Alessandro Padovani, John Hardy, Parastoo Momeni, Raffaele Ferrari, Francesca Frangipane, Raffaele Maletta, Maria Anfossi, Maura Gallo, Leonard Petrucelli, EunRan Suh, Oscar L Lopez, Tsz H Wong, Jeroen G J van Rooij, Harro Seelaar, Simon Mead, Richard J Caselli, Eric M Reiman, Marwan Noel Sabbagh, Mads Kjolby, Anders Nykjaer, Anna M Karydas, Adam L Boxer, Lea T Grinberg, Jordan Grafman, Salvatore Spina, Adrian Oblak, M-Marsel Mesulam, Sandra Weintraub, Changiz Geula, John R Hodges, Olivier Piguet, William S Brooks, David J Irwin, John Q Trojanowski, Edward B Lee, Keith A Josephs, Joseph E Parisi, Nilüfer Ertekin-Taner, David S Knopman, Benedetta Nacmias, Irene Piaceri, Silvia Bagnoli, Sandro Sorbi, Marla Gearing, Jonathan Glass, Thomas G Beach, Sandra E Black, Mario Masellis, Ekaterina Rogaeva, Jean-Paul Vonsattel, Lawrence S Honig, Julia Kofler, Amalia C Bruni, Julie Snowden, David Mann, Stuart Pickering-Brown, Janine Diehl-Schmid, Juliane Winkelmann, Daniela Galimberti, Caroline Graff, Linn Öijerstedt, Claire Troakes, Safa Al-Sarraj, Carlos Cruchaga, Nigel J Cairns, Jonathan D Rohrer, Glenda M Halliday, John B Kwok, John C van Swieten, Charles L White, Bernardino Ghetti, Jill R Murell, Ian R A Mackenzie, Ging-Yuek R Hsiung, Barbara Borroni, Giacomina Rossi, Fabrizio Tagliavini, Zbigniew K Wszolek, Ronald C Petersen, Eileen H Bigio, Murray Grossman, Vivianna M Van Deerlin, William W Seeley, Bruce L Miller, Neill R Graff-Radford, Bradley F Boeve, Dennis W Dickson, Joanna M Biernacka, Rosa Rademakers
BACKGROUND: Loss-of-function mutations in GRN cause frontotemporal lobar degeneration (FTLD). Patients with GRN mutations present with a uniform subtype of TAR DNA-binding protein 43 (TDP-43) pathology at autopsy (FTLD-TDP type A); however, age at onset and clinical presentation are variable, even within families. We aimed to identify potential genetic modifiers of disease onset and disease risk in GRN mutation carriers. METHODS: The study was done in three stages: a discovery stage, a replication stage, and a meta-analysis of the discovery and replication data...
April 30, 2018: Lancet Neurology
https://www.readbyqxmd.com/read/29723257/pharmacological-characterization-of-potent-and-selective-nav1-7-inhibitors-engineered-from-chilobrachys-jingzhao-tarantula-venom-peptide-jztx-v
#9
Bryan D Moyer, Justin K Murray, Joseph Ligutti, Kristin Andrews, Philippe Favreau, John B Jordan, Josie H Lee, Dong Liu, Jason Long, Kelvin Sham, Licheng Shi, Reto Stöcklin, Bin Wu, Ruoyuan Yin, Violeta Yu, Anruo Zou, Kaustav Biswas, Les P Miranda
Identification of voltage-gated sodium channel NaV1.7 inhibitors for chronic pain therapeutic development is an area of vigorous pursuit. In an effort to identify more potent leads compared to our previously reported GpTx-1 peptide series, electrophysiology screening of fractionated tarantula venom discovered the NaV1.7 inhibitory peptide JzTx-V from the Chinese earth tiger tarantula Chilobrachys jingzhao. The parent peptide displayed nominal selectivity over the skeletal muscle NaV1.4 channel. Attribute-based positional scan analoging identified a key Ile28Glu mutation that improved NaV1...
2018: PloS One
https://www.readbyqxmd.com/read/29669548/performance-of-insilicova-for-assigning-causes-of-death-to-verbal-autopsies-multisite-validation-study-using-clinical-diagnostic-gold-standards
#10
Abraham D Flaxman, Jonathan C Joseph, Christopher J L Murray, Ian Douglas Riley, Alan D Lopez
BACKGROUND: Recently, a new algorithm for automatic computer certification of verbal autopsy data named InSilicoVA was published. The authors presented their algorithm as a statistical method and assessed its performance using a single set of model predictors and one age group. METHODS: We perform a standard procedure for analyzing the predictive accuracy of verbal autopsy classification methods using the same data and the publicly available implementation of the algorithm released by the authors...
