58 research outputs found
Impact of genetic loci identified in genome-wide association studies on diabetic retinopathy in Chinese patients with type 2 diabetes
- Author
- Publication venue
- 'Association for Research in Vision and Ophthalmology (ARVO)'
- Publication date
- 01/01/2016
- Field of study
© 2016, Association for Research in Vision and Ophthalmology Inc. All rights reserved.PURPOSE. Diabetic retinopathy (DR) is a common microvascular complication of type 2 diabetes (T2DM). Genome-wide association studies (GWAS) had identified novel DRsusceptibility genetic variants in various populations. We examined the associations of these DR-associated single nucleotide polymorphisms (SNPs) with severe DR in a Chinese T2DM cohort. METHODS. Cross-sectional case-control studies on sight-threatening DR (STDR) and proliferative DR (PDR) were performed. We genotyped 38 SNPs showing top association signals with DR in previous GWAS in 567 STDR cases, including 309 with PDR and 1490 non-DR controls. Multiple logistic regression models with adjustment for conventional risk factors, including age, sex, duration of diabetes, and presence of hypertension, were employed. RESULTS. The strongest association was found at INSR rs2115386, an intronic SNP of INSR: Padjusted = 9.13 × 10-4 (odds ratio [OR],1.28; 95% confidence interval [95%CI], 1.11-1.48) for STDR, and Padjusted = 1.12 × 10-4 (OR [95%CI],1.44 [1.20-1.74]) for PDR. rs599019 located downstream of COLEC12 (Padjusted = 0.019; OR [95%CI],1.19 [1.03-1.38]) and rs4462262 located at an intergenic region between ZWINT and MRPS35P3 (Padjusted = 0.041; OR [95%CI],1.38[1.01-1.89]) also were significantly associated with STDR, but not with PDR alone. On the other hand, MYT1L-LOC729897 rs10199521 (Padjusted = 0.022; OR [95%CI],1.25 [1.03-1.51]) and API5 rs899036 (Padjusted = 0.049; OR [95%CI],1.36 [1.00-1.85]) showed significant independent associations only with PDR. Similar results were obtained when hemoglobin A1c also was included in the adjustment models. CONCLUSIONS. We demonstrated the significant and independent associations of several GWAS-identified SNPs with DR in Chinese T2DM patients with severe DR. The findings on INSR rs2115386 are supportive of the role of insulin resistance, or the compensatory hyperinsulinemia, in the pathogenesis of DR.Link_to_subscribed_fulltex
Incremental prognostic value of global longitudinal strain in patients with type 2 diabetes mellitus
- Author
- A Milwidsky
- AA Heijden van der
- AC Ng
- AM From
- American Diabetes Association
- AR Folsom
- Association AD
- Carmen Wing-Sze Chan
- CT Zhao
- DJ Holland
- H King
- Hung-Fat Tse
- Ju-Hua Liu
- K Thygesen
- Kai-Hang Yiu
- Karen Siu-Ling Lam
- LJ Boonman-de Winter
- M Enomoto
- Michele Yuen
- P Blomstrand
- PW Wilson
- Q Wang
- Q Wang
- R Fontes-Carvalho
- RJ Stevens
- RL Coleman
- RM Lang
- RM Lang
- S Dieren van
- T Kawata
- UK Prospective Diabetes Study (UKPDS) Group
- X Yang
- Y Chen
- Y Mochizuki
- Yan Chen
- Zhe Zhen
- ZY Fang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- Author
- A. Nazli Basak
- A. Nazli Basak
- Aaron D. Gitler
- Aaron D. Gitler
- Aaron G. Day-Williams
- Adriano Chio
- Adriano Chiò
- Ahmad Al Kheifat
- Alan E. Renton
- Albert C. Ludolph
- Alberto Garcia Redondo
- Alberto García-Redondo
- Alberto M. Rivera
- Aleksey Shatunov
- Aleksey Shatunov
- Alessandra Chesi
- Alessandro Arosio
- Alex LeNail
- Alexander LeNail
- Alexander Sherman
- Alexis Brice
- Alfredo Iacoangeli
- Alya R. Raphael
- Amelia Conte
- Ammar Al-Chalabi
- Ammar Al-Chalabi
- Andrea Calvo
- Andrea Calvo
- Andrea Malaspina
- Andrea Malaspina
- Andrea Swenson
- Andrew B. Singleton
- Andrew King
- Andrew S. Allen
- Angela L. Jones
- Angelo Pirisi
- Anna Ticca
- Anne Cooley
- Anneloor L.M.A. ten Asbroek
- Annelot Dekker
- Antonia Ratti
- Antonia Ratti
- Antonino Cannas
- Antonio Canosa
- Antonio Fasano
- Antonio Ilardi
- Antonio Milia
- Antonio Petrucci
- Aoife Kenna
- Athina Soragia Gkazi
- Aude Nicolas
- Avinash Abhyankar
- Avindra Nath
- Barbara Castellotti
- Barbara Poletti
- Bas Middelkoop
- Bas Middelkoop
- Braden E. Boone
- Bradley N. Smith
- Brendan J. Kenna
- Brian J. Krueger
- Brittany N. Lasseigne
- Bryan J. Traynor
- Carla Caredda
- Carla Pani
- Carlayne Jackson
- Carlo Ferrarese
- Caroline Vance
- Chris Shaw
- Christian Lunetta
- Christian Lunetta
- Christine Clayman
- Christopher B. Brady
- Christopher E. Shaw
- Cinzia Bertolin
- Cinzia Femiano
- Cinzia Gellera
- Cinzia Gellera
- Cinzia Tiloca
- Cinzia Tiloca
- Claire Troakes
- Claudia Caponnetto
- Claudia Caponnetto
- Claudia Colombrita
- Claudia Ricci
- Clive N. Svendsen
- Clive N. Svendsen
- Corey McMillan
- Cristiane de Araujo Martins Moreno
- Cristina Cereda
- Cristina Cereda
- Cristina Moglia
- Daniel J. MacGowan
- Daniel J.L. MacGowan
- Daniela Corongiu
- Daniela Loi
- David B. Goldstein
- David B. Goldstein
- David B. Goldstein
- David J. Stone
- David Lacomis
- David Walk
- Dena G. Hernandez
- Denis C. Bauer
- Dhruv Sareen
- Dhruv Sareen
- Diane McKenna-Yasek
- Diane McKenna-Yasek
- Edward B. Lee
- Efthimios Dardiotis
- Ekaterina Rogaeva
- Elizabeth T. Cirulli
- Emanuela Costantino
- Emilien Bernard
- Emily Baxi
- Emily Baxi
- Emmeline Lagrange
- Enzo Ortu
- Eran Hornstein
- Ericka Simpson
- Ericka Simpson
- Erik P. Pioro
- Erik Pioro
- Ernest Fraenkel
- Ernest Fraenkel
- Ernest Fraenkel
- Eva L. Feldman
- Evadnie Rampersaud
- Evadnie Rampersaud
- Fabio Giannini
- Fabiola De Marchi
- Fabrizio Pisano
- Fabrizio Salvi
- Fabrizio Salvi
- Faraz Faghri
- Federico Casale
- Federico Verde
- Federico Verde
- Francesca L. Conforti
- Francesca L. Conforti
- Francesca Trojsi
- Francesca Trojsi
- Francesco Landi
- Francesco Marrosu
- Francesco O. Logullo
- Francesco O. Logullo
- Franco Taroni
- Franco Taroni
- Frank Baas
- Frank Baas
- Freya Kamel
- Gabriele Mora
- Gabriele Mora
- Gabriele Siciliano
- Gabriella Restagno
- Gang Wu
- Gang Wu
- Garth A. Nicholson
- George Manousakis
- Giacomo P. Comi
- Giacomo P. Comi
- Giancarlo Logroscino
- Gianluca Floris
