74 research outputs found
Parallel Deterministic and Stochastic Global Minimization of Functions with Very Many Minima
- Publication venue
- Publication date
- 01/01/2011
- Field of study
The optimization of three problems with high dimensionality and many local minima are investigated
under five different optimization algorithms: DIRECT, simulated annealing, Spall’s SPSA algorithm, the KNITRO
package, and QNSTOP, a new algorithm developed at Indiana University
An embedding technique to determine ττ backgrounds in proton-proton collision data
- Author
- Aarrestad Thea Klaeboe
- Abbaneo Duccio
- Abbiendi Giovanni
- Abbrescia Marcello
- Abdullin Salavat
- Abdulsalam Abdulla
- Abercrombie Daniel
- Acharya Himal
- Ackert Andrew
- Acosta Darin
- Acosta John Gabriel
- Adam Wolfgang
- Adams Mark Raymond
- Adams Todd
- Adzic Petar
- Afanasiev Serguei
- Agapitos Antonis
- Agaras Merve Nazlim
- Aggleton Robin
- Agram Jean-Laurent
- Ahmad Ashfaq
- Ahmad Muhammad, 1
- Ahmad Muhammad, 2
- Ahuja Sudha
- Akbiyik Melike
- Akchurin Nural
- Akgun Bora
- Al-bataineh Ayman
- Albajar Carmen
- Albergo Sebastiano
- Albert Andreas
- Albrow Michael
- Alcaraz Maestre Juan
- Aldaya Martin Maria
- Aleksandrov Aleksandar
- Alexander James
- Alhusseini Mohammad
- Alimena Juliette
- Allen Brandon
- Almond John
- Alverson George
- Alves Fábio Lúcio
- Alves Gilvan
- Alyari Maral
- Amapane Nicola
- Ambrogi Federico
- Amendola Chiara
- Amin Nick
- Amsler Claude
- Anagnostou Georgios
- Anderson Dustin
- Andrea Jeremy
- Andreev Vladimir
- Andreev Yuri
- Andrews Michael Benjamin
- Androsov Konstantin
- Antonelli Louis
- Antropov Iurii
- Antunovic Zeljko
- Apanasevich Leonard
- Apollinari Giorgio
- Apresyan Artur
- Apyan Aram
- Araujo Mariana
- Arcaro Daniel
- Arcidiacono Roberta
- Arenton Michael Wayne
- Argiro Stefano
- Arndt Till
- Arneodo Michele
- Asavapibhop Burin
- Asawatangtrakuldee Chayanit
- Asghar Muhammad Irfan
- Asilar Ece
- Askew Andrew
- Atakisi Ismail Okan
- Ather Mohsan Waseem
- Attikis Alexandros
- Auffray Etiennette
- Aushev Tagir
- Autermann Christian
- Auzinger Georg
- Avdeeva Ekaterina
- Avery Paul
- Avila Carlos
- Ayala Edy
- Azarkin Maksim
- Azhgirey Igor
- Aziz Tariq
- Azzi Patrizia
- Azzolini Virginia
- Azzurri Paolo
- Baarmand Marc M
- Babaev Anton
- Babounikau Illia
- Bacchetta Nicola
- Bachiller Irene
- Bachtis Michail
- Backhaus Malte
- Baden Drew
- Bagliesi Giuseppe
- Bahinipati Seema
- Baidali Sergei
- Baillon Paul
- Bainbridge Robert
- Bakas Georgios
- Bakhshiansohi Hamed
- Bakirci Mustafa Numan
- Ball Austin
- Ball Fionn
- Ban Yong
- Band Reyer
- Banerjee Sudeshna
- Banerjee Sunanda
- Bansal Sunil
- Barbagli Giuseppe
- Barberis Emanuela
- Bargassa Pedrame
- Baringer Philip
- Barker Anthony
- Barnes Virgil E
- Barney David
- Barnyakov Alexander
- Baron Owen
- Barone Luciano
- Barria Patrizia
- Barrio Luna Mar
- Bartek Rachel
- Barth Christian
- Bartosik Nazar
- Bartók Márton
- Baselga Marta
- Bat Ayse
- Battilana Carlo
- Baty Austin
- Bauerdick Lothar AT
- Baur Sebastian
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- Beauceron Stephanie
- Beaudette Florian
- Bechtel Janek
- Beernaert Kelly
- Beghin Diego
- Behera Prafulla Kumar
- Behnke Olaf
- Behrens Ulf
- Bein Samuel
- Beirão Da Cruz E Silva Cristóvão
- Belchior Batista Das Chagas Ewerton
- Belforte Stefano
- Bell Ken W
- Bellan Riccardo
- Belloni Alberto
- Belyaev Alexander
- Belyaev Andrey
- Benaglia Andrea
- Benato Lisa
- Bencze Gyorgy
- Bendavid Joshua
- Benecke Anna
- Benelli Gabriele
- Beni Noemi
- Benitez Jose F
- Benussi Luigi
- Benvenuti Alberto
- Beretvas Andrew
- Bergauer Thomas
- Berger Pirmin
- Beri Suman Bala
- Bermúdez Martínez Armando
- Bernardes Cesar Augusto
- Bernet Colin
- Berry Douglas
- Berryhill Jeffrey
- Bertsche David
- Besancon Marc
- Beschi Andrea
- Betts Russell Richard
- Bhandari Rohan
- Bhardwaj Ashutosh
- Bhardwaj Rishika
- Bharti Monika
- Bhat Muzamil Ahmad
- Bhat Pushpalatha C
- Bhatnagar Vipin
- Bhattacharya Rajarshi
- Bhattacharya Saptaparna
- Bhattacharya Satyaki
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- Bhawandeep Bhawandeep
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- Bloch Philippe
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- Botta Valeria
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- Bouhali Othmane
- Bourgatte Guillaume
- Bourilkov Dimitri
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- Bowen James
- Bragagnolo Alberto
- Braghieri Alessandro
- Braibant-Giacomelli Sylvie
- Brainerd Christopher
- Brandstetter Johannes
- Brandt Stephanie
- Branson James G
- Bravo Cameron
- Breedon Richard
- Breeze Shane
- Brew Christopher
- Brigljevic Vuko
- Brinkerhoff Andrew
- Brivio Francesco
- Brochero Cifuentes Javier Andres
- Brom Jean-Marie
- Brommer S.