April 19, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29656860/truncating-variants-in-naa15-are-associated-with-variable-levels-of-intellectual-disability-autism-spectrum-disorder-and-congenital-anomalies
#11
Hanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Robert Kleyner, Alan F Rope, Margaret Yoon, Asbjørg Stray-Pedersen, Jennifer E Posey, Sarah R Crews, Mohammad K Eldomery, Zeynep Coban Akdemir, Andrea M Lewis, Vernon R Sutton, Jill A Rosenfeld, Erin Conboy, Katherine Agre, Fan Xia, Magdalena Walkiewicz, Mauro Longoni, Frances A High, Marjon A van Slegtenhorst, Grazia M S Mancini, Candice R Finnila, Arie van Haeringen, Nicolette den Hollander, Claudia Ruivenkamp, Sakkubai Naidu, Sonal Mahida, Elizabeth E Palmer, Lucinda Murray, Derek Lim, Parul Jayakar, Michael J Parker, Stefania Giusto, Emanuela Stracuzzi, Corrado Romano, Jennifer S Beighley, Raphael A Bernier, Sébastien Küry, Mathilde Nizon, Mark A Corbett, Marie Shaw, Alison Gardner, Christopher Barnett, Ruth Armstrong, Karin S Kassahn, Anke Van Dijck, Geert Vandeweyer, Tjitske Kleefstra, Jolanda Schieving, Marjolijn J Jongmans, Bert B A de Vries, Rolph Pfundt, Bronwyn Kerr, Samantha K Rojas, Kym M Boycott, Richard Person, Rebecca Willaert, Evan E Eichler, R Frank Kooy, Yaping Yang, Joseph C Wu, James R Lupski, Thomas Arnesen, Gregory M Cooper, Wendy K Chung, Jozef Gecz, Holly A F Stessman, Linyan Meng, Gholson J Lyon
N-alpha-acetylation is a common co-translational protein modification that is essential for normal cell function in humans. We previously identified the genetic basis of an X-linked infantile lethal Mendelian disorder involving a c.109T>C (p.Ser37Pro) missense variant in NAA10, which encodes the catalytic subunit of the N-terminal acetyltransferase A (NatA) complex. The auxiliary subunit of the NatA complex, NAA15, is the dimeric binding partner for NAA10. Through a genotype-first approach with whole-exome or genome sequencing (WES/WGS) and targeted sequencing analysis, we identified and phenotypically characterized 38 individuals from 33 unrelated families with 25 different de novo or inherited, dominantly acting likely gene disrupting (LGD) variants in NAA15...
April 9, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29622097/not-all-that-flattens-villi-is-celiac-disease-a-review-of-enteropathies
#12
REVIEW
Claire L Jansson-Knodell, Isabel A Hujoel, Alberto Rubio-Tapia, Joseph A Murray
Enteropathies can be overwhelming for clinicians. There is a wide spectrum of diseases involved; their effect on patients can be severe; and their underlying cause can be obscure. In this article, we outline a practical approach to enteropathies that are most common and not to be missed and is applicable to general and specialist physicians.
April 2018: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/29615134/improving-outcomes-after-pediatric-cardiac-arrest-the-icu-resuscitation-project-study-protocol-for-a-randomized-controlled-trial
#13
Ron W Reeder, Alan Girling, Heather Wolfe, Richard Holubkov, Robert A Berg, Maryam Y Naim, Kathleen L Meert, Bradley Tilford, Joseph A Carcillo, Melinda Hamilton, Matthew Bochkoris, Mark Hall, Tensing Maa, Andrew R Yates, Anil Sapru, Robert Kelly, Myke Federman, J Michael Dean, Patrick S McQuillen, Deborah Franzon, Murray M Pollack, Ashley Siems, John Diddle, David L Wessel, Peter M Mourani, Carleen Zebuhr, Robert Bishop, Stuart Friess, Candice Burns, Shirley Viteri, David A Hehir, R Whitney Coleman, Tammara L Jenkins, Daniel A Notterman, Robert F Tamburro, Robert M Sutton
BACKGROUND: Quality of cardiopulmonary resuscitation (CPR) is associated with survival, but recommended guidelines are often not met, and less than half the children with an in-hospital arrest will survive to discharge. A single-center before-and-after study demonstrated that outcomes may be improved with a novel training program in which all pediatric intensive care unit staff are encouraged to participate in frequent CPR refresher training and regular, structured resuscitation debriefings focused on patient-centric physiology...
April 3, 2018: Trials
https://www.readbyqxmd.com/read/29605534/erratum-to-discovery-of-n-arylpyrroles-as-agonists-of-gpr120-for-the-treatment-of-type-ii-diabetes-bioorg-med-chem-lett-28-2018-841-846
#14
Michael P Winters, Zhihua Sui, Mark Wall, Yuanping Wang, Joseph Gunnet, James Leonard, Hong Hua, Wen Yan, Arthur Suckow, Austin Bell, Wilmelenne Clapper, Celia Jenkinson, Peter Haug, Tatiana Koudriakova, Norman Huebert, William V Murray
No abstract text is available yet for this article.
