43 research outputs found
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.
- Author
- Abigail Hynes
- Aditya Mandal
- Adrian Barnardo
- Aftab Ala
- Agostino Colli
- Alan Shepherd
- Alan Watson
- Alastair McNair
- Alberto Mattalia
- Alexandra McKay
- Alice Wright
- Alison Brind
- Alison Loftus
- Alison Paton
- Alistair King
- Allister Grant
- Altaf Palegwala
- Amir Shah
- Amit Singhal
- Ana Lleo
- Andrea Broad
- Andrea Crosignani
- Andrea Galli
- Andrew Austin
- Andrew Bathgate
- Andrew Bell
- Andrew Burroughs
- Andrew Chilton
- Andrew Davis
- Andrew Douds
- Andrew Douglass
- Andrew Fraser
- Andrew Gibbins
- Andrew Higham
- Andrew L Mason
- Andrzej Piotrowicz
- Andy Li
- Angelo Andriulli
- Anna Fouracres
- Annarosa Floreani
- Anne Eastick
- Anton Gunasekera
- Antonio Benedetti
- Antonio Picciotto
- Aruna Dias
- Ashis Mukhopadhya
- Ashley Brown
- Asifabbas Naqvi
- Athar Saeed
- Bal Shinder
- Barbara Coco
- Barbara Foglieni
- Barbara Hoeroldt
- Becky Holbrook
- Beverley Longhurst
- Bob Grover
- Brian D. Juran
- Bridget Bird
- Bridget Gunson
- Bronwen Williams
- Bruce R Bacon
- Caradog Thomas
- Carl A. Anderson
- Carlo Ferrari
- Carly Brown
- Carmela Cursaro
- Carol Thomas
- Carole Collins
- Carole Foale
- Caroline Cowley
- Caroline Hamilton
- Caroline Lawlor
- Caroline Mulvaney-Jones
- Caroline Palmer
- Carolyn MacNicol
- Caron Innes
- Casey S. Greene
- Catherine Gray
- Catherine Vincent
- Charles Grimley
- Charles Millson
- Chin Lye Ch'ng
- Chris Evans
- Chris Ford
- Christine Dickson
- Christopher Healey
- Christopher Hovell
- Christopher I. Amos
- Christopher Macdonald
- Christopher Shallcross
- Christopher Shorrock
- Claire Duggan
- Claudio Tiribelli
- Craig Lammert
- Cristina Barlassina
- Cynthia Levy
- D Williams
- Dakai Zhu
- Daniel Forton
- Daniele Cusi
- Daniele Prati
- Darren Clement
- David C. Qian
- David Elphick
- David Gorard
- David Jones
- David Neal
- David Ramanaden
- David Tyrer
- Dawn Sirdefield
- Deb Ghosh
- Debashis Das
- Delyth Braim
- Denise Gocher
- Denise O'Donnell
- Dermot Gleeson
- Diane Simpson
- Domenico Alvaro
- Donna Cotterill
- Douglas Thorburn
- Earl Williams
- Eileen Marshall
- Eleanor Dungca
- Elizabeth J Atkinson
- Elizabeth Tanqueray
- Elva Wilhelmsen
- Emily Archer
- Emma Durant
- Emma Grieve
- Emma Gunter
- Erik M Schlicht
- Ervin Shpuza
- Estelle Nambela
- Esther Unitt
- Fabio Macaluso
- Fabio Marra
- Faiz Ali
- Federica Malinverno
- Filomena Morisco
- Fiona Gordon
- Fiona Wright
- Floriano Rosina
- Florin Muscariu
- Frances Hines
- Francesca Bernuzzi
- Gang Xie
- Gary Bray
- Gayle Clifford
- Geeta Prasad
- George Abouda
- George Bird
- George F. Mells
- George Lipscomb
- George MacFaul
- Giancarlo Spinzi
- Gianfranco Elia
- Gideon M. Hirschfield
- Gill Watts
- Giovanni Casella
- Glynis Stansfield
- Gordon Wood
- Graeme Alexander
- Graham Butcher
- Graham Foster
- Grazia A Niro
- Gregory Whatley
- Greta Van Duyvenvoorde
- Guan Lim
- Gwen Baxter
- Hannah Dewhurst
- Harriet Gordon
- Harriet Mitchison
- Heather J. Cordell
- Helen Doyle
- Helen Fairlamb
- Helen Sweeting
- Helen Wooldridge
- Hemant Gupta
- Henry C Bodenheimer Jr
- Hilary Pateman
- Howard Curtis
- Howard Klass
- Hyder Hussaini
- Hye-Jeong Lee
- Ian Drake
- Ian Gee
- Ian Gooding
- Ian Rees
- Ilaria Bianchi
- Ilaria Sogno
- Imran Patanwala
- Imroz Salam
- Isobel Amey
- Jaber Gasem
- Jacky Orpe
- Jacqueline Brighton
- James A. B. Floyd
- James Featherstone
- James Gotto
- James Neuberger
- Jane Bowles
- Jane Collier
- Jane Gitahi
- Jane Maiden
- Jane Metcalf
- Janeane Hails
- Janette Curtis
- Janie Keggans
- Janine Musselwhite
- Javaid Subhani
- Jayne Jones
- Jean Kordula
- Jeff Butterworth
- Jennie Kendall
- Jennifer Morrison
- Jeremy Shearman
- Jeremy Tibble
- Jessica Whiteman
- Jia Qu
- Jill Conder
- Jinyi Zhang
- Jo Ridpath
- Joanna Allison
- Joanna Sayer
- Jocelyn Fraser
- John Dillon
- John Mclindon
- John Ramage
- Jonathan Booth
- Jonathan Brown
- Joseph A Odin
- Joy Sadeghian
- Joy Wilkins
- Julia Maltby
- Julie Browning
- Julie Colley
- Julie Tregonning
- Juliette Verheyden
- Kapil Kapur
- Karen Hogben
- Karen Warner
- Karin Young
- Kate Martin
- Kate Ocker
- Katharine Pollock
- Katherine A. Siminovitch
- Katherine I. Morley
- Kathryn Houghton
- Katie Seward
- Katie Spurdle
- Keith Elliott
- Keith George
- Kelly Amor
- Kerenza Boulton
- Kerry Flahive
- Kevin Yoong
- Kimberley Netherton
- Kirsten Walker
- Kirsty Martin
- Konrad Koss
- Konstantinos N. Lazaridis
- LaiTing Tan
- Landon L Chan
- Leonie Grellier
- Linda Jones
- Linda Kent
- Linda March
- Lisa Morgan
- Liz Farrington
- Lizzie Stafford
- Lola Dali-kemmery
- Lorenzo Morini
- Lorraine Hankey
- Lory Saveria Crocè
- Louise Winter
- Lourdes Cumlat
- Luca Fabris
- Lucie Hobson
- Luigi Muratori
- Lyn Graves
- Lynn Currie
- Lynn O'Donohoe
- M. Eric Gershwin
- Maggie Hughes
- Mandy Carnahan
- Marco Carbone
- Marco Marzioni
- Marek Czajkowski
- Maria Consiglia Bragazzi
- Maria Francesca Donato
- Maria Hamilton
- Maria Hayes
- Maria Vinci
- Mariam Nasseri
- Marie Green
- Marie Quinn
- Marina Leoni
- Mario Strazzabosco
- Marisa Mills
- Mariza de Andrade
- Mark Ainsworth
- Mark Aldersley
- Mark Cox
- Mark Narain
- Mark Wilkinson
- Mark Wright
- Markus Gess
- Marta Spreafico
- Martin Lombard
- Martin Prince
- Martyn Carter
- Mary Crossey
- Mary Ninkovic
- Massimo Colombo
- Massimo Zuin
- Matthew Brookes
- Matthew Cowan
- Matthew Cramp
- Matthew Foxton
- Maurizia Brunetto
- Mauro Podda
- Maxton Pitcher
- Mazn Karmo
- Mcdonald Mupudzi
- Melanie Harrison
- Melanie Kent
- Mervyn Davies
- Mesbah Rahman
- Metod Oblak
- Michael F. Seldin
- Michael Heneghan
- Mike Mendall
- Minesh Patel
- Mirko Tarocchi
- Mohamed Dawwas
- Mousa Hani S
- Natalie Taylor
- Natalie Wheatley
- Neil Fisher
- Nicholas Sharer
- Nicola Lancaster
- Nikki White
- Noma Ncube
- null null
- null null
- null null
- Nurani Sivaramakrishnan
- Oza Chirag
- Paolo Muratori
- Parizade Raymode
- Patrick Goggin
- Paul Banim
- Paul Kitchen
- Paul Richardson
- Paul Southern
- Paula Townshend
- Peter Bramley
- Peter K Gregersen
- Peter Mills
- Phillipa Desousa
- Pier Maria Battezzati
- Pierluigi Toniutto
- Piero L Almasio
- Piero Portincasa
- Pietro Andreone
- Pietro Invernizzi
- Piotr Milkiewicz
- Pradeep Sanghi
- Pranab Gyawali
- PuiChing Chan
- Purushothaman Premchand
- Rachel Abrahams
- Raj Srirajaskanthan
- Ray Mathew
- Ray Shidrawi
- Rebecca Bishop
- Rebecca Casey
- Rebecca Cloudsdale
- Rebecca Jones
- Renzo Montanari
- Reuben Ayres
- Richard Aspinall
- Richard Evans
- Richard Marley
- Richard Miller
- Richard N. Sandford
- Richard Sturgess
- Robert P Myers
- Robert Przemioslo
- Roberta Lazzari
- Roger McCorry
- Roland Ede
- Roman Galaska
- Rory Harvey
- Rosanna Fontana
- Rose Damant
- Rupert Ransford
- Ruth Penn
- Saket Singhal
- Sally Batham
- Sally-Ann Rolls
- Sallyanne Pearson
- Samantha Ducker
- Sambit Sen
- Samir Vyas
- Sandra Greer
- Sanjiv Jain
- Sarah Besley
- Sarah Jones
- Sarah Thornthwaite
- Sass Levi
- Savino Bruno
- Senayon Desmennu
- Sharat Misra
- Sherill Tripoli
- Silvia Colombo
- Simon Dyer
- Simon Panter
- Simon Rushbrook
- Simon Taylor-Robinson
- Simon Whalley
- Simon Williams
- Sonia Rossi
- Sonia Tarallo
- Sophie Holder
- Stephen D Ryder
- Steve Pereira
- Steven Mann
- Stewart Campbell
- Subramaniam Ramakrishnan
- Subrata Saha
- Sue Glenn
- Sue Walsh
- Sunil Dolwani
- Susan Congreave
- Susan Gallagher
- Susan Jones
- Susan Lord
- Susan Slininger
- Sushma Saksena
- Suzie Marriott
- Syed Shaukat
- Talal Valliani
- Theodore Ngatchu
- Thiriloganathan Mathialahan
- Tim Harding
- Tobias Balschun
- Toby Delahooke
- Tom Lee
- Tom Yapp
- Tracey Shewan
- Udi Shmueli
- Valentina Liakina
- Valeria Silvestre
- Velimir A Luketic
- Victoria Lambourne
- Vincenzo O Palmieri
- Vincenzo Ronca
- Voi Shim Wong
- William Stableforth
- Yafang Li
- Yeng Ang
- Yolanda Baird
- Younghun Han
- Publication venue
- Nat Commun
- Publication date
- 01/01/2015
- Field of study
Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10(-8)) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist
International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways
- Author
- 94
- Abigail Hynes 159
- Aditya Mandal
- Adrian Barnardo 182
- Aftab Ala 138
- Agostino Colli 45
- Alan Shepherd 213
- Alan Watson 81
- Alastair McNair 175
- Alberto Mattalia 54
- Alexandra McKay 132
- Alice Wright 245
- Alison Brind 294
- Alison Loftus 91
- Alison Paton 119
- Alistair King
- Allister Grant
- Almasio 33 Piero L.