- Brondolin Erica
- Brooke James John
- Brown Robert M
- Brun Hugues
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- Choudhary Brajesh C
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- Re Valerio
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- Sirois Yves
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- Sirunyan Albert M
- Skatchkov Nikolai
- Skinnari Louise
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- Smirnov Vitaly
- Smith Caleb
- Smith Dominic
- Smith Geoffrey
- Smith Nicholas
- Smith Vincent J
- Smith Wesley H
- Snow Gregory R
- Snyder Christina
- Sobol Andrei
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- Solano Ada
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- Spagnolo Paolo
- Spalding William J
- Spanier Stefan
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- Tomalin Ian R
- Tomei Thiago
- Toms Maria
- Tonelli Manganote Edmilson José
- Tonelli Guido
- Tonjes Marguerite
- Tonon Nicolas
- Tonwar Suresh C
- Topakli Huseyin
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- Toropin Alexander
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- Tos Kyle
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- Treille Daniel
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- Wang Zhixing
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- Yetkin Elif Asli
- Yohay Rachel
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- Yuan Li
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- Yusli Mohd Nizam
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- Zaganidis Nicolas
- Zahid Sema
- Zaleski Shawn
- Zalewski Piotr
- Zanetti Anna
- Zanetti Marco
- Zarubin Anatoli
- Zarucki Mateusz
- Zeinali Maryam
- Zenaiev Oleksandr
- Zenz Seth Conrad
- Zeuner Wolfram Dietrich
- Zevi Della Porta Giovanni
- Zeyrek Mehmet
- Zghiche Amina
- Zhang Aobo
- Zhang Fengwangdong
- Zhang Huaqiao
- Zhang Jingyu
- Zhang Sijing
- Zhang Zhicai
- Zhao Jingzhou
- Zhokin Alexander
- Zhu De Hua
- Zhu Ren-Yuan
- Zientek Margaret
- Zobec Joze
- Zoi Irene
- Zolkapli Zukhaimira
- Zorbakir Ibrahim Soner
- Zorbilmez Caglar
- Zotto Pierluigi
- Zou David
- Zucchetta Alberto
- Zumerle Gianni
- Zuo Xunwu
- Zuolo Davide
- Álvarez Fernández Adrian
- Özçelik Özlem
- Publication venue
- Publication date
- 01/01/2019
- Field of study
An embedding technique is presented to estimate standard model tau tau backgrounds from data with minimal simulation input. In the data, the muons are removed from reconstructed mu mu events and replaced with simulated tau leptons with the same kinematic properties. In this way, a set of hybrid events is obtained that does not rely on simulation except for the decay of the tau leptons. The challenges in describing the underlying event or the production of associated jets in the simulation are avoided. The technique described in this paper was developed for CMS. Its validation and the inherent uncertainties are also discussed. The demonstration of the performance of the technique is based on a sample of proton-proton collisions collected by CMS in 2017 at root s = 13 TeV corresponding to an integrated luminosity of 41.5 fb(-1).Peer reviewe
Measurement of nuclear modification factors of gamma(1S)), gamma(2S), and gamma(3S) mesons in PbPb collisions at root s(NN)=5.02 TeV
- Author
- Aarrestad Thea Klaeboe
- Abbaneo Duccio
- Abbiendi Giovanni
- Abbrescia Marcello
- Abdullin Salavat
- Abdulsalam Abdulla
- Abercrombie Daniel
- Abu Zeid Shimaa
- Ackert Andrew
- Acosta Darin
- Acosta John Gabriel
- Adam Wolfgang
- Adams Mark Raymond
- Adams Todd
- Adzic Petar
- Agapitos Antonis
- Agaras Merve Nazlim
- Aggleton Robin
- Agram Jean-Laurent
- Ahmad Ashfaq
- Ahmad Muhammad
- Ahmad Muhammad
- Ahmed Ijaz
- Ahuja Sudha
- Akbiyik Melike
- Akchurin Nural
- Akgun Bora
- Al-bataineh Ayman
- Albajar Carmen
- Albergo Sebastiano
- Albert Andreas
- Albrow Michael
- Alcaraz Maestre Juan
- Aldaya Martin Maria
- Aldá Júnior Walter Luiz
- Aleksandrov Aleksandar
- Alexander James
- Alimena Juliette
- Allen Brandon
- Almond John
- Alunni Solestizi Luisa
- Alverson George
- Alves Fábio Lúcio
- Alves Gilvan
- Alyari Maral
- Amapane Nicola
- Ambrogi Federico
- Amendola Chiara
- Amin Nick
- Amsler Claude
- Anagnostou Georgios
- Anderson Dustin
- Andrea Jeremy
- Andreev Vladimir
- Andreev Yuri
- Andrews Michael Benjamin
- Androsov Konstantin
- Antonelli Louis
- Antropov Iurii
- Antunovic Zeljko
- Apanasevich Leonard
- Apollinari Giorgio
- Apresyan Artur
- Apyan Aram
- Arcaro Daniel
- Arcidiacono Roberta
- Arenton Michael Wayne
- Argiro Stefano
- Arndt Till
- Arneodo Michele
- Asavapibhop Burin
- Asawatangtrakuldee Chayanit
- Asilar Ece
- Askew Andrew
- Atay Serhat
- Ather Mohsan Waseem
- Attikis Alexandros
- Auffray Etiennette
- Aushev Tagir
- Autermann Christian
- Auzinger Georg
- Avdeeva Ekaterina
- Avery Paul
- Avetisyan Aram
- Avila Carlos
- Azarkin Maksim
- Azhgirey Igor
- Aziz Tariq
- Azzi Patrizia
- Azzolini Virginia
- Azzurri Paolo
- Baarmand Marc M
- Babaev Anton
- Bacchetta Nicola
- Bachiller Irene
- Bachtis Michail
- Backhaus Malte
- Baden Drew
- Baffioni Stephanie
- Baginyan Andrey
- Bagliesi Giuseppe
- Bahinipati Seema
- Baillon Paul
- Bainbridge Robert
- Bakhshiansohi Hamed
- Bakirci Mustafa Numan
- Ball Austin
- Ball Fionn
- Ban Yong
- Band Reyer
- Banerjee Sudeshna
- Banerjee Sunanda
- Bansal Sunil
- Barbagli Giuseppe
- Barberis Emanuela
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- Bargassa Pedrame
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- Barker Anthony
- Barnes Virgil E
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- Bartek Rachel
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- Bartók Márton
- Baselga Marta
- Baskakov Alexey
- Bat Ayse
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- Bauerdick Lothar AT
- Baur Sebastian
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- Beck Lana
- Beernaert Kelly
- Beghin Diego
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- Behnke Olaf
- Behrens Ulf
- Bein Samuel
- Beirão Da Cruz E Silva Cristóvão
- Belchior Batista Das Chagas Ewerton
- Belforte Stefano
- Bellan Riccardo
- Belloni Alberto
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- Belyaev Andrey
- Benaglia Andrea
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- Bencze Gyorgy
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- Benelli Gabriele
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- Bhat Pushpalatha C