March 28, 2018: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/29593435/mode-of-delivery-is-not-associated-with-celiac-disease
#15
Stine Dydensborg Sander, Anne Vinkel Hansen, Ketil Størdal, Anne-Marie Nybo Andersen, Joseph A Murray, Steffen Husby
Purpose: The purpose of this study was to investigate the association between mode of delivery and the risk of celiac disease in two large population-based birth cohorts with different prevalence of diagnosed celiac disease. Patients and methods: This is an observational register-based cohort study using two independent population cohorts. We used data from administrative registers and health administrative registers from Denmark and Norway and linked the data at the individual level...
2018: Clinical Epidemiology
https://www.readbyqxmd.com/read/29592893/recurrent-stat3-jak2-fusions-in-indolent-t-cell-lymphoproliferative-disorder-of-the-gastrointestinal-tract
#16
Ayush Sharma, Naoki Oishi, Rebecca L Boddicker, Guangzhen Hu, Hailey K Benson, Rhett P Ketterling, Patricia T Greipp, Darlene L Knutson, Sara M Kloft-Nelson, Rong He, Bruce W Eckloff, Jin Jen, Asha A Nair, Jaime I Davila, Surendra Dasari, Konstantinos N Lazaridis, N Nora Bennani, Tsung-Teh Wu, Grzegorz S Nowakowski, Joseph A Murray, Andrew L Feldman
No abstract text is available yet for this article.
March 28, 2018: Blood
https://www.readbyqxmd.com/read/29590749/discovery-of-a-potent-4r-5s-4-fluoro-5-methylproline-sulfonamide-transient-receptor-potential-ankyrin-1-trpa1-antagonist-and-its-methylene-phosphate-prodrug-guided-by-molecular-modeling
#17
Huifen Chen, Matthew Volgraf, Steven Do, Aleksandr Kolesnikov, Daniel G Shore, Vishal A Verma, Elisia Villemure, Lan Wang, Yong Chen, Baihua Hu, Ai-Jun Lu, Guosheng Wu, Xiaofeng Xu, Po-Wai Yuen, Yamin Zhang, Shawn D Erickson, Martin Dahl, Christine Brotherton-Pleiss, Suzanne Tay, Justin Q Ly, Lesley J Murray, Jun Chen, Desiree Amm, Wienke Lange, David H Hackos, Rebecca M Reese, Shannon D Shields, Joseph P Lyssikatos, Brian S Safina, Anthony A Estrada
TRPA1 is a non-selective cation channel expressed in sensory neurons where it functions as an irritant sensor for a plethora of electrophilic compounds and is implicated in pain, itch, and respiratory disease. To study its function in various disease contexts, we sought to identify novel, potent and selective small molecule TRPA1 antagonists. Herein we describe the evolution of an N-isopropyl glycine sulfonamide lead (1) to a novel and potent (4R,5S)-4-fluoro-5-methylproline sulfonamide series of inhibitors...
March 29, 2018: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/29572616/tropheryma-whipplei-infection-whipple-disease-in-the-usa
#18
Isabel A Hujoel, David H Johnson, Benjamin Lebwohl, Daniel Leffler, Sonia Kupfer, Tsung-Teh Wu, Joseph A Murray, Alberto Rubio-Tapia
BACKGROUND: Whipple disease (WD) is an infection caused by the bacterium Tropheryma whipplei (TW). Few cases have been reported in the USA. AIMS: To report on the demographics, clinical manifestations, diagnostic findings, treatment, and outcomes of TW infection. METHODS: Cases of TW infection diagnosed from 1995 to 2010 were identified in three US referral centers and from 1995 to 2015 in one. Definite classic WD was defined by positive periodic acid-Schiff (PAS) staining and probable WD by specific positive TW polymerase chain reaction (PCR) of intestinal specimens...
March 23, 2018: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/29560382/clinicopathological-and-123-i-fp-cit-spect-correlations-in-patients-with-dementia
#19
Youngsin Jung, Lennon G Jordan, Val J Lowe, Kejal Kantarci, Joseph E Parisi, Dennis W Dickson, Melissa E Murray, Ross R Reichard, Tanis J Ferman, David T Jones, Jonathan Graff-Radford, Rodolfo Savica, Mary M Machulda, Julie A Fields, Laura A Allen, Daniel A Drubach, Erik K St Louis, Michael H Silber, Clifford R Jack, David S Knopman, Ronald C Petersen, Bradley F Boeve
The relationship between clinicopathologic diagnosis and123 I-FP-CIT SPECT in 18 patients with dementia (12 with Lewy body disease) from one center in the United States was assessed. The sensitivity and specificity of abnormal123 I-FP-CIT SPECT with reduced striatal uptake on visual inspection for predicting Lewy body disease were 91.7% and 83.3%, respectively. The mean calculated putamen to occipital ratio (mPOR) based on regions of interest was significantly reduced in Lewy body disease compared to non-Lewy body disease cases ( P = 0...
March 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29550590/celiac-disease
#20
Joseph A Murray, Mark R Frey, Maria Oliva-Hemker
No abstract text is available yet for this article.
March 15, 2018: Gastroenterology
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