- Gianluigi Mancardi
- Gianni Sorarù
- Gianni Sorarù
- Gijs Tazelaar
- Gioacchino Tedeschi
- Giorgia Querin
- Giovanni Piccirillo
- Giuseppe Borghero
- Giuseppe Borghero
- Giuseppe Fuda
- Giuseppe Lauria
- Giuseppe Lauria
- Giuseppe Lauria Pinter
- Giuseppe Marangi
- Giuseppe Marangi
- Giuseppe Marrali
- Glenn Gerhard
- Gregory A. Cox
- Gregory M. Cooper
- Guy A. Rouleau
- Guy A. Rouleau
- Gwendal Lemasson
- Gérard Besson
- Hannah A. Pliner
- Hannu Laaksovirta
- Hemali Phatnani
- Hemali Phatnani
- Hisham Hamdalla
- Ian P. Blair
- Ian P. Blair
- Ilaria Bartolomei
- Irene Ossola
- Isabella Fogh
- Isabella Fogh
- Isabella L. Simone
- Isabella Simone
- Isabelle Le Ber
- J. Paul Taylor
- J. Paul Taylor
- J. Raphael Gibbs
- Jack R. Wimbish
- Jacob McCauley
- Jacqueline de Belleroche
- James Broach
- James Caress
- James D. Berry
- James D. Berry
- James D. Berry
- James R. Broach
- Jan H. Veldink
- Jan Veldink
- Janel O. Johnson
- Janice A. Dominov
- Janine Kirby
- Jaya Trivedi
- Jeannine Heckmann
- Jeffrey D. Rothstein
- Jeffrey D. Rothstein
- Jeffrey Statland
- Jennifer A. Fifita
- Jennifer E. Van Eyk
- Jenny Van Eyk
- Jessica Mandrioli
- Jessica Mandrioli
- Jesus Mora Pardina
- Jesús Esteban-Pérez
- Jesús S. Mora
- Jinghui Zhang
- Jinhui Ding
- Joanne Wuu
- Joanne Wuu
- Jochen H. Weishaupt
- John D. Eicher
- John E. Landers
- John Ealing
- John F. Staropoli
- John Hardy
- John Landers
- John M. Ravits
- John M. Ravits
- John P. Carulli
- John Q. Trojanowski
- John Ravits
- Johnathan Cooper-Knock
- Joke J.F.A. van Vugt
- Joke van Vugt
- Jonathan Cooper-Knock
- Jonathan D. Glass
- Jonathan D. Glass
- Jonathan D. Glass
- Jonathan Glass
- Jonathan Katz
- Jonathan Keebler
- Jonathan Mill
- Joshua Dubnau
- Joshua T. Geiger
- José Luis Muñoz-Blanco
- Juan C. Troncoso
- Julia Kaye
- Julia Kaye
- Julien Couthouis
- Justin Kwan
- Kalliopi Marinou
- Karen E. Morrison
- Karen Morrison
- Katherine B. Sims
- Katie C. Sidle
- Kelly Gwathmey
- Kelly L. Williams
- Kelly L. Williams
- Kevin B. Boylan
- Kevin Kenna
- Kevin Mouzat
- Kevin Mouzat
- Kevin P. Kenna
- Kevin Talbot
- Kristel R. Van Eijk
- Kristel van Eijk
- Lauren Elman
- Leandro Lima
- Leandro Lima
- Leo Wang
- Leonard H. van den Berg
- Leonard van den Berg
- Leslie D. Parish
- Leslie M. Thompson
- Leslie M. Thompson
- Leslie M. Thompson
- Letizia Mazzini
- Letizia Mazzini
- Liberty Jenkins
- Liisa Myllykangas
- Lilja Jansson
- Lindsay L. Waite
- Lorena Mosca
- Lorne Zinman
- Luca Maderna
- Lucia Corrado
- Lucia Corrado
- Lucie Bruijn
- Lucio Tremolizzo
- Ludo Van Den Bosch
- Luigi Ferrucci
- Lyle W. Ostrow
- Lyle W. Ostrow
- Maarten Kooyman
- Maarten Kooyman
- Mamede de Carvalho
- Mamede de Carvalho
- Marc Gotkine
- Marcella Zollino
- Marco Barberis
- Marco Luigetti
- Margherita Capasso
- Margherita Capasso
- Maria Giovanna Marrosu
- Maria Rita Murru
- Maria Rosaria Monsurrò
- Marialuisa Santarelli
- Marielle Wallace
- Mario Sabatelli
- Mario Sabatelli
- Marka Van Blitterswijk
- Markus Weber
- Markus Weber
- Martin R. Turner
- Mary Kay Floeter
- Massimiliano Filosto
- Massimo Corbo
- Matthew B. Harms
- Matthew B. Harms
- Matthew B. Harms
- Matthew Kiernan
- Matthieu Moisse
- Mattieu Moisse
- Maura Brunetti
- Maura Pugliatti
- Maurizio Grassano
- Maurizio Inghilleri
- Maurizio Melis
- Mauro Ceroni
- Mayana Zatz
- Meraida Polak
- Merit Cudkowicz
- Merit Cudkowicz
- Michael A. Van Es
- Michael Benatar
- Michael Benatar
- Michael C. Zody
- Michael van Es
- Michele Benigni
- Michelle Penny
- Miguel Mitne Neto
- Mike A. Nalls
- Miko Valori
- Molly G. Hammell
- Natalie A. Murphy
- Natalie A. Twine
- Nathalie Guy
- Neil A. Shneider
- Neil A. Shneider
- Neil A. Shneider
- Neil W. Kowall
- Nicholas J. Maragakis
- Nicholas J. Maragakis
- Nicola Fini
- Nicola Ticozzi
- Nicola Ticozzi
- Nicola Ticozzi
- Nikolaos A. Patsopoulos
- Nilo Riva
- Nilo Riva
- Noah Zaitlen
- null Shankaracharya
- Orla Hardiman
- Orla Hardiman
- Pamela J. Shaw
- Pamela Keagle
- Pamela Shaw
- Paola Carrera
- Paola Mandich
- Paola Origone
- Paolo Volanti
- Paolo Volanti
- Patrick A. Dion
- Patrick Vourch
- Patrizia Occhineri
- Pentti Tienari
- Peter Andersen
- Peter C. Sapp
- Peter C. Sapp
- Peter M. Andersen
- Philip Van Damme
- Philip van Damme
- Philippe Corcia
- Philippe Corcia
- Philippe Corcia
- Philippe Couratier
- Philippe Couratier
- Pierre Clavelou
- Pietro Fratta
- Pietro Fratta
- Quanli Wang
- Raffaella Tanel
- Rajeeva Lochan Musunuri
- Rebecca Schule
- Riccardo Sideri
- Richard Barohn
- Richard Bedlack
- Richard M. Myers
- Richard M. Myers
- Richard S. Bedlack
- Richard W. Orrell
- Rick A. Van der Spek
- Rick van der Spek
- Robert Bowser
- Robert Brown
- Robert H. Baloh
- Robert H. Baloh
- Robert H. Baloh
- Robert H. Baloh
- Robert H. Brown
- Roberta Puddu
- Roberto Del Bo
- Roger Pamphlett
- Rosa Rademakers
- Rosa Rademakers
- Rossella Spataro
- Roy H. Campbell
- Russell L. McLaughlin
- Russell McLaughlin
- Ruth Chia
- Safa Al-Sarraj
- Sampath Arepalli
- Samuel Maiser
- Sandra D’Alfonso
- Sandra D’Alfonso
- Sara Pulit
- Sara Rollinson
- Sebastian D. Hayes
- Sebastiano Cavallaro
- Seneshaw Asress
- Serena Lattante
- Serge Lumbroso
- Serge Lumbroso
- Shaida Khan
- Shawn E. Levy
- Siddharthan Chandran
- Siddharthan Chandran
- Silvana Penco
- Silvia Peverelli
- Simon D. Topp
- Sitharthan Kamalakaran
- Slavé Petrovski
- Sonia Messina
- Sonja W. Scholz
- Stacia K. Wyman
- Stacia Wyman
- Stanley Appel
- Stanley H. Appel
- Stefan M. Pulst
- Stefan M. Pulst
- Stefania Battistini
- Stefania Battistini
- Stefania Cammarosano
- Stefania Corti
- Stefania Cuccu
- Stefania Tranquilli
- Stefania Tranquilli
- Stella Gagliardi
- Stephan Züchner
- Stephen A. Goutman
- Stephen Goutman
- Stephen J. Kolb
- Stephen J. Kolb
- Stephen Newhouse
- Steve Finkbeiner
- Steven Finkbeiner
- Steven Finkbeiner
- Stuart Pickering-Brown
- Sumaira Hussain
- Summer B. Gibson
- Summer Gibson
- Summer Gibson
- Susana Pinto
- Suvankar Pal
- Suvankar Pal
- Tea B. Cau
- Ted Burns
- Terry D. Heiman-Patterson
- Terry Heiman-Patterson
- Thomas Meitinger
- Tim Harris