- Altaf Palegwala 98
- Amir Shah 189
- Amit Singhal
- Amos 2 Christopher I.
- Ana Lleo 12
- Anderson 8 Carl A.
- Andrea Broad 139
- Andrea Crosignani 39
- Andrew Austin 119
- Andrew Bell 305
- Andrew Burroughs 249
- Andrew Chilton 166
- Andrew Douds 243
- Andrew Gibbins 122
- Andrew Higham 293
- Andrew Bathgate
- Andrew Davis
- Andrew Douglass
- Andrew Fraser
- Andrzej Piotrowicz
- Andy Li 303
- Angelo Andriulli 37
- Anna Fouracres 247
- Annarosa Floreani 51
- Anne Eastick
- Anton Gunasekera
- Antonio Benedetti 40
- Antonio Picciotto 59
- Aruna Dias 82
- Ashis Mukhopadhya
- Ashley Brown
- Asifabbas Naqvi
- Athar Saeed 139
- Atkinson 19 Elizabeth J.
- Bacon 28 Bruce R.
- Bal Shinder 258
- Barbara Coco 43
- Barbara Foglieni 11
- Barbara Hoeroldt 244
- Becky Holbrook 222
- Beverley Longhurst 240
- Bob Grover 151
- Bodenheimer Jr 29 Henry C.
- Bridget Bird 191
- Bridget Gunson 287
- Bronwen Williams
- Caradog Thomas
- Carlo Ferrari 49
- Carly Brown 270
- Carmela Cursaro 36
- Carol Thomas 156
- Carole Collins 300
- Carole Foale 138
- Caroline Cowley 182
- Caroline Mulvaney Jones
- Caroline Hamilton
- Caroline Lawlor
- Caroline Palmer
- Carolyn MacNicol 163
- Caron Innes
- Catherine Vincent 31
- Catherine Gray
- Chan 19 Landon L.
- Charles Grimley
- Charles Millson
- Chin Lye Ch’
- Chris Evans 190
- Chris Ford
- Christine Dickson 239
- Christopher Healey 71
- Christopher Hovell 122
- Christopher Shorrock 90
- Christopher Shallcross
- Claire Duggan 159
- Claudio Tiribelli 48
- Cordell Heather J.
- Craig Lammert 7
- Cristina Barlassina 38
- Cynthia Levy 32
- Dakai Zhu 2
- Daniel Forton 275
- Daniele Prati 11
- Daniele Cusi
- Darren Clement 294
- David Elphick 106
- David Jones 188
- David Ramanaden 86
- David Tyrer 252
- David Gorard
- David Neal
- Dawn Sirdefield
- Deb Ghosh
- Debasish Das 166
- Delyth Braim
- Denise Gocher 289
- Denise O’
- Dermot Gleeson
- Diane Simpson 239
- Domenico Alvaro 35
- Donna Cotterill 305
- Douglas Thorburn 249
- Earl Williams 246
- Eileen Marshall 249
- Eleanor Dungca 107
- Elizabeth Tanqueray 221
- Elva Wilhelmsen 165
- Emily Archer 271
- Emma Grieve 196
- Emma Gunter 246
- Emma Durant
- Eric Gershwin 15 M.
- Ervin Shpuza
- Estelle Nambela
- Esther Unitt 289
- Fabio Macaluso 34
- Faiz Ali 156
- Federica Malinverno 46
- Filomena Morisco 57
- Fiona Gordon 288
- Fiona Wright 189
- Floriano Rosina 60
- Florin Muscariu
- Floyd James A. B.
- Frances Hines
- Francesca Bernuzzi 41
- Galli Andrea
- Gang Xie
- Gary Bray 272
- Gayle Clifford 270
- Geeta Prasad 285
- George Lipscomb 91
- George MacFaul 187
- George Abouda
- George Bird
- Giancarlo Spinzi 61
- Gianfranco Elia 49
- Gill Watts 285
- Giovanni Casella 44
- Glynis Stansfield 163
- Gordon Wood 140
- Graeme Alexander 101
- Graham Foster 80
- Graham Butcher
- Greene Casey S.
- Gregersen Peter K.
- Gregory Whatley 280
- Greta Van Duyvenvoorde 90
- Guan Lim 135
- Gwen Baxter 191
- Hannah Dewhurst 246
- Harriet Gordon 145
- Harriet Mitchison 107
- Helen Doyle 109
- Helen Wooldridge 117
- Helen Fairlamb
- Helen Sweeting
- Hemant Gupta
- Hilary Pateman
- Hirschfield Gideon M.
- Howard Curtis
- Howard Klass
- Hyder Hussaini 247
- Hye Jeong Lee 167
- Ian Gooding 108
- Ian Rees 157
- Ian Drake
- Ian Gee
- Ilaria Bianchi 41
- Ilaria Sogno 41
- Imran Patanwala 252
- Imroz Salam 158
- Isobel Amey 304
- Jaber Gasem 87
- Jacky Orpe 256
- Jacqueline Brighton 138
- James Featherstone 147
- James Gotto 314
- James Neuberger 287
- Jane Bowles 318
- Jane Collier 231
- Jane Gitahi 288
- Jane Maiden 98
- Jane Metcalf
- Janeane Hails 101
- Janette Curtis 278
- Janie Keggans 191
- Janine Musselwhite
- Javaid Subhani 83
- Jayne Jones 260
- Jean Kordula
- Jeff Butterworth
- Jennie Kendall
- Jennifer Morrison 222
- Jeremy Shearman 271
- Jeremy Tibble 93
- Jessica Whiteman
- Jia Qu 25
- Jill Conder 293
- Jinyi Zhang 23
- Jo Ridpath 147
- Joanna Allison
- Joanna Sayer
- Jocelyn Fraser 304
- John Dillon 214
- John Ramage 146
- John Mclindon
- Jonathan Booth 245
- Jonathan Brown
- Joy Sadeghian 153
- Joy Wilkins 164
- Julia Maltby 253
- Julie Colley 258
- Julie Browning
- Julie Tregonning
- Juliette Verheyden
- Juran 7 Brian D.
- Kapil Kapur 79
- Karen Hogben 122
- Karen Warner
- Karin Young 196
- Kate Martin 252
- Kate Ocker 199
- Katharine Pollock
- Kathryn Houghton 188
- Katie Seward 92
- Katie Spurdle
- Keith Elliott 79
- Keith George 265
- Kelly Amor 255
- Kerenza Boulton 265
- Kerry Flahive 140
- Kevin Yoong 183
- Kimberley Netherton 283
- Kirsten Walker
- Kirsty Martin
- Konrad Koss 126
- LaiTing Tan 135
- Lazaridis 7 Konstantinos N.