- Bhatnagar Vipin
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- Bhawandeep Bhawandeep
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- Brandt Stephanie
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- Brochero Cifuentes Javier Andres
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- Brodski Michael
- Brom Jean-Marie
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- Brooke James John
- Brown Robert M
- Brun Hugues
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- Chen Geng
- Chen Guo-Ming
- Chen He-Sheng
- Chen Kai-Feng
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- Chierici Roberto
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- Choudhary Brajesh C
- Choudhury Somnath
- Chu Jennifer
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- Ciulli Vitaliano
- Civinini Carlo
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- Couderc Fabrice
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- De Mattia Marco
- De Moraes Gregores Eduardo
- De Palma Mauro
- De Roeck Albert
- de Trocóniz Jorge F
- De Visscher Simon
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- Deelen Nikkie
- Degano Alessandro
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- Delannoy Andrés G
- Delannoy Hugo
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- Delgado Andrea
- Dell'Orso Roberto
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- Zeyrek Mehmet
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- Zientek Margaret
- Zito Giuseppe
- Zobec Joze
- Zolkapli Zukhaimira
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- Zorbilmez Caglar
- Zotto Pierluigi
- Zou David
- Zucchetta Alberto
- Zumerle Gianni
- Álvarez Fernández Adrian
- Publication venue
- Publication date
- 01/01/2018
- Field of study
The cross sections for ϒ(1S), ϒ(2S), and ϒ(3S) production in lead-lead (PbPb) and proton-proton (pp) collisions at √sNN = 5.02 TeV have been measured using the CMS detector at the LHC. The nuclear modification factors, RAA, derived from the PbPb-to-pp ratio of yields for each state, are studied as functions of meson rapidity and transverse momentum, as well as PbPb collision centrality. The yields of all three states are found to be significantly suppressed, and compatible with a sequential ordering of the suppression, RAA(ϒ(1S)) > RAA(ϒ(2S)) > RAA(ϒ(3S)). The suppression of ϒ(1S) is larger than that seen at √sNN = 2.76 TeV, although the two are compatible within uncertainties. The upper limit on the RAA of ϒ(3S) integrated over pT, rapidity and centrality is 0.096 at 95% confidence level, which is the strongest suppression observed for a quarkonium state in heavy ion collisions to date. © 2019 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/). Funded by SCOAP3.Peer reviewe
Azimuthal separation in nearly back-to-back jet topologies in inclusive 2-and 3-jet events in pp collisions at root s=13TeV
- Author
- Aarrestad Thea Klaeboe
- Abbaneo Duccio
- Abbiendi Giovanni
- Abbrescia Marcello
- Abdullin Salavat
- Abdulsalam Abdulla
- Abercrombie Daniel
- Abu Zeid Shimaa
- Ackert Andrew
- Acosta Darin
- Acosta John Gabriel
- Adam Wolfgang
- Adams Mark Raymond
- Adams Todd
- Adzic Petar
- Agapitos Antonis
- Agaras Merve Nazlim
- Aggleton Robin
- Agram Jean-Laurent
- Ahmad Ashfaq
- Ahmad Muhammad
- Ahmad Muhammad
- Ahmed Ijaz
- Ahuja Sudha
- Akbiyik Melike
- Akchurin Nural
- Akgun Bora
- Al-bataineh Ayman
- Albajar Carmen
- Albergo Sebastiano
- Albert Andreas
- Albrow Michael
- Alcaraz Maestre Juan
- Aldaya Martin Maria
- Aleksandrov Aleksandar
- Alexander James
- Alhusseini Mohammad
- Alimena Juliette
- Allen Brandon
- Almond John
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- Alverson George
- Alves Fábio Lúcio
- Alves Gilvan
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- Andrews Michael Benjamin
- Androsov Konstantin
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- Smith Vincent J
- Smith Wesley H
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- Tomalin Ian R
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- Wang Sicheng
- Wang Ta-Wei
- Wang Xiao
- Wang Yanchu
- Wang Yi
- Wang Zhangqier
- Wang Zheng
- Wang Zhixing
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- Wayand Stefan
- Wayne Mitchell
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- Wen Yiwen
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- Wichmann Katarzyna
- Wiederkehr Stephan Albert
- Wightman Andrew
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- Williams Thomas
- Williamson Shawn
- Wimpenny Stephen
- Winer Brian L
- Winterbottom Daniel
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- Xu Zijun
- Yagil Avraham
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- Yang Yu Chul
- Yates Brent
- Yazgan Efe
- Yetkin Elif Asli
- Yohay Rachel
- Yoo Hwi Dong
- Yoo Jaehyeok
- You Can
- Yu David
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- Yu Intae
- Yu Shin-Shan
- Yuan Li
- Yuldashev Bekhzod S
- Yumiceva Francisco
- Yusli Mohd Nizam
- Zabel James
- Zabi Alexandre
- Zaganidis Nicolas
- Zahid Sema
- Zaleski Shawn
- Zalewski Piotr
- Zanetti Anna
- Zanetti Marco
- Zarubin Anatoli
- Zarucki Mateusz
- Zeinali Maryam
- Zenaiev Oleksandr
- Zenz Seth Conrad
- Zeuner Wolfram Dietrich
- Zevi Della Porta Giovanni
- Zeyrek Mehmet
- Zghiche Amina
- Zhang Aobo
- Zhang Huaqiao
- Zhang Jingyu
- Zhang Sijing
- Zhang Zhicai
- Zhao Jingzhou
- Zhiltsov Victor
- Zhokin Alexander
- Zhu De Hua
- Zhu Ren-Yuan
- Zhukov Valery
- Zientek Margaret
- Zito Giuseppe
- Zobec Joze
- Zolkapli Zukhaimira
- Zorbakir Ibrahim Soner
- Zorbilmez Caglar
- Zotto Pierluigi
- Zou David
- Zucchetta Alberto
- Zumerle Gianni
- Álvarez Fernández Adrian
- Publication venue
- Publication date
- 01/01/2019
- Field of study
A measurement for inclusive 2- and 3-jet events of the azimuthal correlation between the two jets with the largest transverse momenta, Delta phi(12), is presented. The measurement considers events where the two leading jets are nearly collinear ("back-to-back") in the transverse plane and is performed for several ranges of the leading jet transverse momentum. Proton-proton collision data collected with the CMS experiment at a center-of-mass energy of 13 TeV and corresponding to an integrated luminosity of 35.9 fb(-1) are used. Predictions based on calculations using matrix elements at leading-order and next-to-leading-order accuracy in perturbative quantum chromodynamics supplemented with leading-log parton showers and hadronization are generally in agreement with themeasurements. Discrepancies between the measurement and theoretical predictions are as large as 15%, mainly in the region 177 degrees <Delta phi(12) <180 degrees. The 2- and 3-jet measurements are not simultaneously described by any of models.Peer reviewe