- Tim Harris
- Tim M. Strom
- Timothy M. Miller
- Timothy M. Miller
- Timothy M. Miller
- Timothy M. Miller
- Timothy M. Miller
- Tiziana Colletti
- Tom Maniatis
- Travis L. Dunckley
- Uday Shankar Evani
- Umberto Manera
- Valeria Piras
- Vincent Meininger
- Vincenzo La Bella
- Vincenzo La Bella
- Vincenzo Silani
- Vincenzo Silani
- Vincenzo Silani
- Vivian Drory
- Vivian E. Drory
- Viviana Pensato
- Vivianna M. Van Deerlin
- Vivianna M. Van Deerlin
- Véronique Danel
- Wendy K. Chung
- William Camu
- William Camu
- William Sproviero
- Wim Robberecht
- Wim Robberecht
- Winnie W. Xin
- Winston Hide
- Wouter van Rheenen
- Wouter van Rheenen
- Ximena Arcila-Londono
- Yevgeniya Abramzon
- Yi-Fan Lu
- Yuen So
- Yujun Han
- Zachary Simmons
- Zachary Simmons
- Zachary Simmons
- Zhong Ren
- Publication venue
- Publication date
- 01/01/2018
- Field of study
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). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe
Altered myocardial response in patients with diabetic retinopathy: an exercise echocardiography study
- Author
- A Adameova
- A Ganau
- AB Olokoba
- AS Levey
- CL Jellis
- CT Zhao
- D Aguilar
- David Sai-Hung Wong
- E Donal
- G Pugliese
- Hung-Fat Tse
- JK Kahn
- Ju-Hua Liu
- JW Ha
- JW Ha
- Kai-Hang Yiu
- Karen Siu-Ling Lam
- Kendrick Shih
- M Galderisi
- M Snoer
- Michele Yuen
- MK Rutter
- N Cheung
- N Cheung
- N Mukai
- P Poirier
- P Raum
- RA Bruce
- RB Devereux
- RE Gilbert
- RM Lang
- S Jyothi
- SA Kim
- SF Nagueh
- SM Park
- V Delgado
- Y Chen
- Y Chen
- Yan Chen
- Zhe Zhen
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Hepatitis B virus genotypes and mutations in the basal core promoter and pre-core/core in chronically infected patients in southern Brazil: a cross-sectional study of HBV genotypes and mutations in chronic carriers
- Author
- Aline Satie Oba Kuniyoshi
- André Fanhani Lopes
- Becker CE
- Bertolini DA
- Buckwold VE
- Carrilho FJ
- Chan HL
- Chandra PK
- Chomczynski P
- Cooksley WG
- Da Silva LC
- Dennis Armando Bertolini
- Elkady A
- Fallows DA
- Fernandes JV
- Flávia Miryan Martins Almeida de Mello
- Gomaa AI
- Gomes-Gouvea MS
- Guarnieri M
- Gunther S
- Hall T
- Hayashi K
- Hou J
- Huy TT
- Kaneko S
- Kao JH
- Kao JH
- Kidd-Ljunggren K
- Kramvis A
- Kramvis A
- Kreutz C
- Lazier HG
- Lim CK
- Lin CL
- Lindh M
- Lindh M
- Liu WC
- Lok AS
- Maddalena C
- Mello FC
- Michele Soares Gomes-Gouvêa
- Norder H
- Norder H
- Norder H
- Odemuyiwa SO
- Okamoto H
- Olinger CM
- Orito E
- Sanger F
- SAS II
- Schaefer S
- Schaefer S
- Schaefer S
- Shinkai N
- Sitnik R
- Stuyver L
- Sugauchi F
- Swenson PD
- Takahashi K
- Tamura K
- Tanaka J
- Tanaka Y
- Tanaka Y
- Tatematsu K
- Thompson JD
- Vieth S
- Wang Z
- Westland C
- Yang HI
- Yu H
- Yuan J
- Yuen MF
- Yuen MF
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Genetic Differences in the Immediate Transcriptome Response to Stress Predict Risk-Related Brain Function and Psychiatric Disorders
- Author
- Ahmad R. Hariri
- Alan McLean
- Alexander Teumer
- Alexander Viktorin
- Andre Altmann
- Andrea Schulz
- Andreas Menke
- Andreas Ruepp
- Andrew McIntosh
- Andrew C. Heath
- Angelika Erhardt
- Ania Korszun
- Anjali K. Henders
- Anne E. Farmer
- Barbosa-Morais
- Benjamin Neale
- Bertram Müller-Myhsok
- Bertram Müller-Myhsok
- Brenda P. Penninx
- Britton
- Caitlin E. Carey
- Cathryn M. Lewis
- Christel M. Middeldorp
- Dale R. Nyholt
- Danyu Lin
- Dan V. Iosifescu
- Darina Czamara
- Darina Czamara
- de Kloet
- Devlin
- Dietrich Trümbach
- Divya Mehta
- Dohrenwend
- Donald MacIntyre
- Dorret I. Boomsma
- Douglas F. Levinson
- Douglas H.R. Blackwood
- Eco J. De Geus
- Edwin J.C.G. van den Oord
- Elisabeth B. Binder
- Elisabeth B. Binder
- Emily Drabant Conley
- Enda M. Byrne
- Engilbert Sigurdsson
- Evangelou
- Federica Tozzi
- Florian Holsboer
- Frans G. Zitman
- Franziska Degenhardt
- Gamazon
- Georgia Balsevich
- Gerard Van Grootheest
- Gerome Breen
- Glyn Lewis
- Goar Frishman
- Gonneke Willemsen
- Grant M. Montgomery
- Hagège
- Hakim
- Hans J. Grabe
- Haroon
- Heim
- Henckens
- Hennings
- Henry Völzke
- Howie
- Hreinn Stefansson
- Högni Oskarsson
- Ian Jones
- Ian B. Hickie
- Ian W. Craig
- Isaac S. Kohane
- James A. Knowles
- James B. Potash
- Janine Arloth
- Jankord
- Jeffrey B. Weilburg
- Jens Treutlein
- Jianxin Shi
- Johannes H. Smit
- John
- Jordan W. Smoller
- Josef Frank
- Jouke Jan Hottenga
- Kari Stefansson
- Katherine E. Tansey
- Keller
- Kendler
- Kendler
- Kendler
- Kessler
- Klaus V. Wagner
- Kundaje
- Lechner
- Lee
- Lefkos Middleton
- Lisa Jones
- Magdalena Gross
- Manfred Uhr
- Manfred Uhr
- Manuel Mattheisen
- Marcella Rietschel
- Marcus Ising
- Mark Daly
- Markus M. Noethen
- Martin Preisig
- Martin A. Kohli
- Mathias V. Schmidt
- Matthias Nauck
- Maurizio Fava
- McKay
- Menke
- Michael O’Donovan
- Michael Steffens
- Michael R. Barnes
- Michel Guipponi
- Michele L. Pergadia
- Mikael Landen
- Miller
- Montojo
- Myrna M. Weissman
- Nancy Pedersen
- Naomi R. Wray
- Nazanin Karbalai
- Nicholas G. Martin
- Nick Craddock
- Nicolae
- Oliveira
- Pamela A.F. Madden
- Patience J. Gallagher
- Patrick F. Sullivan
- Patrick J. McGrath
- Patrik Magnusson
- Paul Lichtenstein
- Peter McGuffin
- Peter Weber
- Phillips
- Phuc Le
- Pierandrea Muglia
- Purcell
- René Breuer
- Ripke
- Roussos
- Roy H. Perlis
- Rudolf Uher
- Ryan Bogdan
- Scott D. Gordon
- Sergey Goryachev
- Shawn N. Murphy
- So
- Stacy Steinberg
- Stanley I. Shyn
- Stefan Herms
- Stephan Ripke
- Steven P. Hamilton
- Susanne Hoefels
- Susanne Lucae
- Susanne E. Churchill
- Susan L. Slager
- Sven Cichon
- Tai
- Thomas Bettecken
- Thomas G. Schulze
- Thorgeir Thorgeirsson
- Torsten Klengel
- Tzeng Jung-Ying
- Ulrich-Lai
- Ustün
- van Rossum
- Victor M. Castro
- Vivian S. Gainer
- Wagner
- Ward
- Warden
- Westfall
- Westra
- Wilkinson
- Willem A. Nolen
- William A. Scheftner
- William B. Lawson
- William H. Coryell
- Witte Hoogendijk
- Wolfgang Maier
- Wolfgang Wurst
- Yuen
- Zoltan Kutalik
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2015
- Field of study