- Leonie Grellier 164
- Linda Jones 245
- Linda March 238
- Linda Kent
- Lisa Morgan 302
- Liz Farrington 247
- Lizzie Stafford 231
- Lola Dali kemmery 253
- Lorenzo Morini 56
- Lorraine Hankey 122
- Lory Saveria Croce ` 48
- Louise Winter 312
- Lourdes Cumlat 306
- Luca Fabris 50
- Lucie Hobson
- Luigi Muratori 36
- Luketic 27 Velimir A.
- Lyn Graves 247
- Lynn Currie
- Lynn O’
- Maggie Hughes
- Mandy Carnahan
- Marco Carbone 101
- Marco Marzioni 40
- Marek Czajkowski
- Maria Consiglia Bragazzi 42
- Maria Francesca Donato 46
- Maria Hayes 240
- Maria Vinci 65
- Maria Hamilton
- Mariam Nasseri 151
- Marie Green 254
- Marie Quinn 303
- Marina Leoni 249
- Mario Strazzabosco
- Marisa Mills 260
- Mariza de Andrade 19
- Mark Ainsworth 231
- Mark Cox 295
- Mark Narain 159
- Mark Wright 286
- Mark Aldersley
- Mark Wilkinson
- Markus Gess 170
- Marra Fabio
- Marta Spreafico 11
- Martin Lombard 252
- Martin Prince 104
- Martyn Carter
- Mary Crossey
- Mary Ninkovic
- Mason 21 Andrew L.
- Massimo Colombo 46
- Massimo Zuin
- Matthew Brookes 254
- Matthew Cowan 279
- Matthew Cramp 238
- Matthew Foxton 105
- Maurizia Brunetto 43
- Mauro Podda 41
- Maxton Pitcher
- Mazn Karmo 109
- Mcdonald Mupudzi 286
- Melanie Harrison 70
- Melanie Kent
- Mells George F.
- Mervyn Davies
- Mesbah Rahman 68
- Metod Oblak 300
- Michael Heneghan 167
- Mike Mendall
- Minesh Patel
- Mohamed Dawwas 101
- Morley Katherine I.
- Mousa Hani S. 41
- Myers 22 Robert P.
- Natalie Taylor 265
- Natalie Wheatley 108
- Neil Fisher 123
- Nicholas Sharer 239
- Nicola Lancaster
- Nikki White
- Niro 37 Grazia A.
- Noma Ncube
- Nurani Sivaramakrishnan 186
- Odin 26 Joseph A.
- Oza Chirag
- Palmieri 58 Vincenzo O.
- Paolo Muratori 36
- Parizade Raymode 166
- Patrick Goggin 240
- Paul Banim 165
- Paul Kitchen 182
- Paul Richardson 252
- Paul Southern 92
- Paula Townshend
- Peter Bramley
- Peter Mills
- Phillipa Desousa
- Pier Maria Battezzati 39
- Pierluigi Toniutto 64
- Piero Portincasa 58
- Pietro Andreone 36
- Pietro Invernizzi
- Piotr Milkiewicz 24
- Pradeep Sanghi
- Pranab Gyawali 77
- PuiChing Chan 296
- Purushothaman Premchand 78
- Qian 2 David C.
- Rachel Abrahams 117
- Raj Srirajaskanthan 176
- Ray Shidrawi 153
- Ray Mathew
- Rebecca Bishop
- Rebecca Casey
- Rebecca Cloudsdale
- Rebecca Jones
- Renzo Montanari 55
- Reuben Ayres 248
- Richard Aspinall 240
- Richard Evans 88
- Richard Marley 80
- Richard Miller 183
- Richard Sturgess 70
- Robert Przemioslo 216 Christopher Macdonald
- Roberta Lazzari 51
- Roger McCorry 85
- Roland Ede
- Roman Galaska 71
- Rory Harvey 84
- Rosanna Fontana 37
- Rose Damant 98
- Rupert Ransford 313
- Ruth Penn
- Ryder Stephen D.
- Saket Singhal 258
- Sally Ann Rolls 156
- Sally Batham
- Sallyanne Pearson 244
- Samantha Ducker 188
- Sambit Sen 179
- Samir Vyas 257
- Sandford Richard N.
- Sandra Greer 312
- Sanjiv Jain 283
- Sarah Jones 159
- Sarah Besley
- Sarah Thornthwaite
- Sass Levi
- Savino Bruno 41
- Schlicht 7 Erik M.
- Seldin 15 Michael F.
- Senayon Desmennu
- Sharat Misra
- Sherill Tripoli
- Silvia Colombo 47
- Siminovitch Katherine A.
- Simon Panter 270
- Simon Rushbrook 215
- Simon Taylor Robinson 162
- Simon Williams 163
- Simon Dyer
- Simon Whalley
- Sonia Rossi 41
- Sonia Tarallo 60
- Sophie Holder
- Steve Pereira 284
- Steven Mann
- Stewart Campbell
- Subramaniam Ramakrishnan 296
- Subrata Saha 191
- Sue Glenn 106
- Sue Walsh 280
- Sunil Dolwani
- Susan Gallagher 294
- Susan Lord 118
- Susan Congreave
- Susan Jones
- Susan Slininger
- Sushma Saksena
- Suzie Marriott 248
- Syed Shaukat 152
- Talal Valliani 216
- Tarocchi Mirko
- Theodore Ngatchu
- Thiriloganathan Mathialahan 89
- Tim Harding
- Tobias Balschun 20
- Toby Delahooke
- Tom Yapp 69
- Tom Lee
- Tracey Shewan 279
- Udi Shmueli 221
- Valentina Liakina 30
- Valeria Silvestre 105
- Victoria Lambourne 253
- Vincenzo Ronca 41
- Voi Shim Wong 306
- William Stableforth 247
- Williams 197 D.
- Yafang Li
- Yeng Ang 312
- Yolanda Baird 304
- Younghun Han
- Publication venue
- Publication date
- 01/01/2015
- Field of study
Peri-operative red blood cell transfusion in neonates and infants: NEonate and Children audiT of Anaesthesia pRactice IN Europe: A prospective European multicentre observational study
- Author
- Adelais Tsiotou
- Adriana Gurita
- Afroditi Karafotia
- Albert Castellheim
- Alberto Izquierdo
- Alena Zlámalová
- Alessandra Moscarelli
- Alessandra Verzelloni
- Alessandro Vittori
- Alessia Montaguti
- Aliaksandra Parashchanka
- Alice Miskovic
- Alicia Chamizo
- Alicja Bartkowska-Sniatkowska
- Alison Hare
- Ana Mandras
- Ana Markić
- Ana Peleteiro
- Anda Zundane
- Anders Bastholm Bille
- Andrea Cortegiani
- Andrea Wolfler
- Andreas Machotta
- Andreas Weyland
- Andrew Blevin
- Andrew Robertson
- András Petróczy
- Angela Pistorio
- Anita Reil
- Anja Diers
- Ann Kvarnström
- Anna Camporesi
- Anna Guddo
- Anna Malisiova
- Anna-Ursina Malär
- Anne Laffargue
- Anne Lesage
- Anne M Beukers
- Annemie Bauters
- Anouk Van der Knijff-van Dortmont
- Anthony R Absalom
- Antonella Cotoia
- Arash Afshari
- Armin Flinspach
- Arta Barzdina
- Artemis Polyzoi
- Artur Baranowski
- Aslı Sagun
- Aurélien Legrand
- Aurélien Zang
- Ayse Çiğdem Tutuncu
- Balázs Hauser
- Barbe Pieters
- Barbora Cabanová
- Bas Van Zaane
- Beate Kuppers
- Benjamin Urbina
- Bernard Coustets
- Bernd Schmitz
- Bernhard Koller
- Biljana Drašković
- Brendan O'Hare
- Brigitte Messerer
- Brita De Lorenzo
- Bruno Guido Locatelli
- Camilla Micalizzi
- Carine Marcucci
- Carmel Cassar
- Carmelo Minardi
- Carmen Scott
- Carol Bodlani
- Carolin Aehling
- Carolina Tormo de Las Heras
- Caroline Couchepin
- Caroline Lejus-Bourdeau
- Caroline Pregardien
- Catarina Cruz Esteves
- Catherine Amory
- Catherine Baujard
- Ceferina Suárez Castaño
- Celia Allison
- Celia Arbona
- Cesare Vezzoli
- Chiara Grasso
- Chris Perry
- Christa Boer
- Christiane Goeters
- Christoph Eisner
- Christoph Menzel
- Christophe Dadure
- Chrystelle Sola
- Chulananda Goonasekera
- Claudia Hoehne
- Claudia Neumann
- Clelia Zanaboni
- Clemens Schorer
- Cristina Agapiti
- Cristina Auli
- Cristina González Serrano
- Cécile Magne
- Dan Gilpin
- Daniel Richter
- Daniela Lerro
- Daniela Pupacic
- Daphne Michelet
- Dario Galante
- Darja Janjatovic
- David Alders
- David Artés
- David Barnes
- David Kahn
- David Pachter
- de Graaff J. C.
- Despoina Iordanidou
- Diana Butković
- Dilek Özcengiz
- Dina Bert
- Dina Emal
- Disma N.