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
- Author
- Ahmed M
- Aitken S
- Akawi N
- Alvi M
- Ambridge K
- Anjum U
- Archer H
- Armstrong R
- Awada J
- Balasubramanian M
- Banka S
- Baralle D
- Barnicoat A
- Barrett DM
- Barrett JC
- Batstone P
- Baty D
- Bayzetinova T
- Bennett C
- Berg J
- Bernhard B
- Bevan AP
- Bitner-Glindzicz M
- Blair E
- Blyth M
- Bohanna D
- Bourdon L
- Bourn D
- Bradley L
- Brady A
- Brent S
- Brewer C
- Brunstrom K
- Bunyan DJ
- Burn J
- Canham N
- Castle B
- Chandler K
- Chatzimichali E
- Cilliers D
- Clarke A
- Clasper S
- Clayton S
- Clayton-Smith J
- Clowes V
- Coates A
- Cole T
- Colgiu I
- Collins A
- Collinson MN
- Connell F
- Cooper N
- Cox H
- Cresswell L
- Cross G
- Crow Y
- D'Alessandro M
- Dabir T
- Davidson R
- Davies S
- de Vries D
- Dean J
- Deshpande C
- Devlin G
- Dixit A
- Dobbie A
- Donaldson A
- Donnai D
- Donnelly C
- Donnelly D
- Douglas A
- Douzgou S
- Duncan A
- Eason J
- Ellard S
- Ellis I
- Elmslie F
- Evans K
- Everest S
- Fendick T
- Firth HV
- Fisher R
- Fitzgerald TW
- FitzPatrick DR
- Flinter F
- Foulds N
- Fry A
- Fryer A
- Gardiner C
- Gaunt L
- Ghali N
- Gibbons R
- Gill H
- Goodship J
- Goudie D
- Gray E
- Green A
- Greene P
- Greenhalgh L
- Gribble S
- Harrison L
- Harrison V
- Hawkins R
- He L
- Hellens S
- Henderson A
- Hewitt S
- Hildyard L
- Hobson E
- Holden S
- Holder M
- Holder S
- Hollingsworth G
- Homfray T
- Humphreys M
- Hurles ME
- Hurst J
- Hutton B
- Ingram S
- Irving M
- Islam L
- Jackson A
- Jarvis J
- Jenkins L
- Johnson D
- Jones E
- Jones P
- Jones WD
- Josifova D
- Joss S
- Kaemba B
- Kaplanis J
- Kazembe S
- Kelsell R
- Kerr B
- King D
- Kingston H
- Kini U
- Kinning E
- Kirby G
- Kirk C
- Kivuva E
- Kraus A
- Krishnappa N
- Kumar D
- Kumar VKA
- Lachlan K
- Lam W
- Lampe A
- Langman C
- Lees M
- Lim D
- Longman C
- Lowther G
- Lynch SA
- Magee A
- Maher E
- Male A
- Mansour S
- Marks K
- Martin K
- Mason LE
- Maye U
- McCann E
- McConnell V
- McEntagart M
- McGowan R
- McKay K
- McKee S
- McMullan DJ
- McNerlan S
- McRae JF
- McWilliam C
- Mehta S
- Metcalfe K
- Middleton A
- Miedzybrodzka Z
- Miles E
- Mohammed S
- Montgomery T
- Moore D
- Morgan S
- Morton J
- Mugalaasi H
- Murday V
- Murphy H
- Naik S
- Nellaker C
- Nemeth A
- Nevitt L
- Newbury-Ecob R
- Norman A
- O'Shea R
- Ogilvie C
- Ong K-R
- Park S-M
- Parker MJ
- Parker MJ
- Patel C
- Paterson J
- Payne S
- Perrett D
- Phipps J
- Pilz DT
- Pollard M
- Pottinger C
- Poulton J
- Pratt N
- Prescott K
- Price S
- Pridham A
- Prigmore E
- Procter A
- Purnell H
- Quarrell O
- Ragge N
- Rahbari R
- Rajan D
- Randall J
- Rankin J
- Raymond L
- Rice D
- Robert L
- Roberts E
- Roberts G
- Roberts J
- Roberts P
- Ross A
- Rosser E
- Saggar A
- Samant S
- Sampson J
- Sandford R
- Sarkar A
- Schweiger S
- Scott R
- Scurr I
- Selby A
- Seller A
- Sequeira C
- Shannon N
- Sharif S
- Shaw-Smith C
- Shearing E
- Shears D
- Sheridan E
- Sifrim A
- Simonic I
- Singh T
- Singzon R
- Skitt Z
- Smith A
- Smith K
- Smithson S
- Sneddon L
- Splitt M
- Squires M
- Stewart F
- Stewart H
- Straub V
- Suri M
- Sutton V
- Swaminathan GJ
- Sweeney E
- Tatton-Brown K
- Taylor C
- Taylor R
- Tein M
- Temple IK
- Thomson J
- Tischkowitz M
- Tivey AR
- Tomkins S
- Torokwa A
- Treacy B
- Turner C
- Turnpenny P
- Tysoe C
- Vandersteen A
- Varghese V
- Vasudevan P
- Vijayarangakannan P
- Vogt J
- Wakeling E
- Wallwark S
- Waters J
- Weber A
- Wellesley D
- Whiteford M
- Widaa S
- Wilcox S
- Wilkinson E
- Williams D
- Williams N
- Wilson L
- Woods G
- Wragg C
- Wright CF
- Wright M
- Yates L
- Yau M
- Publication venue
- 'Cold Spring Harbor Laboratory'
- Publication date
- 01/04/2016
- Field of study
Individuals with severe, undiagnosed developmental disorders (DDs) are enriched for damaging de novo mutations (DNMs) in developmentally important genes. We exome sequenced 4,293 families with individuals with DDs, and meta-analysed these data with published data on 3,287 individuals with similar disorders. We show that the most significant factors influencing the diagnostic yield of de novo mutations are the sex of the affected individual, the relatedness of their parents and the age of both father and mother. We identified 94 genes enriched for damaging de novo mutation at genome-wide significance (P < 7 × 10−7), including 14 genes for which compelling data for causation was previously lacking. We have characterised the phenotypic diversity among these genetic disorders. We demonstrate that, at current cost differentials, exome sequencing has much greater power than genome sequencing for novel gene discovery in genetically heterogeneous disorders. We estimate that 42% of our cohort carry pathogenic DNMs (single nucleotide variants and indels) in coding sequences, with approximately half operating by a loss-of-function mechanism, and the remainder resulting in altered-function (e.g. activating, dominant negative). We established that most haplo insufficient developmental disorders have already been identified, but that many altered-function disorders remain to be discovered. Extrapolating from the DDD cohort to the general population, we estimate that developmental disorders caused by DNMs have an average birth prevalence of 1 in 213 to 1 in 448 (0.22-0.47% of live births), depending on parental age
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
- Author
- Ahmed Munaza
- Aitken Stuart
- Aitman Timothy
- Akawi Nadia
- Al Turki Saeed
- Alachkar Hana
- Ali Sonia
- Allen Hana Lango
- Allen Louise
- Allsup David
- Alvi Mohsan
- Ambegaonkar Gautum
- Ambridge Kirsty
- Anderson Carl
- Anderson Julie
- Anjum Uruj
- Anney Richard
- Antony Dinu
- Antrobus Richard
- Archer Hayley
- Armstrong Ruth
- Armstrong Ruth
- Arno Gavin
- Artigas Maria Soler
- Arumugakani Gururaj
- Ashford Sofie
- Astle William
- Attwood Antony
- Austin Steve
- Awada Jana
- Ayub Muhammad
- Bacchelli Chiara
- Bakchoul Tamam
- Balasubramaniam Senduran
- Balasubramanian Meena
- Banka Siddharth
- Baralle Diana
- Bariana Tadbir K.