Depression risk is exacerbated by genetic factors and stress exposure; however, the biological mechanisms through which these factors interact to confer depression risk are poorly understood. One putative biological mechanism implicates variability in the ability of cortisol, released in response to stress, to trigger a cascade of adaptive genomic and non-genomic processes through glucocorticoid receptor (GR) activation. Here, we demonstrate that common genetic variants in long-range enhancer elements modulate the immediate transcriptional response to GR activation in human blood cells. These functional genetic variants increase risk for depression and co-heritable psychiatric disorders. Moreover, these risk variants are associated with inappropriate amygdala reactivity, a transdiagnostic psychiatric endophenotype and an important stress hormone response trigger. Network modeling and animal experiments suggest that these genetic differences in GR-induced transcriptional activation may mediate the risk for depression and other psychiatric disorders by altering a network of functionally related stress-sensitive genes in blood and brain
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
- Author
- A Gordon Robertson
- Abdullah Kahraman
- Abel Gonzalez-Perez
- Adam A Margolin
- Adam Abeshouse
- Adam Grundhoff
- Adam J Struck
- Adam J Struck
- Adam J Wright
- Adam Lambert
- Adam P Butler
- Adam P Butler
- Adel El-Naggar
- Adnan M Nagrial
- Adrian Ally
- Adrian Baez-Ortega
- Adrian Thorogood
- Adriana Salcedo
- Adrienne M Flanagan
- Ake Borg
- Akihiro Fujimoto
- Akihiro Suzuki
- Akinyemi I Ojesina
- Alain Viari
- Alan J Robertson
- Alan P Hoyle
- Alan Thompson
- Alasdair Stenhouse
- Alastair M Thompson
- Aldo Scarpa
- Alessandro Pastore
- Alex Buchanan
- Alex Buchanan
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- Stephan Ossowski
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- W Kimryn Rathmell
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- Xiao Xiao
- Xiaobo Li
- Xiaoping Su
- Xiaotong Li
- Xiaotong Yao
- Xing Hua
- Xingmin Liu
- Xinyue Li
- Xiuqing Zhang
- Xiuqing Zheng
- Xose S Puente
- Xuan Le
- Xuanping Zhang
- Xuemei Luo
- Xueqing Zou
- Yan Shi
- Yan Zhang
- Yang Wu
- Yang Yang
- Yann Joly
- Yanxun Xu
- Yao He
- Yasin Senbabaoglu
- Yassen Assenov
- Yasser Riazalhosseini
- Yasuhito Arai
- Yasushi Rino
- Yasushi Totoki
- Yeng Ang
- Yi Huang
- Yi Huang
- Yifei Men
- Yiling Lu
- Yilong Li
- Yingyan Yu
- Yiwen Chen
- Yogesh Kumar
- Yogesh Kumar
- Yoke-Eng Chiew
- Yong Hou
- Yong Zhou
- Yong-Jie Lu
- Yongzhan Nie
- Yosef E Maruvka
- Yosef E Maruvka
- Yoshiiku Kawakami
- Young Seok Ju
- Youngchoon Woo
- Youngil Koh
- Youngwook Kim
- Youyong Lu
- Yu Fan
- Yu Fan
- Yu Fan
- Yu-Jia Shiah
- Yuan Ji
- Yuan Yuan
- Yuichi Shiraishi
- Yulia Newton
- Yulia Rubanova
- Yumeng Wang
- Yupeng Cun
- Yussanne Ma
- Zachary Heins
- Zechen Chong
- Zechen Chong
- Zemin Zhang
- Zhaohong Chen
- Zhenggang Wu
- Zhenggang Wu
- Zhining Wang
- Zhongming Zhao
- Ziao Lin
- Zsofia Kote-Jarai
- Ólafur Andri Stefánsson
- Øystein Garred
- Publication venue
- Nature Communications
- Publication date
- 01/01/2020
- Field of study
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
Global, regional, and national burden of disorders affecting the nervous system, 1990–2021: a systematic analysis for the Global Burden of Disease Study 2021
- Author
- Abate Yohannes Habtegiorgis
- Abbas Jaffar
- Abbasi Madineh Akram
- Abbasian Mohammadreza
- Abbastabar Hedayat
- Abd-Rabu Rami
- Abdelmasseh Michael
- Abdollahi Mohammad
- Abdollahi Mozhan
- Abdollahifar Mohammad-Amin
- Abdulah Deldar Morad
- Abdullahi Auwal
- Abedi Aidin
- Abedi Vida
- Abeldaño Zuñiga Roberto Ariel
- Abidi Hassan
- Abiodun Olumide
- Aboagye Richard Gyan
- Abolhassani Hassan
- Aboyans Victor
- Abrha Woldu Aberhe
- Abu-Gharbieh Eman
- Abualhasan Ahmed
- Aburuz Salahdein
- Adamu Lawan Hassan
- Addo Isaac Yeboah
- Adebayo Oladimeji M
- Adekanmbi Victor
- Adekiya Tayo Alex
- Adikusuma Wirawan
- Adnani Qorinah Estiningtyas Sakilah
- Adra Saryia
- Afework Tsion
- Afolabi Aanuoluwapo Adeyimika
- Afraz Ali
- Afzal Saira
- Aghamiri Shahin
- Agodi Antonella
- Agyemang-Duah Williams
- Ahinkorah Bright Opoku
- Ahmad Aqeel
- Ahmad Danish
- Ahmad Sajjad
- Ahmadzade Amir Mahmoud
- Ahmed Ali
- Ahmed Ayman
- Ahmed Haroon
- Ahmed Jivan Qasim
- Ahmed Luai A
- Ahmed Muktar Beshir
- Ahmed Syed Anees
- Ajami Marjan
- Aji Budi
- Ajumobi Olufemi
- Akade Seyed Esma'il
- Akbari Morteza
- Akbarialiabad Hossein
- Akhlaghi Shiva
- Akinosoglou Karolina
- Akinyemi Rufus Olusola
- Akonde Maxwell
- Al Hasan Syed Mahfuz
- AL-Ahdal Tareq Mohammed Ali
- Al-amer Rasmieh Mustafa
- Al-Gheethi Adel Ali Saeed
- Al-Omari Basem
- Al-Shahi Salman Rustam
- Al-Tawfiq Jaffar A
- Al-Worafi Yaser Mohammed
- Alahdab Fares
- Albashtawy Mohammed
- AlBataineh Mohammad T
- Aldawsari Khalifah A
- Alemi Hediyeh
- Alemi Sharifullah
- Algammal Abdelazeem M
- Alhalaiqa Fadwa Alhalaiqa Naji
- Alhassan Robert Kaba
- Ali Abid
- Ali Endale Alemayehu
- Ali Liaqat
- Ali Mohammed Usman
- Ali Musa Mohammed
- Ali Rafat
- Ali Shahid
- Ali Syed Shujait Shujait
- Ali Zahid
- Alif Sheikh Mohammad
- Alimohamadi Yousef
- Aliyi Ahmednur Adem
- Aljofan Mohamad
- Aljunid Syed Mohamed
- Alladi Suvarna
- Almazan Joseph Uy
- Almustanyir Sami
- Alqahtani Jaber S
- Alqasmi Ibrahim
- Alqutaibi Ahmed Yaseen
- Altaany Zaid
- Altirkawi Khalid A
- Alvis-Guzman Nelson
- Aly Hany
- Aly Safwat
- Alzoubi Karem H
- Amani Reza
- Amindarolzarbi Alireza
- Amiri Sohrab
- Amirzade-Iranaq Mohammad Hosein
- Amu Hubert
- Amugsi Dickson A
- Amusa Ganiyu Adeniyi
- Amzat Jimoh
- Ancuceanu Robert
- Anderlini Deanna
- Anderson David B
- Andrei Catalina Liliana
- Androudi Sofia
- Angappan Dhanalakshmi
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- Anil Abhishek
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- Asadi-Pooya Ali A
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- Asghari-Jafarabadi Mohammad
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- Atinafu Bantalem Tilaye Tilaye