- Dmytro Dmytriiev
- Dolores Méndez
- Dorota Lewandowska
- Dusica Simic
- Edgar Székely
- Edoardo Calderini
- Eleana Garini
- Elena Attanasi
- Elena Gordeva
- Elena Lenares
- Elena Vilardell Ortíz
- Eliane Khalil
- Elisa Reponen
- Ellie Walker
- Elvan Öçmen
- Emanuele Rossetti
- Emese Nyíri
- Emilie Druot
- Emma Meehan
- Emma Pontén
- Erik Ramon Isern
- Ernesto Martínez García
- Erzsebet Sapi
- Esther Ngan
- Eva Schafrat
- Evangelia Bali
- Fabio Caramelli
- Fabio Sbaraglia
- Fanny Fabre
- Federico Bilotta
- Florence Julien-Marsollier
- France Stevens
- Francesca Pinzoni
- Francis Veyckemans
- Francisco Escribá
- Frank Wappler
- Franz-Josef Kretz
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- Fuchs A.
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- Gabriel Mocioiu
- Gail Scoones
- Gema Pino
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- Gergely Göbl
- Gert-Jan Scheffer
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- Joy Abbott
- Judit Csillag
- Juliet Wolfe Barry
- Juliette Godart
- Jurgen Dertinger
- Jurgen Van Limmen
- Jutta Scheffczik
- János Gál
- Kai Zacharowski
- Kariantti Kallio
- Karin Becke
- Karin Hochmuth
- Karin Jonckheer
- Karin Oeinck
- Karin Oppenrieder
- Karina Jakubowska
- Karine Nouette Gaulain
- Kathryn James
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- Kerstin Sandström
- Kevin Goddard
- Khairi Shah
- Koen Lapage
- Kristoffer Stensrud
- L Amaki Sogbodjor
- Laszlo Vutskits
- Laura Brigitta Colantonio
- Laura Lukosiene
- Laurent Hertz
- Leila Mameli
- Leila Messroghli
- Lena Brunner
- Lenka Knoppová
- Lesley McKee
- Li-En Tan
- Lilica Ros
- Lindsay Crate
- Lisa Daniels
- Lonneke Staals
- Loredana Oana
- Luc De Baerdemaeker
- Luc Tielens
- Lucia Scordo
- Lucie Sabau
- Luminita Ilie
- Lynn Uhrig
- Lynne Waring
- Léa Petry
- Magdalena Juzwa-Sobieraj
- Magdalena Mierzewska-Schmidt
- Magdalena Urban-Lechowicz
- Maja Suica
- Malgorzata Grzeskowiak
- Mandy Jackson
- Manuela Platzer
- Margot Bergsma
- Marguerite Ellekvist
- Mari-Liis Ilmoja
- Maria Cristina Mondardini
- Maria Domingas Patuleia
- Maria Garcia
- Maria João Santos
- Maria Sammartino
- Maria Soares
- Maria Vittinghof
- Mariangela Giombini
- Marianne Veldhuizen
- Marieke Voet-Lindner
- Marielle Buitenhuis
- Marija Stevic
- Marina Pandurov
- Marinella Astuto
- Mark Hendriks
- Mark Ross
- Mark Worrall
- Markus Stevens
- Markus Weigand
- Markus Wilbs
- Martin Hölzle
- Martin Jöhr
- Martin Söhle
- Martin Vavřina
- Martin Volkers
- Martina Stichlberger
- Maryline Bordes
- Marzena Zielinska
- María Isabel Villalobos Rico
- Mathias Marchon
- Matthias Klages
- Mattias Casutt
- Maurizia Grazzini
- Mehdi Bennis
- Melanie Schäfer
- Merja Kokki
- Merle Väli
- Michael Laschat
- Michael Schöler
- Michaela Löffler
- Michal Frelich
- Michelle Casey
- Michelle Quinney
- Micol Maffioletti
- Mihai Morariu
- Miia Kokkonen
- Miloslav Hanula
- Mine Akin
- Miriam Ochsenreiter
- Mirjana Knezevic
- Mirko Dolci
- Monica Gandhi
- Montserrat Suarez Comas
- Moreno Favarato
- Mustafa Azizoglu
- Myriam Bellon
- Nada Sabourdin
- Nadia Najafi
- Nadine Dobby
- Nalini Malarkkan
- Nandor Kosik
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- NECTARINE Group of the European Society of Anaesthesiology and Intensive Care Clinical Trial Network: Christian Breschan
- Nicola Zadra
- Nicolas Leister
- Nikola Stankovic
- Nil Ekiz
- Noemie Audren
- Nurcan Doruk
- Nuria Masip
- Nuria Montferrer Estruch
- Olivier Jacqmarcq
- Osvaldo Pérez Pardo
- Pablo De la Arena
- Pablo Troncoso Montero
- Paloma Rubio
- Panagoula Mammi
- Paul Martin
- Paul Smith
- Paul Stevens
- Pedro Pina
- Pelagia Chloropoulou
- Pelin Corman Dincer
- Pertti Suominen
- Peter Brooks
- Peter Frykholm
- Peter Kranke
- Petr Reimer
- Petra Cajková
- Petronella Mari Vermeulen
- Philippa Dix
- Philippe Pirat
- Philippe Roulleau
- Piet Wyffels
- Pilar Del Rey de Diego
- Pinar Kendigelen
- Pinelopi Papagiannopoulou
- Piotr Sawicki
- Pomianek Przemyslaw
- Prakash Krishnan
- Rachele Bonfiglio
- Radu Tabacaru
- Rainer Dörenberg
- Raisa Vähätalo
- Rebecca Pad
- Reet Kikas
- Reet Moor
- René Urbanec
- Richard Ellerkmann
- Rients De Boer
- Rita Scalisi
- Riva T.
- Rob Bomont
- Roberto Leone
- Robin Sunderland
- Rodica Badeti
- Rodrigo Poves-Álvarez
- Rose Fesseau
- Rossella Garra
- Rudolf Likar
- Ruth Cohausz
- Ruth Kroess
- Sadia Adil
- Sam De Silva
- Sami Suvanto
- Sandra Kralik
- Sandra Lako
- Sandra Numan
- Sara Mele
- Sarah Bell
- Sarah Gallagher
- Sascha Haussmann
- Sascha Meier
- Sebastian Richter
- Sebastian Weiterer
- Selena Puric Racic
- Sergio Picardo
- Shahab Ghamari
- Sibel Baris
- Silvia López
- Silvia Serrano
- Simona Anna Finamore
- Simone Lindau
- Simonetta Tesoro
- Sinead Harte
- Sirin Yücetepe
- Sladjana Vasiljevic
- Sophie Childs
- Souhayl Dahmani
- Sporre Bengt
- Sridevi Kuchi
- Stefan De Hert
- Stefan Heschl
- Stefan Seiler
- Stefano Scalia Catenacci
- Stephanie Bew
- Stephanie Jinks
- Stephanie King
- Stephanie Mifsud
- Stuart Blain
- Suellen Walker
- Susana Manrique Muñoz
- Susanna Keilig
- Svetlana Kotzeva
- Sílvia Pinho
- Teresa Leal
- Thierry Pirotte
- Thomas Bruelisauer
- Thomas Descarpentries
- Thomas Erb
- Thomas Fischer
- Thomas Hurni
- Thomas Mueller
- Tjerk Zweers
- Tom Hansen
- Tom Terboven
- Torsten Baehner
- Tumay Umuroglu
- Tuula Manner
- Ulf Lindestam
- Ulmer F.
- Uwe Trieschmann
- Vagia Ntritsou
- Valentin Munteanu
- Valter Sonzogni
- Veronika Maráczi
- Veronique Depret-Donatien
- Vesna Marjanovic
- Victoria Barlow
- Vimmi Oshan
- Virag K.
- Vladimír Mixa
- Wenche B Boerk
- Wolfgang Buhre
- Yann Bögli
- Yann Hamonic
- Yesim Senayli
- Yvona Sedláčková
- Yvonne Jelting
- Zane Straume
- Zdenka Rados
- Zeenat Nawoor
- Zehra Hatipoğlu
- Çimen Olguner
- Špela Pirtovšek Štupnik
- Publication venue
- 'Ovid Technologies (Wolters Kluwer Health)'
- Publication date
- 01/01/2022
- Field of study
BACKGROUND: Little is known about current clinical practice concerning peri-operative red blood cell transfusion in neonates and small infants. Guidelines suggest transfusions based on haemoglobin thresholds ranging from 8.5 to 12 g dl-1, distinguishing between children from birth to day 7 (week 1), from day 8 to day 14 (week 2) or from day 15 (≥week 3) onwards. OBJECTIVE: To observe peri-operative red blood cell transfusion practice according to guidelines in relation to patient outcome. DESIGN: A multicentre observational study. SETTING: The NEonate-Children sTudy of Anaesthesia pRactice IN Europe (NECTARINE) trial recruited patients up to 60 weeks' postmenstrual age undergoing anaesthesia for surgical or diagnostic procedures from 165 centres in 31 European countries between March 2016 and January 2017. PATIENTS: The data included 5609 patients undergoing 6542 procedures. Inclusion criteria was a peri-operative red blood cell transfusion. MAIN OUTCOME MEASURES: The primary endpoint was the haemoglobin level triggering a transfusion for neonates in week 1, week 2 and week 3. Secondary endpoints were transfusion volumes, 'delta haemoglobin' (preprocedure - transfusion-triggering) and 30-day and 90-day morbidity and mortality. RESULTS: Peri-operative red blood cell transfusions were recorded during 447 procedures (6.9%). The median haemoglobin levels triggering a transfusion were 9.6 [IQR 8.7 to 10.9] g dl-1 for neonates in week 1, 9.6 [7.7 to 10.4] g dl-1 in week 2 and 8.0 [7.3 to 9.0] g dl-1 in week 3. The median transfusion volume was 17.1 [11.1 to 26.4] ml kg-1 with a median delta haemoglobin of 1.8 [0.0 to 3.6] g dl-1. Thirty-day morbidity was 47.8% with an overall mortality of 11.3%. CONCLUSIONS: Results indicate lower transfusion-triggering haemoglobin thresholds in clinical practice than suggested by current guidelines. The high morbidity and mortality of this NECTARINE sub-cohort calls for investigative action and evidence-based guidelines addressing peri-operative red blood cell transfusions strategies. TRIAL REGISTRATION: ClinicalTrials.gov, identifier: NCT02350348
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
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- Förste Silke
- Gabisi Abdul M.