- Barnicoat Angela
- Barrett Daniel M.
- Barrett Jeffrey C.
- Barrett Jeffrey C.
- Barroso Inês
- Batstone Paul
- Baty David
- Baxendale Helen
- Bayzetinova Tanya
- Beales Phil
- Bennett Chris
- Bennett David
- Bentham Jamie
- Berg Jonathan
- Bernhard Birgitta
- Bethune Claire
- Bevan A. Paul
- Bhattacharya Shoumo
- Bibi Shahnaz
- Birney Ewan
- Bitner-Glindzicz Maria
- Bitner-Glindzicz Maria
- Blackwood Douglas
- Blair Edward
- Bleda Marta
- Blyth Moira
- Bobrow Martin
- Bochukova Elena
- Boggard Harm
- Bohanna David
- Bolton Patrick
- Bolton-Maggs Paula
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- Vijayarangakannan Parthiban
- Visscher Peter M.
- Vogt Julie
- Vogt Julie
- von Ziegenweldt Julie
- Vonk Noordegraaf Anton
- Wain Louise V.
- Wakeling Emma
- Wakeling Emma
- Wallwark Sarah
- Walters James T.R.
- Wang Guangbiao
- Wang Jun
- Wang Yu
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- Ward Kirsten
- Warner Timothy Q.
- Wassmer Evangeline
- Wassmer Evangeline
- Waters Jonathon
- Watkins Hugh
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- Wellesley Diana
- Westbury Sarah
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- Wheeler Elanor
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- Widaa Sara
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- Wilkins Martin
- Wilkinson Emily
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- Williams Denise
- Williams Hywel
- Williams Nicola
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- Williamson Kathleen A.
- Wilson Crispian
- Wilson Louise
- Wong Kim
- Woods Geoff
- Woods Geoffrey
- Wort John
- Wragg Christopher
- Wright Caroline F.
- Wright Michael
- Xu ChangJiang
- Yang Jian
- Yates Laura
- Yau Michael
- Yeatman Nigel
- Yong Patrick
- Young Tim
- Yu Ping
- Zhang Fend
- Zhang Pingbo
- Publication venue
- AJHG
- Publication date
- 01/01/2019
- Field of study
The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)
Effect of angiotensin-converting enzyme inhibitor and angiotensin receptor blocker initiation on organ support-free days in patients hospitalized with COVID-19
- Author
- ?ivko Iris
- Abbass Hakam
- Abdeladim Lilia
- Abdelhady Hesham
- Abdelkharim Hussam
- Abdelrazik Marwa
- Abdi Zakee
- Abdukahil Sheryl Ann
- Abel Lynn
- Abraham Jacinta
- Abrahamson Gail
- Abusamra Yousuf
- Aceto Romina
- Adams Nick
- Adams Peter
- Adebambo Olumide
- Adhikari Neill
- Adhikari Sheetal
- Affleck Julia
- Agha Gloria
- Aghemo Alessio
- Agno Ronan
- Ahmad Norfaizan
- Ain Quratul
- Ainscough Kate
- Ainsworth James
- Aitken Lindianne
- Akamp Ceren
- Al Enezi Farhan
- Al-Bassam Wisam
- Al-Beidh Farah
- Albert Martin
- Albrett Jonathan
- Alderman Meera
- Aldo Bonizzoni Matteo
- Alegria Ana
- Alessandro Carà Gianmarco
- Alexander Brian
- Alexander Peter
- Alfonso Jordan
- Ali Maryam
- Ali Murtaza
- Allam Hayat
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- Allibone Suzanne
- Almeshhedani Hasham
- AlQahtani Samah
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- Altomy Mohammed
- Al Amri Ali
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- Ambrosino Richard
- Anderson Thomas
- Andreae Mark
- Aneman Anders
- Angus Derek C.
- Anjum Aisha
- Ankert Juliane
- Annane Djillali
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- Anstey Matthew
- Antcliffe David
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- Antoine Studer
- Anumakonda Vikram
- Aparicio Christelle
- Aquino Maia
- Arabi Yaseen M.
- Arachchige Malka
- Aravindan Latha
- Arbane Gill
- Archambault Patrick
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- Parsons Penny
- Pasieka Bastian
- Patanwala Asad
- Patawala Asad
- Patch Sarah
- Patel Amit
- Patel Bijal
- Patel Brijesh
- Patel Kamal
- Paterson David
- Pathak Shreya
- Patil Sonal
- Patterson Lisa
- Paudel Pratibha
- Peake Sandra
- Pearson Harriet
- Pearson Karen
- Pech Yadira
- Pegler Suzannah
- Pellicano Susan
- Pemberton Abigail
- Pendlebury Jessica
- Pereira Rita
- Pereira Tiago Nuno Alfaro Lima
- Perez Jane
- Perri Reno
- Peters Anna
- Peters Cecilia
- Peters Marco
- Peters Sam
- Peters Svenja
- Petros Sirak
- Pettilä Leena
- Pettilä Ville
- Phalod Gunjan
- Philbin Jennifer
- Philip Annlin
- Philippe Rigaud
- Phillips Barbara
- Phillips Matt
- Phua Jason
- Phull Mandeep-Kaur
- Phuyal Aarti
- Pickering Charlotte
- Pickkers Peter
- Piercy Charlie
- Pietersma Mario
- Pillai Suresh
- Pinder Meredith
- Pinnell Jez
- Pinto Marta
- Pitts Sally
- Piva Simone
- Plantefeve Gaetan
- Platenkamp Ellen
- Plesnikova Yvonna
- Pletz Mathias
- Plummer Bethany
- Plummer Mark
- Pogreban Tatiana
- Pogson David
- Polfliet Margot
- Polgarova Petra
- Polley Grace
- Pollock Katrina M.