- Atorkey Prince
- Atout Maha Moh'd Wahbi
- Atreya Alok
- Aujayeb Avinash
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- Ayala Quintanilla Beatriz Paulina
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- Balalla Shivanthi
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- Banach Maciej
- Bandyopadhyay Soham
- Banerjee Indrajit
- Baran Mehmet Firat
- Barboza Miguel A
- Barchitta Martina
- Bardhan Mainak
- Barker-Collo Suzanne Lyn
- Barrow Amadou
- Bashash Davood
- Bashiri Hamideh
- Bashiru Hameed Akande
- Basiru Afisu
- Basso João Diogo
- Basu Sanjay
- Batiha Abdul-Monim Mohammad
- Batra Kavita
- Baune Bernhard T
- Bedi Neeraj
- Begde Ahmet
- Begum Tahmina
- Behnam Babak
- Behnoush Amir Hossein
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- Belgaumi Uzma Iqbal
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- Bennett Derrick A
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- Bhat Vivek
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- Bhatti Jasvinder Singh
- Bhatti Rajbir
- Bijani Ali
- Bikbov Boris
- Bilalaga Mariah Malak
- Biswas Atanu
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- Bitra Veera R
- Bjørge Tone
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- Boloor Archith
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- Briko Andrey
- Bringas Vega Maria L
- Brown Julie
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- Burns Richard A
- Bustanji Yasser
- Butt Muhammad Hammad
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- Béjot Yannick
- Cabral Lucas Scotta
- Caetano dos Santos Florentino Luciano
- Calina Daniela
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- Cao Bochen
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- Castañeda-Orjuela Carlos A
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- Catapano Alberico L
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- Chanie Gashaw Sisay
- Charan Jaykaran
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- Chitheer Abdulaal
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- Chowdhury Rajiv
- Christensen Hanne
- Chu Dinh-Toi
- Chukwu Isaac Sunday
- Chung Eric
- Coberly Kaleb
- Columbus Alyssa
- Comachio Josielli
- Conde Joao
- Cortesi Paolo Angelo
- Costa Vera Marisa
- Cousin Ewerton
- Couto Rosa A S
- Criqui Michael H
- Cruz-Martins Natália
- Cárdenas Rosario
- D'Amico Emanuele
- Dabbagh Ohadi Mohammad Amin
- Dadana Sriharsha
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- Dai Xiaochen
- Dai Zhaoli
- Danawi Hadi A
- Dandona Lalit
- Dandona Rakhi
- Darwish Amira Hamed
- Das Saswati
- Das Subasish
- Dascalu Ana Maria
- Dash Nihar Ranjan
- Dashti Mohsen
- De la Hoz Fernando Pio
- de la Torre-Luque Alejandro
- De Leo Diego
- Dean Frances E
- Dehghan Amin
- Dehghan Azizallah
- Dejene Hiwot
- Demant Daniel
- Demetriades Andreas K
- Demissie Solomon
- Deng Xinlei
- Desai Hardik Dineshbhai
- Devanbu Vinoth Gnana Chellaiyan
- Dhama Kuldeep
- Dharmaratne Samath Dhamminda
- Dhimal Meghnath
- Dias da Silva Diana
- Diaz Daniel
- Dibas Mahmoud
- Ding Delaney D
- Dinu Monica
- Dirac M Ashworth
- Diress Mengistie
- Do Thanh Chi
- Do Thao Huynh Phuong
- Doan Khanh Duy Khanh
- Dodangeh Milad
- Doheim Mohamed Fahmy
- Dokova Klara Georgieva
- Dongarwar Deepa
- Dsouza Haneil Larson
- Dua Tarun
- Dube John
- Duraisamy Senbagam
- Durojaiye Oyewole Christopher
- Dutta Sulagna
- Dziedzic Arkadiusz Marian
- Edinur Hisham Atan
- Eissazade Negin
- Ekholuenetale Michael
- Ekundayo Temitope Cyrus
- El Nahas Nevine
- El Sayed Iman
- Elahi Najafi Mohammad Amin
- Elbarazi Iffat
- Elemam Noha Mousaad
- Elgar Frank J
- Elgendy Islam Y
- Elhabashy Hala Rashad
- Elhadi Muhammed
- Elilo Legesse Tesfaye
- Ellenbogen Richard G
- Elmeligy Omar Abdelsadek Abdou
- Elmonem Mohamed A
- Elshaer Mohammed
- Elsohaby Ibrahim
- Emamverdi Mehdi
- Emeto Theophilus I
- Endres Matthias
- Esezobor Christopher Imokhuede
- Eskandarieh Sharareh
- Fadaei Abdolmajid
- Fagbamigbe Adeniyi Francis
- Fahim Ayesha
- Faramarzi Ali
- Fares Jawad
- Farjoud Kouhanjani Mohsen
- Faro Andre
- Farzadfar Farshad
- Fatehizadeh Ali
- Fathi Mobina
- Fathi Saeid
- Fatima Syeda Anum Fatima
- Feigin Valery L
- Feizkhah Alireza
- Fereshtehnejad Seyed-Mohammad
- Ferrari Alize J
- Ferreira Nuno
- Fetensa Getahun
- Firouraghi Neda
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- Fonseca Ana Catarina
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- Fornari Arianna
- Foroutan Behzad
- Fukumoto Takeshi
- Gadanya Muktar A
- Gaidhane Abhay Motiramji
- Galali Yaseen
- Galehdar Nasrin
- Gan Quan
- Gandhi Aravind P
- Ganesan Balasankar
- Gardner William M
- Garg Naval
- Gau Shuo-Yan
- Gautam Rupesh K
- Gebre Teshome
- Gebrehiwot Mesfin
- Gebremeskel Gebreamlak Gebremedhn
- Gebreslassie Haftay Gebremedhin
- Getacher Lemma
- Ghaderi Yazdi Bardiya
- Ghadirian Fataneh
- Ghaffarpasand Fariborz
- Ghanbari Reza
- Ghasemi MohammadReza
- Ghazy Ramy Mohamed
- Ghimire Sailaja
- Gholami Ali
- Gholamrezanezhad Ali
- Ghotbi Elena
- Ghozy Sherief
- Gialluisi Alessandro
- Gill Paramjit Singh
- Glasstetter Logan M
- Gnedovskaya Elena V
- Golchin Ali
- Golechha Mahaveer
- Goleij Pouya
- Golinelli Davide
- Gomes-Neto Mansueto
- Goulart Alessandra C
- Goyal Anmol
- Gray Richard J
- Grivna Michal
- Guadie Habtamu Alganeh
- Guan Bin
- Guarducci Giovanni
- Guicciardi Stefano
- Gunawardane Damitha Asanga
- Guo Hanbing
- Gupta Bhawna
- Gupta Rajeev
- Gupta Sapna
- Gupta Veer Bala
- Gupta Vivek Kumar
- Gutiérrez Reyna Alma
- Habibzadeh Farrokh
- Hachinski Vladimir
- Haddadi Rasool
- Hadei Mostafa
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- Haep Nils
- Hagins Hailey
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- Haj-Mirzaian Arvin
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- Hameed Sajid
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- Han Hannah
- Hanifi Nasrin
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- Hannan Md. Abdul
- Hao Junwei
- Harapan Harapan
- Hareru Habtamu Endashaw
- Hargono Arief
- Harlianto Netanja I.