- Gage Diane
- Gaige Tony
- Galgoczy Petra
- Gallegos Celsa
- Galvez Michael
- Gammon Stuart
- Gao Anwu
- Gao Jimei
- Gao Quan
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- Gao Yimei
- Garcia Carmen
- Garcia Emilio
- Garcia Marvin
- Garcia Ricardo M, III
- Garcia-Martinez Antonio
- Gardner Alison
- Gardner Alison
- Garduno Consuelo
- Gardyna Steph
- Garner Patrick
- Garner Toni T.
- Garnes Jeffrey A.
- Garnett Jane
- Garza Melissa
- Gatewood Joseph M.
- Gatland Leigh
- Gatland Lindsay
- Gattung Stacie
- Gay Laura
- Gearin Gary
- Gebreyesus Binyam
- Gelein Cynthia
- Gelpke Maartin
- Gench Stephanie L.
- Geng Jianing
- Georgescu Anca
- Geotina Amy
- Ghori Jilur
- Ghose Sayantan
- Gibbs Ben
- Gibbs Richard A.
- Gibson Diane
- Gibson Elizabeth
- Gifford Mary
- Gil Isaias
- Gilbert James
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- Gill Rachel
- Gillet Will
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- Glithero Rebecca
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- Gold Darren
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- Gomez Maria
- Gong Guanghui
- Gong Jinying
- Gonzales Eidelyn
- Gonzalez Guillermo B.
- Gooderham April
- Goodstadt Leo
- Goodstein David
- Goodwin Lynne A.
- Gordon Catherine
- Gordon Laurie A.
- Gordon Seth
- Gorton Matthew
- Gorvad Ann
- Gould Christine
- Goyea Ernest
- Goyette Audra
- Grady Deborah I.
- Grady Michelle L.
- Grafham Darren
- Graham Joe
- Grandbois Edward
- Grant Jennifer
- Grant Michael
- Grant Susan
- Graves Tina A.
- Gray Bruce
- Gray Emma
- Gray Lain
- Green Lisa
- Greenhalgh James
- Greenhill Joe
- Gregg Philippa
- Gregory Simon
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- Gribble Susan
- Griffith Jeffrey K.
- Griffiths Coline
- Griffiths Ed
- Griffiths Mark
- Griffiths-Jones Sam
- Grigoriev Igor
- Grimwood Jane
- Grocock Russell
- Groza Matthew
- Gu Jingli
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- Gu Jun
- Gu Wenyi
- Gu Wenyi
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- Guarin Hannibal
- Guel Metzalli
- Guerra William
- Guevara Whitney V.
- Gui Qi
- Gunaratne Preethi
- Gunning Kate
- Guo Daorong
- Guo Jane
- Guo Lili
- Gustafson Erik
- Guthrie Ian
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- Ha Chi
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- Hall Brett Lynn
- Hall Brittany
- Hall Jennifer
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- Hamilton Matt
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- Hammon Nancy
- Hammond Martin
- Hammond Sha
- Hammond Sian
- Hamza Khalid
- Han Guiqing
- Han Shunsheng
- Han Xurong
- Hanak Vincent A.
- Hancock Julie
- Harbes Brandy A.
- Harding Adam
- Harkins C. Richard
- Harley Joanne
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- Hashimoto Wakako
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- Haugen Eric
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- Havlak Paul
- Hawes Alicia C.
- Hawkins Ebere Sylvia Onyirioha
- Hawkins Natalie
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- Hewitt Stephen
- Heyen Joshua
- Higgs Douglas
- Hildebrand Carl E.
- Hillier LaDeana
- Hillyard Guy
- Hines Sandra
- Hinkins Russell
- Hinrichs Angela S.
- Hitchens Matthew Edward
- Ho Issac
- Ho Sara-Jane
- Hodgson Anne V.
- Hodgson David
- Hoffman Susan M.G.
- Hoffs Michael
- Hogues Marilyn E.
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- Holtzer Caleb
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- Homsi Farah J.
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- Huang Wei
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- Hupman Matt
- Huynh Sandy
- Hyde David
- Hynds Christopher
- Idlebird Devincent G.
- Iliev Ilian
- Imbro Paula
- Imo Kelvin C.
- Inacio Nicole
- Inagaki Naomi
- Ince Michael
- Ingram Drew
- Inoue Shuuji
- Isak Amber
- Isherwood Judith
- Ishibashi Akiko
- Ishikawa Sabine K.
- Ishizaki Hinako
- Isozaki Emi
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- Iwatate Mariko
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- Izatt Janet
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- Jackson Terri
- Jacob Leni Susan
- Jaeger Sara
- Jaffe David B.
- Jahn Niels
- Jaklevic Joseph
- Jaklevic Michael
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- Jareborg Niclas
- Jarek Michael
- Jassal Bijay
- Jeffery Grant
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- Jekosch Kerstin
- Jenkins Lee
- Jett Jamie
- Jewett Phillip E.
- Jia Jia
- Jia Jia
- Jia Nan
- Jia Xingchang
- Jiang Lu
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- Jimenez Alberto
- Jin Jian
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- Jones Micheil
- Jones Myrna D.
- Jones Steven
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- Keefe Damian
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- Keenan Stephen
- Kegelmeyer Laura
- Kegg Lisa
- Kelley Simon
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- Kelly Shayna P.
- Kelly Susan H.
- Kershaw Joanna
- Kettleborough Ross
- Keys David
- Khan Arsi
- Khan Umer F.
- Khan Ziad Mohid
- Khine Susu
- Khurama Divya
- Kidd Cathy
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- Kodira Chinnappa
- Kohlberg Sara
- Kojima Kazuyasu
- Kolbe William
- Kong Yi
- Korf Ian
- Kosiura Anna
- Kou Zhaohui
- Kovar Christie L.
- Krawczyk Marie-Claude
- Kremitzki Colin
- Kremmidiotis Gabriel
- Krogh Anders
- Kronmiller Brent
- Kruchowski Scott S.
- Kube Michael
- Kubischta Duane
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- Lamerdin Jane E.
- Lander Eric S.
- Landers Tom
- Langford Cordelia
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- Lapidus Alla
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- Leversha Margaret
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- Lewis Keith
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- Lim Meng K.
- Lindblad-Toh Kerstin
- Lindo Ken
- Lindquist K.
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- Longmire Johnathan L.
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- Lou Yunian
- Loulseged Hermela
- Loveland Jane
- Lovell Jamie
- Lovett Demetria A.
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- Lowry Stephen
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- Lu Lingfeng
- Lu Tao
- Lu Xiuhua
- Lu Yongxiang
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- Lu Yue
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- Lucas Susan
- Lucier Alice
- Lucier Raymond L.
- Ludeman Thom
- Lui Annie
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- Lv Gang
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- Machrus Migdad
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- MacLean Christine
- Madabhushi Ramki
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- Maheshwari Manjula
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- Mahnke Ryan
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- Maltbie Mary I.
- Mangum Brian
- Manning Jonathan
- Manohar Chitra
- Mapua Patricia
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- Marinelli Lisa
- Mark Graham A.
- Marquis-Homeyer Catherine
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- Marriott Neil
- Marrone Anne
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- Matthews Charles D.
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- Matthews Paul
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- Maunes Cynthia
- Maupin Rachel
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- Mihalkanin Danielle
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- Mullenger Ian
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- Ng Bee
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- Nguyen Natalie M.
- Nguyen Ngoc Bich
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- Norbu Nyima
- Nordsiek Gabriele
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- O\u27Donnell Paula
- O\u27Donovan Daniel
- O\u27Leary Sinead
- O\u27Loughlin Jennifer
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- Ren Shuangxi
- Ren Shuangxi
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- Ridler Kerry
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- Yang Hao
- Yang Huanming
- Yang Huanming
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- Yang Xiaonan
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- Yang Yongkui
- Yano Candance
- Yao Zhijian
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- Ye Chen
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- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
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- Zhang Bo
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- Zhang Guohua
- Zhang Guohua
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- Zhang Haiqing
- Zhang Haiqing
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- Zhang Hongbo
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- Zhang Jingjing
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- Zhang Wei
- Zhang Xianglin
- Zhang Xianglin
- Zhang Xiaoliang
- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
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The impact of PICALM genetic variations on reserve capacity of posterior cingulate in AD continuum
- Author
- Adeli Anahita
- Aisen Paul
- Albers Colleen S.