- Pomeroy Fiona
- Poojara Latesh
- Pooni Jagtar- Singh
- Porteous Rebecca
- Porter David
- Postlethwaite Kelly
- Postma Douwe
- Potter Alison
- Potter Sarah
- Poulter Amber-Louise
- Poupblanc Séverine
- Pouplet Caroline
- Pourcine Franck
- Povoa Pedro
- Powell Elizabeth
- Prabakaran Rajalakshmi
- Pradel Gael
- Pratheema Ramachandran
- Prebeg Katharina
- Preijers Lieke
- Presneill Jeffrey
- Pridee Nicole
- Prinssen Anton
- Pritchard Kelly
- Proudfoot Nicola
- Prout Rachel
- Pugh Richard
- Purandare Laura
- Purnell Rebecca
- Purohit Dharam
- Purvis Sarah
- Puskarich Michael
- Putensen Daniel
- Puthucheary Zudin
- Puxty Kathryn
- Pérez-Terán Purificación
- Põldots Liisi
- Qiu Shan
- Qiu Xinyi
- Quayle Rachael
- Quenot Jean Pierre
- Quinn Alison
- Quinn Kevin
- Qureshi Hafiz
- Raczek James
- Rad Laura
- Rademaker Emma
- Rahmani Hassene
- Rai Namrata
- Rai Sabi
- Raithatha Ajay
- Raj Ashok
- Ralston Maximillian
- Ramakrishnan N
- Ramali Mohamed
- Ramamurthi Balaji
- Ramanan Mahesh
- Ramos Angelo
- Ramos Lidia
- Randell Georgina
- Rangan Ritika
- Ranganathan Lakshmi
- Rao Deepak
- Rashan Aasiyah
- Rashan Sumayyah
- Ratcliffe Megan
- Ratnam Valli
- Ravry Celine
- Rawlins Sam
- Reay Michael
- Rebello Rashmi
- Reddy Amie
- Reddy Harsha
- Reed Catherine
- Rees Stephanie
- Reeve Brenda
- Regli Adrian
- Rehman Atique
- Reid Andrew
- Reid Liadain
- Reidy Bryan
- Reill Lorenz
- Reinhard Veronika
- Rengers Els
- Rennit Pille
- Reschreiter Henrik
- Reverté-Villarroya Silvia
- Revill Adam
- Rewa Oleksa
- Reyes Luis Felipe
- Reynolds Bob
- Reynolds Claire
- Reynolds Jessica
- Rhodes Jonathan
- Richards Carol
- Richards Suzanne
- Richards-Belle Alvin
- Richardson Aaron
- Richardson Angus
- Richecoeu Jack
- Riches Joanne
- Ricketts Dan
- Ricketts Daniel
- Riddell Phillip
- Riepe Ansgar
- Rietveld Ilse
- Rimmer Dominic
- Ripa Marco
- Rissen Reimer
- Ristimäki Sanna
- Ritzema Jenny
- Rivett Justine
- Rizzoni Damiano
- Roberts Belinda
- Roberts David
- Roberts Eilir
- Roberts Tracey
- Robertson Debra
- Robinson Matt
- Roche Lisa
- Roche-Campo Ferran
- Rochwerg Bram
- Rodden Natalie
- Rodriguez Marina
- Rodríguez-Gómez Jorge
- Roebers Harald
- Roedl Kevin
- Rohde Gernot
- Rojo Roceld
- Romagnuolo Tina
- Roman Jaime
- Romberg Birgit
- Rook Clare
- Rooney Kevin
- Roovers Noortje
- Rosaroso Lace
- Rosborough Brian
- Rose Steve
- Rosenstein-Sisson Rachel
- Ross Elizabeth
- Rostron Anthony
- Roth Jason
- Rouge Patrick
- Roumen Rudy
- Rounds Charles
- Rovere-Querini Patrizia
- Rowan Kathryn M.
- Rowe-Leete Louise
- Rowland Matthew
- Roy Alistair
- Roynon-Reed Anna
- Rueß-Paterno Giusi
- Ruiz Winningtom
- Runge Isabelle
- Ruselli Giovanna
- Russo Giada
- Ryalls Kim
- Ryan Donal
- Ryan Lucy
- Sabaretnam Suganya
- Sabelhaus Timo
- Sackrowitz Rachel
- Sadera Girendra
- Sadique Zia
- Sagnier Anne
- Saha Sian
- Saint Martin Marjorie
- Saito Hiroki
- Saiyed Salim
- Salahuddin Nawal
- Salberg Armorel
- Saleem Malik
- Salhi Sara
- Sall Jas
- Salmon Charlotte
- Salmon Karen
- Saluja Rupali
- Saluzzio Romina
- Salvati Stefano
- Sampson Julia
- Sanders Arnate
- Sanderson Amanda
- Sandhu Gyan
- Sanghavi Ritesh
- Santamaria John
- Santos Filipa
- Santos Marlene S.
- Sapsford David
- Sara Treena
- Saran Anita
- Sathe Sonia
- Sathianathan Kushaharan
- Sathianathan Prasannakumari
- Saull Michelle
- Saunders Christina T.
- Saunderson Paula
- Sauras-Colón Esther
- Saxena Manoj
- Sayada Sarah
- Sayehli Cyrus
- Scanlan Jeremy
- Scano Riccardo
- Schaaf Bernhard
- Schlegel Christian
- Schmidhofer Mark
- Schneider Francis
- Schoenling Andrew
- Scholl Denise
- Schotsman Joost
- Schouten Jeroen
- Schueler Robert
- Schuster-Bruce Martin
- Schutgens Roger
- Schweikert Sacha
- Scott Kathryn
- Scott Zoe
- Scully Michael
- Seaman Rebecca
- Seidel Antje
- Seidu Fatima
- Seigne Patick
- Sekiwala Rose
- Sellers Katharine
- Selmi Carlo
- Sement Arnaud
- Senya Ho
- Seppelt Ian
- Sernicola Elisa
- Serri Karim
- Sevilla Chanthou
- Seymour Christopher W.