- Haro Josep Maria
- Hartman Nicholas Nathaniel
- Hasaballah Ahmed I.
- Hasan Faizul
- Hasani Hamidreza
- Hasanian Mohammad
- Hassan Amr
- Hassan Shoaib
- Hassanipour Soheil
- Hassankhani Hadi
- Hassen Mohammed Bheser
- Haubold Johannes
- Hay Simon I
- Hayat Khezar
- Hegazy Mohamed I
- Heidari Golnaz
- Heidari Mohammad
- Heidari-Soureshjani Reza
- Hesami Hamed
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- Holla Ramesh
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- Horita Nobuyuki
- Hossain Md Mahbub
- Hossain Md. Belal
- Hossain Sahadat
- Hosseinzadeh Hassan
- Hosseinzadeh Mehdi
- Hostiuc Sorin
- Hu Chengxi
- Huang Junjie
- Huda Md. Nazmul
- Hussain Javid
- Hussein Nawfal R
- Huynh Hong-Han
- Hwang Bing-Fang
- Ibitoye Segun Emmanuel
- Ilaghi Mehran
- Ilesanmi Olayinka Stephen
- Ilic Irena M
- Ilic Milena D
- Immurana Mustapha
- Iravanpour Farideh
- Islam Sheikh Mohammed Shariful
- Ismail Faisal
- Iso Hiroyasu
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- Iwu Chidozie C D
- Iyer Mahalaxmi
- Jaan Ali
- Jacob Louis
- Jadidi-Niaragh Farhad
- Jafari Mahboobeh
- Jafarinia Morteza
- Jafarzadeh Abdollah
- Jahankhani Kasra
- Jahanmehr Nader
- Jahrami Haitham
- Jaiswal Abhishek
- Jakovljevic Mihajlo
- Jamora Roland Dominic G
- Jana Somnath
- Javadi Nilofer
- Javed Saad
- Javeed Saad
- Jayapal Sathish Kumar
- Jayaram Shubha
- Jiang Heng
- Johnson Catherine Owens
- Johnson Walter D
- Jokar Mohammad
- Jonas Jost B
- Joseph Abel
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- Jürisson Mikk
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- Kalantar Farnaz
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- Kamath Ashwin
- Kamath Sagarika
- Kanchan Tanuj
- Kandel Amit
- Kandel Himal
- Kanmodi Kehinde Kazeem
- Karajizadeh Mehrdad
- Karami Jafar
- Karanth Shama D
- Karaye Ibraheem M
- Karch André
- Karimi Behnagh Arman
- Karimi Aliasghar
- Karimi Hanie
- Kasraei Hengameh
- Kassebaum Nicholas J
- Kauppila Joonas H
- Kaur Harkiran
- Kaur Navjot
- Kayode Gbenga A
- Kazemi Foad
- Keikavoosi-Arani Leila
- Keller Cathleen
- Keykhaei Mohammad
- Khadembashiri Mohammad Amin
- Khader Yousef Saleh
- Khafaie Morteza Abdullatif
- Khajuria Himanshu
- Khalaji Amirmohammad
- Khamesipour Faham
- Khammarnia Mohammad
- Khan Suheb Mahammed Ziauddin
- Khan Maseer
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- Khan Yusra H
- Khanmohammadi Shaghayegh
- Khanna Tripti
- Khatab Khaled
- Khatatbeh Haitham
- Khatatbeh Moawiah Mohammad
- Khateri Sorour
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- Khonji Mohammad Saeid
- khorashadizadeh Fatemeh
- Khormali Moein
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- Odetokun Ismail A
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- Okwute Patrick Godwin
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- Oliveira Gláucia Maria Moraes
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- Omar Bali Ahmed
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- Ortega-Altamirano Doris V
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- Otstavnov Stanislav S
- Ouyahia Amel
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- Parthasarathi Ashwaghosha
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- Siankam Tankwanchi Akhenaten Benjamin
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- Truelsen Thomas Clement
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- Tsatsakis Aristidis
- Tsegay Guesh Mebrahtom
- Tsermpini Evangelia Eirini
- Tualeka Abdul Rohim
- Tufa Derara Girma
- Ubah Chukwudi S
- Udoakang Aniefiok John
- Ulhaq Inam
- Umair Muhammad
- Umakanthan Srikanth
- Umapathi Krishna Kishore
- Unim Brigid
- Unnikrishnan Bhaskaran
- Vaithinathan Asokan Govindaraj
- Vakilian Alireza
- Valadan Tahbaz Sahel
- Valizadeh Rohollah
- Van den Eynde Jef
- Vart Priya
- Varthya Shoban Babu
- Vasankari Tommi Juhani
- Vaziri Siavash
- Vellingiri Balachandar
- Venketasubramanian Narayanaswamy
- Verras Georgios-Ioannis
- Vervoort Dominique
- Villafañe Jorge Hugo
- Villani Leonardo
- Vinueza Veloz Andres Fernando
- Viskadourou Maria
- Vladimirov Sergey Konstantinovitch
- Vlassov Vasily
- Volovat Simona Ruxandra
- Vos Theo
- Vu Loc Tri
- Vujcic Isidora S
- Wagaye Birhanu
- Waheed Yasir
- Wahood Waseem
- Walde Mandaras Tariku
- Wang Fang
- Wang Shu
- Wang Yanzhong
- Wang Yuan-Pang
- Waqas Muhammad
- Waris Abdul
- Weerakoon Kosala Gayan
- Weintraub Robert G
- Weldemariam Abrha Hailay
- Westerman Ronny
- Whisnant Joanna L
- Wickramasinghe Dakshitha Praneeth
- Wickramasinghe Nuwan Darshana
- Willekens Barbara
- Wilner Lauren B
- Winkler Andrea Sylvia
- Wolfe Charles D A
- Wu Ai-Min
- Wulf Hanson Sarah
- Xu Suowen
- Xu Xiaoyue
- Yadollahpour Ali
- Yaghoubi Sajad
- Yahya Galal
- Yamagishi Kazumasa
- Yang Lin
- Yano Yuichiro
- Yao Yao
- Yehualashet Sisay Shewasinad
- Yeshaneh Alex
- Yesiltepe Metin
- Yi Siyan
- Yiğit Arzu
- Yiğit Vahit
- Yon Dong Keon
- Yonemoto Naohiro
- You Yuyi
- Younis Mustafa Z
- Yu Chuanhua
- Yusuf Hadiza
- Zadey Siddhesh
- Zahedi Mohammad
- Zakham Fathiah
- Zaki Nazar
- Zali Alireza
- Zamagni Giulia
- Zand Ramin
- Zandieh Ghazal G Z
- Zangiabadian Moein
- Zarghami Amin
- Zastrozhin Mikhail Sergeevich
- Zeariya Mohammed G M
- Zegeye Zelalem Banjaw
- Zeukeng Francis
- Zhai Chunxia
- Zhang Chen
- Zhang Haijun
- Zhang Yunquan
- Zhang Zhi-Jiang
- Zhao Hanqing
- Zhao Yang
- Zheng Peng
- Zhou Hengxing
- Zhu Bin
- Zhumagaliuly Abzal
- Zielińska Magdalena
- Zikarg Yossef Teshome
- Zoladl Mohammad