- Albert Marilyn
- Allard Joanne
- Ances Beau
- Anderson Karen
- Apostolova Liana
- Ashok Raj Balebail
- Assaly Michele
- Asthana Sanjay
- Bachman David
- Bartha Rob
- Bartzokis George
- Bates Vernice
- Beccera Mauricio
- Beckett Laurel
- Belden Christine M.
- Bell Karen L.
- Bergman Howard
- Bernick Charles
- Black Sandra
- Blank Karen
- Bonakdarpour Borna
- Borges-Neto Salvador
- Borrie Michael
- Brand Connie
- Brewer James
- Brockington John
- Brooks William M.
- Brosch Jared R.
- Brown Alice D.
- Budson Andrew E.
- Burke Anna
- Burns Jeffrey M.
- Caldwell Curtis
- Capote Horacio
- Carlsson Cynthia M.
- Carmichael Owen
- Carroll Maria
- Carson Richard E.
- Carter Raina
- Cellar Janet S.
- Celmins Dzintra
- Cerbone Brittany
- Chaing Gloria
- Chertkow Howard
- Chowdhury Munir
- Clark David
- Coleman Edward
- Conrad Gary
- Correia Stephen
- Creech Mary L.
- Dang Mimi
- de Leon Mony J.
- De Santi Susan
- DeCarli Charles
- deToledo-Morrell Leyla
- Dolen Sara
- Doody Rachelle S.
- Doraiswamy P. Murali
- Duara Ranjan
- D’Agostino Daniel
- Fargher Kristin
- Farlow Martin R.
- Fatica Parianne
- Feldman Howard
- Finger Elizabeth
- Flashman Laura A.
- Fleisher Adam
- Fletcher Evan
- Franklin Erin
- Galvin James E.
- Garg Pradeep
- Geldmacher David
- Glodzik Lidia
- Goldstein Bonnie S.
- Gordineer Leslie
- Graff-Radford Neill R.
- Green Robert C.
- Greig Maria T.
- Griffith Randall
- Grossman Hillel
- Hake Ann Marie
- Hardy Peter
- Heidebrink Judith L.
- Hernando Raymundo
- Herring Scott
- Honig Lawrence S.
- Hosein Chris
- Hunt Cynthia
- Hynes Mary L.
- Ismail M. Saleem
- Jack Clifford R.
- Jacobson Sandra A.
- Jagust William
- Jiang Teng
- Jicha Greg
- Johnson Heather
- Johnson Kathleen
- Johnson Keith A.
- Johnson Kris
- Johnson Nancy
- Johnson Sterling
- Kataki Maria
- Kaye Jeffrey
- Kendall Tracy
- Kertesz Andrew
- Kerwin Diana
- Kielb Stephanie
- Killiany Ronald
- Kittur Smita
- Knopman David
- Kowall Neil
- Lah James J.
- Lane Barton
- Lee T-Y
- Lerner Alan
- Levey Allan I.
- Lin Michael
- Lind Betty
- Lipowski Kristine
- Lord Joanne L.
- Lu Po H.
- Lynn Johnson Patricia
- MacAvoy Martha G.
- Maillard Pauline
- Makino Kelly M.
- Malloy Paul
- Marshall Gad
- Marson Daniel
- Martin Kim
- Mason Sara S.
- Mathews Dana
- Matthews Brandy R.
- Mc-Adams-Ortiz Catherine
- Mesulam Marek-Marsel
- Miao Dan
- Michel Christina A.
- Miller Bruce L.
- Mintun Mark A.
- Mintzer Jacobo
- Mitsis Effie
- Morris John
- Morris John C.
- Mudge Benita
- Mulnard Ruth A.
- Munic Donna
- Natelson Love Marissa
- Nguyen Dana
- Norbash Alexander
- Oates Elizabeth
- Obisesan Thomas O.
- Ogrocki Paula
- Olichney John
- Oliver Angela
- Onyike Chiadi
- Ott Brian R.
- Parfitt Francine
- Pasternack Stephen
- Pawluczyk Sonia
- Pearlson Godfrey D.
- Perry David
- Petersen Ronald
- Petrella Jeffrey R.
- Pogorelec Dana M.
- Pomara Nunzio
- Porsteinsson Anton P.
- Potkin Steven G.
- Preda Adrian
- Querfurth Henry
- Quiceno Mary
- Quinn Joseph
- Rachisky Irina
- Rainka Michelle
- Ravdin Lisa
- Reeder Stephanie
- Relkin Norman
- Reynolds Brigid
- Roberson Erik
- Roberts Peggy
- Robin Hsiung Ging-Yuek
- Rosen Allyson
- Rosen Howard J.
- Rountree Susan
- Rusinek Henry
- Sabbagh Marwan N.
- Sadowsky Carl
- Salloway Stephen
- Santulli Robert B.
- Sarrael Antero
- Saykin Andrew J.
- Scharre Douglas W
- Schneider Lon S.
- Schneider Stacy
- Scott Turner Raymond
- Seltzer Marc
- Shah Raj C.
- Shaw Leslie M.
- Silbert Lisa
- Silverman Daniel H.S.
- Sinha Partha
- Sink Kaycee M.
- Sirrel Sherye A.
- Smith Amanda
- Smith Charles D.
- Spann Bryan M.
- Sperling Reisa A.
- Spicer Kenneth
- Stefanovic Bojana
- Stern Yaakov
- Swerdlow Russell H.
- Tan Chen-Chen
- Tan Lan
- Tan Lin
- Tan Meng-Shan
- Tariot Pierre
- Tatsuoka Curtis
- Taylor Joy L.
- Teodoro Liberty
- Thai Gaby
- Tingus Kathleen
- Tinklenberg Jared
- Toga Arthur W.
- Tremont Geoffrey
- Trncic Nadira
- Trojanowki John Q.
- Trost Dick
- van Dyck Christopher H.
- Vanderswag Helen
- Varma Pradeep
- Varon Daniel
- Villanueva-Meyer Javier
- Villena Teresa
- Wang Hui-Fu
- Watkins Franklin
- Weiner Michael W.
- Weintraub Sandra
- Williamson Jeff D.
- Wolday Saba
- Womack Kyle
- Wong Terence Z.
- Woo Ellen
- Wu Chuang-Kuo
- Xu Wei
- Yesavage Jerome
- Yu Jin-Tai
- Yu Wan-Jiang
- Zhu Xi-Chen
- Zimmerman Earl A.
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 02/05/2016
- Field of study
Phosphatidylinositolbinding clathrin assembly protein (PICALM) gene is one novel genetic player associated with late-onset Alzheimer’s disease (LOAD), based on recent genome wide association studies (GWAS). However, how it affects AD occurrence is still unknown. Brain reserve hypothesis highlights the tolerant capacities of brain as a passive means to fight against neurodegenerations. Here, we took the baseline volume and/or thickness of LOAD-associated brain regions as proxies of brain reserve capacities and investigated whether PICALM genetic variations can influence the baseline reserve capacities and the longitudinal atrophy rate of these specific regions using data from Alzheimer’s Disease Neuroimaging Initiative (ADNI) dataset. In mixed population, we found that brain region significantly affected by PICALM genetic variations was majorly restricted to posterior cingulate. In sub-population analysis, we found that one PICALM variation (C allele of rs642949) was associated with larger baseline thickness of posterior cingulate in health. We found seven variations in health and two variations (rs543293 and rs592297) in individuals with mild cognitive impairment were associated with slower atrophy rate of posterior cingulate. Our study provided preliminary evidences supporting that PICALM variations render protections by facilitating reserve capacities of posterior cingulate in non-demented elderly
Multiorgan MRI findings after hospitalisation with COVID-19 in the UK (C-MORE): a prospective, multicentre, observational cohort study
- Author
- Abel K
- Adamali H.
- Adeloye D
- Adeyemi Oluwaseun
- Adrego Rita
- Aguilar Jimenez Laura A.
- Ahmad Haider N
- Ahmad Shanaz
- Ahmed R
- Ahwireng Nyarko
- Ainsworth Mark
- Al-Sheklly B.
- Alamoudi Asma
- Alfaro-Almagro Fidel
- Ali Mariam
- Aljaroof M
- Allan L
- Allen R J
- Allerton Lisa
- Allsop Lynne
- Allt Ann Marie
- Almeida Paula
- Altmann Danny
- Alvarez Corral Maria
- Amoils S.
- Anderson David
- Antoniades C
- Arbane Gill
- Arias Ava Maria
- Armour C.
- Armstrong Lisa
- Armstrong Natalie
- Arnold David
- Arnold H
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- Zawia Amira
- Zeidan Lisa
- Zhao Bang
- Zheng Bang
- Zongo O.
- Publication venue
- Elsevier
- Publication date
- 22/09/2023
- Field of study
Introduction:
The multiorgan impact of moderate to severe coronavirus infections in the post-acute phase is still poorly understood. We aimed to evaluate the excess burden of multiorgan abnormalities after hospitalisation with COVID-19, evaluate their determinants, and explore associations with patient-related outcome measures.