- Shah Faraaz
- Shahid Tasnin
- Shaikh Arif
- Shaikh Mohiuddin
- Shakya Roshni
- Shankar-Hari Manu
- Sharma Deepak
- Shaw David
- Shaw Deborah
- Shaw Joanne
- Shearer Audrey
- Sheath Ben
- Sheffield Jonathan
- Shehabi Yahya
- Shekar Kiran
- Shelton Sarah
- Sherwood Nick
- Shetty Varun
- Shields Fiona
- Shimabukuro-Vornhagen Alexander
- Shintani Ayumi
- Shirley Kim
- Shovelton Charmaine
- Shree Madhu
- Shrestha Namrata
- Shrestha Sabita
- Shrestha Tapaswi
- Shu Ki Lok Jennifer
- Shyamsundar Murali
- Siami Shidasp
- Sibin Sindhu
- Sicat Christine
- Siddiqui Atif
- Siddiqui Ayesha
- Sidéris Georgios
- Siewerski Chris
- Siika Wangari
- Sikondari Nyma
- Silversides Jon
- Sim Malcolm
- Simmonds Catherine
- Simons Koen
- Simpson Benjamin
- Simpson Joanna
- Simpson Scott
- Simpson Tom
- Sinclair Julie-Ann
- Singh Jayaprakash
- Singh Rajeev
- Singh Vanessa
- Singler Karen
- Singleton Jo
- Sinha Pratik
- Skinner Denise
- Skinner Tabitha
- Skorko Agnieszka
- Skrtich Aimee
- Slaughter Melanie
- Slieker Kitty
- Sligl Wendy
- Sloan Andrew
- Sloots-Cuppen Sonja
- Small Charlotte
- Smallshaw Karen
- Smallwood Andrew
- Smee Joanna
- Smit Albertine
- Smith Alex
- Smith Catherine
- Smith Eleanor
- Smith Emma
- Smith John
- Smith Judith
- Smith Julie
- Smith Kerry
- Smith Lucie
- Smith Matthew
- Smith Natalie
- Smith Oliver
- Smith Paul
- Smith Simon
- Smith Tim
- Smuts Sara
- Smyth Kirsty
- Smyth Michelle
- Smyth Naoise
- Soar Natalie
- Solesbury Amanda
- Somerville Alastair
- Song Rima
- Soukup Jens
- Southern David
- Southin Sara
- Spain Sandra
- Speight Holly
- Spencer Kayleigh
- Spencer Stephen
- Spencer Thomas
- Speyer Rebecca
- Spiers Catriona
- Spittle Nick
- Spivey Michael
- Spong Adam
- Sprinckmoller Stefan
- Squires Rebecca
- Stambaugh Martha
- Stammers Katie
- Stanciu Delia
- Stanley Timothy
- Stanworth Simon
- Stapleton Liana
- Starke Lisa
- Stavor Dara
- Stedman Roger
- Steffen Melanie
- Stephanie Gelinotte
- Stephens Deanna
- Stevenson Lesley
- Stewart Richard
- Stienstra Riejanne
- Stone Sarah
- Stowe Bethan
- Stratton Emma
- Stronach Lucy
- Suber Tomeka
- Sukuraman Anila
- Summerfield Anna
- Summers Charlotte
- Sundaram Radha
- Sundaran Dhinesh
- Sunkara Krishna
- Surti Zuhra
- Sutherland Helen
- Sutherland Sara-Beth
- Sutterlin Laetitia
- Sutton Joanne
- Sutu Mihaela
- Sven?ek Franc
- Svit?kar Nikolai
- Swabe Jacqueline
- Sweet Katie
- Sy Eric
- Szakmany Tamas
- Szawarski Piotr
- Tai Charlotte
- Tait Jennifer
- Talia Nadine
- Tallott Mandy
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- Tamme Kadri
- Taqdees Huda
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- Tate Margaret
- Tatham Kate
- Tavares Silvia
- Taylor Holly
- Taylor Melanie
- Taylor Sian
- Tee Ameila
- Templeton Maie
- Teo Hoon
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- The Stephanie
- Thedinga Karen
- Thomas Amy
- Thomas Ashly
- Thomas Emma
- Thomas Helen
- Thomas Matt
- Thomas Vicky
- Thompson Patricia
- Thompson Taylor
- Thomson Nicola
- Thrush Jessica
- Thurairatnam Saranya
- Tierney Carey
- Tinmouth Alan
- Tirot Patrice
- Tlayjeh Haytham
- Toffalo Sue
- Tolppa Timo
- Tomasi Enrico
- Tomlinson Helen
- Tong Steve
- Tong Steven
- Tony Kiran
- Totzke Juliane
- Touma Omar
- Towns Miriam
- Trapani Tony
- Trask Kara
- Traverse Eleanor
- Trickey Jemma
- Trim Fiona
- Trimmer Ken
- Triulzi Darrell
- Troeman Darren
- Trues Estefania
- Truman Nicholas
- Tsakiridou Kyriaki
- Tsang Jennifer
- Tsinaslanidis Georgios
- Tuckwell Caroline
- Tully Redmond
- Tully Riona
- Tung Raymond
- Tupper-Carey Daryl
- Turgeon Alexis F.
- Turki Salah
- Turner Anne M.
- Turner Elizabeth
- Turner Keri
- Turner-Bone Ian
- Turns Margaret
- TV Bharath
- Udayanga Ishara
- Uddin Ruzena
- Udy Andrew
- Ullmann Hannah
- Umrani Zulfiqar
- Unsworth Adam
- Uriel Alison
- Ustianowski Andrew
- Uyeki Tim
- Vaara Suvi
- Vaduganathan Muthiah
- Vahtera Annukka
- Vale Cassandra
- Valentine Eliza
- Vamplew Luke
- van Amerongen Roosmarijn
- van Bentum-Puijk Wilma
- van Bree Sjoerd
- van de Veerdonk Frank L.
- van den Berg Lettie
- van den Oever Huub
- van der Eng Hetty
- Van Der Heyden Kymbalee
- van der Kraan-Donker Annemarie
- van Gulik Laura
- van Haren Frank
- Van Hecke Jolien
- van Kimmenade Roland
- van Nieuwkoop Kees
- van Zanten Arthur
- van Zuylen Tamara
- Van?t Hoff William
- Vandewoestyne Sophie
- Vanjak Christian
- Vanmali Piyush
- van Opdorp Marjolein
- van Vonderen Marit
- Vargas Jr. Jesus
- Varghese Siby
- Vautier Sarah
- Vazquez-Grande Gloria
- Veenith Tonny
- Veillard Marion
- Venkatesh Bala
- Verlander Mark
- Vermassen Joris
- Vermeiren Daisy
- Vermont - van der Staaij Janine
- Verrier Nathalie
- Vertue Mark
- Verula Jerik
- Victor Saji
- Viehman Alex
- Vieillard-Baron Antoine
- Vignesh C
- Villot Solenne
- Vilá Clara
- Vincent Rachel
- Virdee Satwinder
- Visentin Elisa
- Visser Yorik
- Vita Tina
- Vivier Dominique
- Vodovar Dominique
- Voicu Sebastian
- Voigt Ingo
- Voiriot Guillaume
- Volkov Lev
- Voza Gennaro
- Vuylsteke Alain
- Wada Asako
- Waddington Natalia
- Wahl Nadine
- Waite Alicia
- Walden Andrew
- Walker Gena
- Walker Rachel
- Walker Susan
- Walsh Joanne
- Walsh Tim
- Walsham James
- Walton Catherine
- Wang Shu
- Ward Geraldine
- Ward Kathryn
- Ward Luke
- Warnapura Loku
- Warnock Majella
- Watchorn Olivia
- Waters Abby
- Waterson Sharon
- Watkins Claire
- Watpool Irene
- Watters Malcolm
- Watts Angela
- Waugh Victoria
- Webb Steve A.