- Ärnlöv Johan
- Publication venue
- Elsevier
- Publication date
- 01/04/2024
- Field of study
BackgroundDisorders affecting the nervous system are diverse and include neurodevelopmental disorders, late-life neurodegeneration, and newly emergent conditions, such as cognitive impairment following COVID-19. Previous publications from the Global Burden of Disease, Injuries, and Risk Factor Study estimated the burden of 15 neurological conditions in 2015 and 2016, but these analyses did not include neurodevelopmental disorders, as defined by the International Classification of Diseases (ICD)-11, or a subset of cases of congenital, neonatal, and infectious conditions that cause neurological damage. Here, we estimate nervous system health loss caused by 37 unique conditions and their associated risk factors globally, regionally, and nationally from 1990 to 2021.MethodsWe estimated mortality, prevalence, years lived with disability (YLDs), years of life lost (YLLs), and disability-adjusted life-years (DALYs), with corresponding 95% uncertainty intervals (UIs), by age and sex in 204 countries and territories, from 1990 to 2021. We included morbidity and deaths due to neurological conditions, for which health loss is directly due to damage to the CNS or peripheral nervous system. We also isolated neurological health loss from conditions for which nervous system morbidity is a consequence, but not the primary feature, including a subset of congenital conditions (ie, chromosomal anomalies and congenital birth defects), neonatal conditions (ie, jaundice, preterm birth, and sepsis), infectious diseases (ie, COVID-19, cystic echinococcosis, malaria, syphilis, and Zika virus disease), and diabetic neuropathy. By conducting a sequela-level analysis of the health outcomes for these conditions, only cases where nervous system damage occurred were included, and YLDs were recalculated to isolate the non-fatal burden directly attributable to nervous system health loss. A comorbidity correction was used to calculate total prevalence of all conditions that affect the nervous system combined.FindingsGlobally, the 37 conditions affecting the nervous system were collectively ranked as the leading group cause of DALYs in 2021 (443 million, 95% UI 378–521), affecting 3·40 billion (3·20–3·62) individuals (43·1%, 40·5–45·9 of the global population); global DALY counts attributed to these conditions increased by 18·2% (8·7–26·7) between 1990 and 2021. Age-standardised rates of deaths per 100 000 people attributed to these conditions decreased from 1990 to 2021 by 33·6% (27·6–38·8), and age-standardised rates of DALYs attributed to these conditions decreased by 27·0% (21·5–32·4). Age-standardised prevalence was almost stable, with a change of 1·5% (0·7–2·4). The ten conditions with the highest age-standardised DALYs in 2021 were stroke, neonatal encephalopathy, migraine, Alzheimer's disease and other dementias, diabetic neuropathy, meningitis, epilepsy, neurological complications due to preterm birth, autism spectrum disorder, and nervous system cancer.InterpretationAs the leading cause of overall disease burden in the world, with increasing global DALY counts, effective prevention, treatment, and rehabilitation strategies for disorders affecting the nervous system are needed
Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries
- Author
- Abad-Motos Ane
- Abbas Ahmed M.
- Abbas Mostafa
- Abbasi Mujeeb
- Abbott Tom
- Abd Karim Muhammad Fairuz Shah
- Abdalaal Ibrahim
- Abdel-Galil Khalid
- Abdelemam Rania
- Abdelgawad Abdalrahman
- Abdelkarim Maryam
- Abdelkhalek Mohamed
- Abdelmageed Abdelfatah
- Abdelmawgoud Sherif
- Abdelmohsen Sarah
- Abdelrahman Ahmed Saber
- Abdelrahman Mostafa
- Abdelwahab Khaled
- Abdou Hossam
- Abdulai Darling Ramatu
- Abdulkhaleq Marwa
- Abdullah Bahiyah
- Abdulsalam Khalifa
- Abdulsalam Shuaib
- Abdur-Rahman Lukman
- Abdus-Salam Rukiyat
- Abdussalam Hameedat Opeyemi
- Abebrese John Tabiri
- Abeldaño Ariel
- Abou-Khalil Jad
- Abou-Taleb Hisham
- Abozid Anwaar
- Abozied Hesham
- Abrate Alberto
- Abu-Zaid Ahmed
- Abubakar Mohammed Kabir
- Abud Burçin
- Abuzaid Mohammed
- Adam Albushra Altayeb
- Adamina Michel
- Adamou Harissou
- Adamu Auwal
- Adamu Kabir Musa
- Adanu Kekeli
- Adebara Idowu
- Adebola Oluwaseyi
- Ademuyiwa Adesoji
- Adeniran Abiodun
- Adepiti Akinfolarin
- Aderogba Adeleke Akeem
- Adesunkanmi Abdulhafiz
- Adeyeye Ademola
- Adisa Adewale
- Adjeso Theophilus Justus Kofi
- Ads Adel Mohamed
- Ads Alaa Mohamed
- Adu-Aryee Nii Armah
- Adumah Collins
- Afzal Irrum
- Agapov Mikhail
- Agarwal Gaurav
- Agarwal Ravi
- Agbeko Anita Eseenam
- Agbeno Evans Kofi
- Agbonrofo Peter
- Agboola Oluseyi
- Aggarwal Gaurav
- Aghadi Ifeanyi
- Aghtarafi Natasha
- Agrawal Amit
- Agresta Ferdinando
- Aguado Héctor J.
- Aguilera-Arevalo Maria-Lorena
- Aherne Thomas
- Ahmad Aline
- Ahmad Maleeha
- Ahmad Misbahu
- Ahmad Sarwat
- Ahmad Shahzaib
- Ahmad Shoaib
- Ahmed Hayat Tarig Abdelhafiz
- Ahmed Khalid
- Ahmed Sharwany
- Ahmed Shima
- Ahmed Usama
- Aisuodionoe-Shadrach Oseremen
- Aitken Sarah
- Ajenifuja Kayode
- Ajiya Abdulrazak
- Akeel Nouf
- Akin Emrah
- Akinajo Opeyemi
- Akinyemi Tosin
- Akrida Ioanna
- Aktokmakyan Talar Vartanoglu
- Akwaisah Ayoub
- Al Bettar Osama
- Al-Badawi Ismail A.
- Al-Juaifari Maytham
- Al-Khyatt Waleed
- Al-Mallah Abdullah
- Al-Nusairi Ahmed
- Al-Saadi Nina
- Al-Sayaghi Khaled
- Al-Shaiji Tariq
- Al-Shehari Mohammed
- Al-Touny Aiman
- Al-Touny Shimaa A.