Methods:
In a prospective, UK-wide, multicentre MRI follow-up study (C-MORE), adults (aged ≥18 years) discharged from hospital following COVID-19 who were included in Tier 2 of the Post-hospitalisation COVID-19 study (PHOSP-COVID) and contemporary controls with no evidence of previous COVID-19 (SARS-CoV-2 nucleocapsid antibody negative) underwent multiorgan MRI (lungs, heart, brain, liver, and kidneys) with quantitative and qualitative assessment of images and clinical adjudication when relevant. Individuals with end-stage renal failure or contraindications to MRI were excluded. Participants also underwent detailed recording of symptoms, and physiological and biochemical tests. The primary outcome was the excess burden of multiorgan abnormalities (two or more organs) relative to controls, with further adjustments for potential confounders. The C-MORE study is ongoing and is registered with ClinicalTrials.gov, NCT04510025.
Findings:
Of 2710 participants in Tier 2 of PHOSP-COVID, 531 were recruited across 13 UK-wide C-MORE sites. After exclusions, 259 C-MORE patients (mean age 57 years [SD 12]; 158 [61%] male and 101 [39%] female) who were discharged from hospital with PCR-confirmed or clinically diagnosed COVID-19 between March 1, 2020, and Nov 1, 2021, and 52 non-COVID-19 controls from the community (mean age 49 years [SD 14]; 30 [58%] male and 22 [42%] female) were included in the analysis. Patients were assessed at a median of 5·0 months (IQR 4·2–6·3) after hospital discharge. Compared with non-COVID-19 controls, patients were older, living with more obesity, and had more comorbidities. Multiorgan abnormalities on MRI were more frequent in patients than in controls (157 [61%] of 259 vs 14 [27%] of 52; p<0·0001) and independently associated with COVID-19 status (odds ratio [OR] 2·9 [95% CI 1·5–5·8]; padjusted=0·0023) after adjusting for relevant confounders. Compared with controls, patients were more likely to have MRI evidence of lung abnormalities (p=0·0001; parenchymal abnormalities), brain abnormalities (p<0·0001; more white matter hyperintensities and regional brain volume reduction), and kidney abnormalities (p=0·014; lower medullary T1 and loss of corticomedullary differentiation), whereas cardiac and liver MRI abnormalities were similar between patients and controls. Patients with multiorgan abnormalities were older (difference in mean age 7 years [95% CI 4–10]; mean age of 59·8 years [SD 11·7] with multiorgan abnormalities vs mean age of 52·8 years [11·9] without multiorgan abnormalities; p<0·0001), more likely to have three or more comorbidities (OR 2·47 [1·32–4·82]; padjusted=0·0059), and more likely to have a more severe acute infection (acute CRP >5mg/L, OR 3·55 [1·23–11·88]; padjusted=0·025) than those without multiorgan abnormalities. Presence of lung MRI abnormalities was associated with a two-fold higher risk of chest tightness, and multiorgan MRI abnormalities were associated with severe and very severe persistent physical and mental health impairment (PHOSP-COVID symptom clusters) after hospitalisation.
Interpretation:
After hospitalisation for COVID-19, people are at risk of multiorgan abnormalities in the medium term. Our findings emphasise the need for proactive multidisciplinary care pathways, with the potential for imaging to guide surveillance frequency and therapeutic stratification
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
- Alexander Claviez
- Alexander J Lazar
- Alexander Martinez-Fundichely
- Alfonso Muñoz
- Alfonso Valencia
- Aliaksei Z Holik
- Alice Meng
- Alicia L Bruzos
- Allison Creason
- Allison P Heath
- Alvin Wei Tian Ng
- Alvis Brazma
- Amaro Taylor-Weiner
- Amber L Johns
- Amie Radenbaugh
- Amit G Deshwar
- Ana Dueso-Barroso
- Ana Mijalkovic Mijalkovic-Lazic
- Ana Milovanovic
- Ana Milovanovic
- Andre Kahles
- Andrea Haake
- Andrea Holbrook
- Andrea L Richardson
- Andrea Mafficini
- Andrea Ruzzenente
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- Yeng Ang
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- 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
The evolving SARS-CoV-2 epidemic in Africa: Insights from rapidly expanding genomic surveillance
- Author
- Aanniz Tarek
- Abar Aden Elmi
- Abbad Anass
- Abdelfattah May
- Abdelhamid W.
- Abdella Saro
- Abdellah Faouzi
- Abdelmjid El Oualid
- Abdelmoula Fatma
- Abdelmoulah F.
- Abderrahmane Maaroufi
- Abderrazak Rfaki
- Abdillahi Idil Salah
- Abdissa Alemseged
- Abdo I.
- Abdoelraheem Mohamed Hassan
- Abe Haruka
- Abebe Markos
- Abechi Priscilla
- Abera Adugna
- Abi Rachid
- Abias Abe G.
- Abichu Getachew
- Abid N.
- Abid Nabil
- Abid Salma
- Abilio Nuro
- Abimbola Sharon
- Abo Shama Noura M
- Abosede O.
- Aboubaker Mohamed Houmed
- Abouelhoda Mohamed
- Abouelnaga S.
- Abualas Elamin
- Abubeker Ramalia Chabi
- Abuelenein Ehab Abdelkader
- Abuzaid Nadir
- Abworo Edward O.
- Ada Diosdado Odjama Nseng
- Addidle Michael
- Adegbola Richard
- Adegnika Akim A.
- Adegnika Ayola Akim
- Adel Abd Monaem
- Adeniji Johnson A.
- Adepetun Tomiwa
- Adesegun A.
- Adesuyi Omoare
- Adetifa Ifedayo M. O.
- Adewumi Olubusuyi M.
- Adewumi Oluwatimilehin
- Adewumi Praise
- Adeyemi Kayode T.
- Adhikari Bishwo N.
- Adil El Hamouchi
- Adjiratou Aissatou B. A.
- Adnew Bethlehem
- Adu Bright
- Adu Eric
- Adusei-Poku Mildred
- Agbenyo Seyram Bless
- Agbodzi B.
- Ageez A.M.
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- Aguenaou Hassan
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- Agweyu Ambrose
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- Ahmed Rahma
- Ahmed Shymaa S.
- Ahmed Side Mohamed
- Ahmed Yahaya Ali
- Ahouidi Ambroise
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- Ahumibe Anthony
- Ahyong Vida
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- Ajibaye Solomon
- Ajili F.
- Ajogbasile F.V.
- Ajogbasile Fehintola V.
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- Gouider Riadh
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- Grantz Kyra
- Grayo Solène
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- Siegfried Nandi
- Sigei Faith
- Sijuwola Ayotunde E.
- Sikkema Reina
- Silander Olin
- Siliadin Akoele
- Silochi Nelson Boricó
- Simbi Rajiha
- Simon-Loriere Etienne
- Simons Lacy M.
- Simulundu Edgar
- Singh Lavanya
- Sinyange N.
- Sisay Abay
- Sitharam Nikita
- Sitoe Nadia
- Sivro Aida
- Skarwan Emilio
- Skidmore Peter T.
- Smeti Ibtihel
- Smit Erasmus
- Smith-Lawrence Pamela
- Smyej Imane
- Soara Nabila
- Sobajo Tope
- Soglo Philip M.
- Sogodogo Heitzer
- Sogodogo Sokhna
- Sokei Judith
- Sokhna Cheikh
- Soliman Hany K.
- Soliman May Sherif
- Soliman Shaimaa
- Somboro Anou M.
- Somé Arsène
- Sonoo Janaki
- Sorie Foday Sahr Samuel
- Sorie Samuel
- Sosedova E.A.
- Souiri Amal
- Souissi Amal
- Souma Zein
- Soumah Abdoul Karim
- Souopgui Jacob
- Sourakatou Salifou
- Sow Abdourahmane
- Sow Mamadou Saliou
- Ssemwanga Deogratius
- Ssewanyana Isaac
- Ssuuna Charles
- Stambouli Nejla
- Stander Tania
- Stange Madlen
- Stanley Sarah
- Stefanov Emily K.
- Stoecker Kilian
- Storey Matt
- Strydom Amy
- Subramoney Kathleen
- Sujeewon C.
- SULAIMAN Mariam Kehinde
- Sule Waidi
- Sun Fengming
- Swanson Kena
- Sylvanus Okogbenin
- Sylverken Augustina A.
- Symeker S.L.
- Symekher Samwel Lifumo
- Tagajdid Rida
- Taha A.G.
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- Takawira Tatenda
- Takou Desire
- Taloa K.A.
- Tamfum Jean-Jacques M.
- Tan M.
- Tan Michelle
- Tarnagda Zekiba
- Tarupiwa Andrew
- Tatfeng Mirabeau Y.
- Tato C.
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- Taweh Fahn M.
- Tayachew Adamu
- Tayimetha Carolle Yanique
- Taylor Susan
- Tchibozo Carine
- Tchoudjin Herve Christian Paho
- Tebeje Yenew K.
- Tefelo Thela
- Tefera D.A.
- Tefera Dessalegn Abeje
- Tegally Houriiyah
- Tegomoh Bryan
- Tegueni Kokou
- Tei-Maya
- Teka Gizaw
- Tembo John
- Tesfaye Abraham
- Tesfaye Gelanew
- Tesfaye Kassahun
- Tessema Sofonias K.
- Testimony Olumade
- Thiam Aminata Sileymane
- Thilliez Gaetan
- Thiongo K.
- Thomas Van L.
- Tia Alie
- Tinto Halidou
- Tollera Getachew
- Tombolomako T. B.
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- Tomori Oyewale
- Tongo Marcel
- Top Ndeye Marieme
- Tordo Noël
- Toure Abdoulaye
- Touré Bamba Fatoumata
- Touzani Charifa Drissi
- Touzani Otmane
- Trabelsi Sameh
- Traoré
- Traoré Adjaratou
- Treurnicht Florette
- Triki H.
- Triki Henda
- Trotter Alexander J.
- Tsegay Yao
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- Tsiry R.
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- Tuki Keyru
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- Ulrich M.
- Umumararungu Esperance
- Umuringa Jeanne d’Arc
- Upton Arlo
- Ushijima Yuri
- Ussher James
- Utpatel Christian
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- Vernet Marie-Astrid
- Viana R.
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- Victoir Kathleen
- Vida Ahyong
- Vidal Nicole
- Viegas Sofia
- Vincent Grace
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- Waberi Zeinab Ali
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- Wang Jing
- Wang Xiuhua
- Wani Gregory
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- Wayengera Misaki
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- Webby R.
- Webby Richard
- Weldemariam A.G.
- Weldemariam Atsbeha G.
- Werno Anja
- Wiley Michael R.
- Wilkinson David
- Wilkinson Eduan
- Williamson Carolyn
- Wilson Shannon
- Woelfel R.
- Wohl Shirlee
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- Wolter Nicole
- Wuduri Zara
- Wulf Ben
- Wurie I.
- Wurie Isatta
- Xavier Joicymara S.
- Xiang Zuzheng
- Xie Hong
- Yadouleton Anges
- Yadouleton Yahya
- Yakout Mostfa
- Yandoko Rivalyn Nakoune
- Yang Qi
- Yao Kouadio T.
- Yassine Kasmi
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- Yatassaye Bouna
- Yeboah C.
- Yeboah Richmond
- Yeboah-Manu Dorothy
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- Yu Popova A.
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- Yusuf Yacob Mohamed
- Zablon J. Matoke D.
- Zablon J.O.
- Zaher Tarek Refaat Elnagdy Raafat
- Zahra El Ansari Fatima
- Zahran Manal Hamdy
- Zekri Abdel-Rahman N.
- Zhang J.
- Zhou Pei
- Zinyowera Sekesai
- Zong Minko O.
- Zongo Arsène
- Zorgani A.
- Zouaki Amal
- Zulu P.
- Zumla Ali
- Zumla Alimuddin
- Zuze Boitumelo
- Publication venue
- 'American Association for the Advancement of Science (AAAS)'
- Publication date
- 07/10/2022
- Field of study
INTRODUCTION
Investment in Africa over the past year with regard to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing has led to a massive increase in the number of sequences, which, to date, exceeds 100,000 sequences generated to track the pandemic on the continent. These sequences have profoundly affected how public health officials in Africa have navigated the COVID-19 pandemic.
RATIONALE
We demonstrate how the first 100,000 SARS-CoV-2 sequences from Africa have helped monitor the epidemic on the continent, how genomic surveillance expanded over the course of the pandemic, and how we adapted our sequencing methods to deal with an evolving virus. Finally, we also examine how viral lineages have spread across the continent in a phylogeographic framework to gain insights into the underlying temporal and spatial transmission dynamics for several variants of concern (VOCs).
RESULTS
Our results indicate that the number of countries in Africa that can sequence the virus within their own borders is growing and that this is coupled with a shorter turnaround time from the time of sampling to sequence submission. Ongoing evolution necessitated the continual updating of primer sets, and, as a result, eight primer sets were designed in tandem with viral evolution and used to ensure effective sequencing of the virus. The pandemic unfolded through multiple waves of infection that were each driven by distinct genetic lineages, with B.1-like ancestral strains associated with the first pandemic wave of infections in 2020. Successive waves on the continent were fueled by different VOCs, with Alpha and Beta cocirculating in distinct spatial patterns during the second wave and Delta and Omicron affecting the whole continent during the third and fourth waves, respectively. Phylogeographic reconstruction points toward distinct differences in viral importation and exportation patterns associated with the Alpha, Beta, Delta, and Omicron variants and subvariants, when considering both Africa versus the rest of the world and viral dissemination within the continent. Our epidemiological and phylogenetic inferences therefore underscore the heterogeneous nature of the pandemic on the continent and highlight key insights and challenges, for instance, recognizing the limitations of low testing proportions. We also highlight the early warning capacity that genomic surveillance in Africa has had for the rest of the world with the detection of new lineages and variants, the most recent being the characterization of various Omicron subvariants.
CONCLUSION
Sustained investment for diagnostics and genomic surveillance in Africa is needed as the virus continues to evolve. This is important not only to help combat SARS-CoV-2 on the continent but also because it can be used as a platform to help address the many emerging and reemerging infectious disease threats in Africa. In particular, capacity building for local sequencing within countries or within the continent should be prioritized because this is generally associated with shorter turnaround times, providing the most benefit to local public health authorities tasked with pandemic response and mitigation and allowing for the fastest reaction to localized outbreaks. These investments are crucial for pandemic preparedness and response and will serve the health of the continent well into the 21st century
The utility of an instrumented pull test to evaluate postural instability in Parkinson’s disease
- Author
- Publication venue
- Publication date
- 01/01/2019
- Field of study
© 2019 Joy Lynn TanPostural instability is one of the cardinal symptoms of Parkinson’s disease (PD). Postural instability can present on diagnosis, and commonly becomes more prominent with disease progression, resulting in subsequent falls and diminished quality of life. The treatment of postural instability is challenging, as it is often refractory to management with levodopa and deep brain stimulation of conventional targets such as the subthalamic nucleus. To assess postural instability, the most commonly used measure in the clinical setting is the pull test according to item 30 of the Unified Parkinson’s disease rating scale (UPDRS), where an examiner performs a brisk backward tug at the patient’s shoulder level and grades the corrective response. While easy to administer, outcomes can vary due to variability in test administration and interpretation.
A comprehensive literature review revealed laboratory based assessments provided a more objective method to measure postural responses compared to clinical assessments in people with PD. These techniques were conventionally employed in people with PD in later disease stages who already demonstrate postural instability. Laboratory based assessments presented a method to identify abnormalities before postural instability is clinically evident and effects of therapies. The recent development of instrumentation of clinical balance tests offered an alternative technique to precisely quantify postural responses. Here, we developed an instrumented version of the pull test and investigate its utility to quantify postural instability in people with PD ranging from mild to moderate disease severity.
In Study 1, the sensitivity of the instrumented pull test was investigated in healthy young participants. Postural responses were modified by presenting a startling auditory stimulus concurrent with the backwards pull. Such stimuli evoke StartReact effects and are known to speed reaction times. The instrumented pull test could detect small 10 ms decreases in postural reaction time evoked by the startling stimulus. The ability to detect such changes in healthy individuals highlights the utility of instrumented techniques and justifies further investigation in people where changes to balance is of interest.
Subsequently, the instrumented pull test was used to characterise postural responses in eighteen people with mild PD (Hoehn and Yahr less than 2) in Study 2. Subclinical abnormalities in trunk and step responses were detected in participants with mild PD compared to healthy controls. Furthermore, levodopa did not restore postural responses in participants with PD to that of healthy controls (Study 3). These findings demonstrate changes to postural stability can occur in mild disease. Abnormalities of postural responses which remain refractory to levodopa also suggest non-dopaminergic pathways may be implicated in the pathophysiology of postural instability in mild PD.
Pedunculopontine deep brain stimulation (PPN DBS) is a therapy developed specifically to alleviate axial symptoms of gait and postural abnormalities unresponsive to conventional therapies such as levodopa. In Study 4, the instrumented pull test was used to quantify postural responses in five people with PD and moderate to severe postural instability receiving PPN DBS. Off and on stimulation, the instrumented pull test was able to detect postural responses with greater resolution compared to clinical assessments (axial items 27 to 30 of the motor subsection of the Unified Parkinson’s disease rating scale (UPDRS) and the Mini-BESTest. However, the use of the instrumented pull test, and interpretation of findings was limited by the small sample size and highly variable postural responses in participants with moderate to severe postural instability. On stimulation, improvement in overall balance scores was demonstrated across all participants with the Mini-BESTest but not axial items of the UPDRS.
This thesis demonstrated the utility of the instrumented pull test as a potential assessment tool to evaluate postural instability in PD. Identification of postural abnormalities provides valuable insights in the assessment and management of postural instability in people with PD. Clinicians should consider that subclinical postural abnormalities can be present in people with mild PD, even when patients are on levodopa. Findings from this thesis strongly support the need for further studies to explore variables of postural responses that may be useful to detect people with PD at risk of falls and for clinicians to deliver targeted interventions earlier in disease course
Neurophysiological analysis of the clinical pull test
- Author
- Publication venue
- 'American Physiological Society'
- Publication date
- Field of study