- Aladawi Omar
- Aladna Abdallah
- Alali Mahmoud
- Alam Mahmood
- Alam Mohammed Shadrul
- Alarabi Rehab
- Alawneh Yazan
- Alayande Barnabas
- Albanese Erminia
- Albayadi Eslam
- Albdour Maram
- Alconchel Felipe
- Alderazi Amer
- Alegbeleye Bamidele
- Alekberli Tural
- Alemu Misganaw Alemu Adimass
- Alexander Philip
- Alfieri Alex
- Algahtany Khaled
- Algarni Kamal
- Alhamad Ameen
- Alhamid Mohammad
- Alharmi Rawan A. Rahman
- Alharthi Mohammed
- Alhazmi Barrag
- Ali Mohamed Shafi Mahboob
- Ali Stephen
- Alibrahim Hidar
- Aljaaly Hattan
- Aljaiuossi Anas
- Aljanadi Firas
- Aljiffry Murad
- Aljirdabi Noof
- Alkahlan Mohammed
- Alkhalifa Elmustafa
- Alkhatib Sondos
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- Stoyanov Vladislav
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- Su Yu-Xiong
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- Subramani Yamini
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- Sundarraju Shalini
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- Vázquez Gil
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- Vǎcǎraşu Andrei Bogdan
- Wade Ryckie
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- Wallis Christopher
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- Wasim D.
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- Wolfenden John W. D.
- Wong Benjamin Ngie Xiong
- Wong Enoch
- Wong Evan G.
- Wong George Kwok Chu
- Wong Ho Ying Flora
- Wong Kai Yuen
- Wormald Justin
- Wright Deborah
- Wright Joshua
- Wu Fiona
- Wurm Markus
- Xenaki Sofia
- Yadev Ip
- Yahaya Ahmad Shuib
- Yakubu Mustapha
- Yang Wah
- Yanik Özge
- Yanowsky-Reyes Guillermo
- Yassin Abubaker
- Yates Elizabeth
- Yebes Alvaro
- Yenli Edwin Mwintiereh Ta-Ang
- Yeoh Tien
- Yeung Justin
- Yiallourou Anneza
- Yigit Banu
- Yildirim Asif
- Yim Guang
- Yiu Andrew
- Yonekura Hiroshi
- Yotsov Tsanko
- Younis Muhammad Umar
- Yunus Alif
- Yusefi Hossein
- Zabaleta Jon
- Zabkiewicz Catheriner
- Zaccaria Giulia
- Zacharia Bincy
- Zafar Syed Nabeel
- Zago Mauro
- Zaheen Zakia
- Zahid Zahra
- Zaimis Tilemachos
- Zakaria Andee Dzulkarnaen
- Zambon Martina
- Zamora Lindsey
- Zampogna Biagio
- Zancana Giuseppa
- Zani Augusto
- Zanin Luca
- Zanini Nicola
- Zapardiel Ignacio
- Zapata Carlos Shiraishi
- Zarif Pierre
- Zaránd Attila
- Zehnder Philipp
- Zenger Serkan
- Zenha Horácio
- Zhu Michael Z. L.
- Ziemann Sebastian
- Zimak Danijela Mrazovac
- Zimak Zoran
- Zivkovic Dragana
- Zizzo Maurizio
- Zucker Benjamin
- Zwain Yasir
- Zyskowski Michael
- Ávila Clara Castro
- Älgå Andreas
- Çakici Mehmet Çaǧlar
- Çelik Enes
- Çelik Meryem Nur
- Özçay Necdet
- Şevik Hüsnü
- Šantak Goran
- Šimko Kristián
- Žatecký Jan
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2023
- Field of study
Abstract
Background
Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres.
Methods
This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries.
Results
In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia.
Conclusion
This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries
Search for single production of vector-like quarks decaying into Wb in pp collisions at s=8 TeV with the ATLAS detector
- Author
- Abbott Brad
- Abdallah Jalal
- Abdinov Ovsat
- Abeloos Baptiste
- Aben Rosemarie
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- AbouZeid Ossama
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- Abreu Henso
- Abreu Ricardo
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- Acharya Bobby Sami
- Adamczyk Leszek
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- Adelman Jahred
- Adomeit Stefanie
- Adye Tim
- Affolder Tony
- Agatonovic-Jovin Tatjana
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- Amram Nir
- Amundsen Glenn
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- Anisenkov Alexey
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- Chiodini Gabriele
- Chisholm Andrew
- Chislett Rebecca Th
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- Chromek-Burckhart Doris
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- Chuinard Annabelle
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- Clark Allan G
- Clark Brian Lee
- Clark Philip Jam
- Clarke Robert
- Clement Christophe
- Coadou Yann
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- Cochran James H
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- Colasurdo Luca
- Cole Brian
- Cole Stephen
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- Coniavitis Elias
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- Cuhadar Donszelmann Tulay
- Cummings Jane
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- Wotschack Jorg
- Woudstra Martin
- Wozniak Krzysztof
- Wu Mengqing
- Wu Miles
- Wu Sau Lan
- Wu Xin
- Wu Yusheng
- Wyatt Terry Rich
- Wynne Benjamin
- Xella Stefania
- Xu Da
- Xu Lailin
- Yabsley Bruce
- Yacoob Sahal
- Yakabe Ryota
- Yamaguchi Daiki
- Yamaguchi Yohei
- Yamamoto Akira
- Yamamoto Shimpei
- Yamanaka Takashi
- Yamauchi Katsuya
- Yamazaki Yuji
- Yan Zhen
- Yang Haijun
- Yang Hongtao
- Yang Yi
- Yang Zongchang
- Yao Weiming
- Yap Yee Chinn
- Yasu Yoshiji
- Yatsenko Elena
- Yau Wong Kaven Henr
- Ye Jingbo
- Ye Shuwei
- Yeletskikh Ivan
- Yen Andy L
- Yildirim Eda
- Yorita Kohei
- Yoshida Rikutaro
- Yoshihara Keisuke
- Young Charles
- Young Christophe
- Youssef Saul
- Yu David Ren-
- Yu Jaehoon
- Yu Jiaming
- Yu Jie
- Yuan Li
- Yuen Stephanie
- Yusuff Imran
- Zabinski Bartlomiej
- Zaidan Remi
- Zaitsev Alexander
- Zakharchuk Nataliia
- Zalieckas Justas
- Zaman Aungshuman
- Zambito Stefano
- Zanello Lucia
- Zanzi Daniele
- Zeitnitz Christian
- Zeman Martin
- Zemla Andrzej
- Zeng Jian Cong
- Zeng Qi
- Zengel Keith
- Zenin Oleg
- Zerwas Dirk
- Zhang Dongliang
- Zhang Fangzhou
- Zhang Guangyi
- Zhang Huijun
- Zhang Jinlong
- Zhang Lei
- Zhang Rui
- Zhang Ruiqi
- Zhang Xueyao
- Zhang Zhiqing
- Zhao Xiandong
- Zhao Yongke
- Zhao Zhengguo
- Zhemchugov Alexey
- Zhong Jiahang
- Zhou Bing
- Zhou Chen
- Zhou Lei
- Zhou Li
- Zhou Mingliang
- Zhou Ning
- Zhu Cheng Guan
- Zhu Hongbo
- Zhu Junjie
- Zhu Yingchun
- Zhuang Xuai
- Zhukov Konstantin
- Zibell Andre
- Zieminska Daria
- Zimine Nikolai
- Zimmermann Christoph
- Zimmermann Stephanie
- Zinonos Zinonas
- Zinser Markus
- Ziolkowski Michael
- Zobernig Georg
- Zoccoli Antonio
- zur Nedden Martin
- Zurzolo Giovanni
- Zwalinski Lukasz
- Åkesson Torsten Pa
- Åsman Barbro
- Ženiš Tibor
- Živković Lidija
- Άlvarez Piqueras Damián
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 08/08/2016
- Field of study
- …