- Weber Lisa
- Webster Denise
- Weerasinghe Thanuja
- Weismann Dirk
- Weiss Daniel
- Weissman Alexandra
- Wells Alan
- Wells Colin
- Wells Karen
- Welters Ingeborg
- West Lauren
- Westlake Samantha
- Wetherill Bill
- Wetzold Richard
- Whileman Amanda
- Whitbread Jennifer
- White Alison
- White Hayden
- White Ian
- White Katie
- Whitehead Christina
- Whitehouse Tony
- Wibrow Bradley
- Wigbers Jeanette
- Wijewardena Gayathri
- Wilby Elizabeth
- Wilcox Elizabeth
- Wilcox Louise
- Wild Helen
- Wild Laura
- Wilding Laura
- Wiles Matt
- Wiley Daisy
- Wilhelmsen Elva
- Wilkinson Dean
- Willams Felicity
- Williams Alexandra
- Williams Angharad
- Williams Anna
- Williams Erin
- Williams Gemma
- Williams Hannah
- Williams Karen
- Williams Marie
- Williams Patricia
- Williams Penny
- Williams Tony
- Williams Virginie
- Williamson Dawn
- Williamson James D
- Willis Joanna
- Willson Jayne
- Wilson Anna
- Wilson Craig
- Wilson Jean
- Wilson Maggie
- Winters James
- Winters Lauren
- Wise Matt
- Wisniewski Mary
- Wittekamp Bastiaan
- Wittenberg Wendy
- Wnuk Chris
- Woelke Amy
- Wong Jenny
- Wong Onyee
- Wood Erica
- Wood Hannah
- Wood Tracy
- Woods Jane
- Woods Lindsey
- Woodward Robert
- Woolett Melissa
- Worner Ruth
- Wren Jess
- Wren Lynn
- Wrey Brown Caroline
- Wright Chris
- Wright Kim
- Wunderley Renee
- Wyatt Rachel
- Wylie Katharine
- Xavier Kugan
- Yamagishi Yoshiaki
- Yamashita Chizuru
- Yang Yang
- Yarad Elizabeth
- Yates Bryan
- Yates David
- Yealy Donald
- Young Ian
- Young Meredith
- Young Paul
- Youngstein Taryn
- Yu Haili
- Yusuff Hakeem
- Zaharia Mihaela
- Zaidi Abbas
- Zaki Ahmed
- Zaman Mohsin
- Zarychanski Ryan
- Zdanavidiene Ausra
- Zhao Xiao
- Zinzoni Vanessa
- Zitter Letizia
- Zouita Louisa
- Publication venue
- 'American Medical Association (AMA)'
- Publication date
- 11/04/2023
- Field of study
IMPORTANCE Overactivation of the renin-angiotensin system (RAS) may contribute to poor clinical outcomes in patients with COVID-19.
Objective To determine whether angiotensin-converting enzyme (ACE) inhibitor or angiotensin receptor blocker (ARB) initiation improves outcomes in patients hospitalized for COVID-19.
DESIGN, SETTING, AND PARTICIPANTS In an ongoing, adaptive platform randomized clinical trial, 721 critically ill and 58 non–critically ill hospitalized adults were randomized to receive an RAS inhibitor or control between March 16, 2021, and February 25, 2022, at 69 sites in 7 countries (final follow-up on June 1, 2022).
INTERVENTIONS Patients were randomized to receive open-label initiation of an ACE inhibitor (n = 257), ARB (n = 248), ARB in combination with DMX-200 (a chemokine receptor-2 inhibitor; n = 10), or no RAS inhibitor (control; n = 264) for up to 10 days.
MAIN OUTCOMES AND MEASURES The primary outcome was organ support–free days, a composite of hospital survival and days alive without cardiovascular or respiratory organ support through 21 days. The primary analysis was a bayesian cumulative logistic model. Odds ratios (ORs) greater than 1 represent improved outcomes.
RESULTS On February 25, 2022, enrollment was discontinued due to safety concerns. Among 679 critically ill patients with available primary outcome data, the median age was 56 years and 239 participants (35.2%) were women. Median (IQR) organ support–free days among critically ill patients was 10 (–1 to 16) in the ACE inhibitor group (n = 231), 8 (–1 to 17) in the ARB group (n = 217), and 12 (0 to 17) in the control group (n = 231) (median adjusted odds ratios of 0.77 [95% bayesian credible interval, 0.58-1.06] for improvement for ACE inhibitor and 0.76 [95% credible interval, 0.56-1.05] for ARB compared with control). The posterior probabilities that ACE inhibitors and ARBs worsened organ support–free days compared with control were 94.9% and 95.4%, respectively. Hospital survival occurred in 166 of 231 critically ill participants (71.9%) in the ACE inhibitor group, 152 of 217 (70.0%) in the ARB group, and 182 of 231 (78.8%) in the control group (posterior probabilities that ACE inhibitor and ARB worsened hospital survival compared with control were 95.3% and 98.1%, respectively).
CONCLUSIONS AND RELEVANCE In this trial, among critically ill adults with COVID-19, initiation of an ACE inhibitor or ARB did not improve, and likely worsened, clinical outcomes.
TRIAL REGISTRATION ClinicalTrials.gov Identifier: NCT0273570
Analysis of Intracorporeal Compared with Extracorporeal Urinary Diversion After Robot-assisted Radical Cystectomy:Results from the International Robotic Cystectomy Consortium
- Author
- Agarwal Piyush K
- Ahmed Kamran
- Badani Ketan K
- Balbay M Derya
- Castle Erik P
- Dasgupta Prokar
- Ghavamian Reza
- Guru Khurshid A
- Hayn Matthew H
- Hemal Ashok K
- Hollenbeck Brent K
- Khan Muhammad Shamim
- Khan Shahid A
- Kibel Adam S
- Menon Mani
- Mottrie Alex
- Nepple Kenneth
- Pattaras John G
- Peabody James O
- Poulakis Vassilis
- Pruthi Raj S
- Redorta Joan Palou
- Rha Koon-Ho
- Richstone Lee
- Saar Matthias
- Scherr Douglas S
- Siemer Stefan
- Stoeckle Michael
- Wallen Eric M
- Weizer Alon Z
- Wiklund Peter
- Wilson Timothy
- Woods Michael
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/02/2014
- Field of study
BACKGROUND: Intracorporeal urinary diversion (ICUD) has the potential benefits of a smaller incision, reduced pain, decreased bowel exposure, and reduced risk of fluid imbalance.
OBJECTIVE: To compare the perioperative outcomes of patients undergoing extracorporeal urinary diversion (ECUD) and ICUD following robot-assisted radical cystectomy (RARC).
DESIGN, SETTING, AND PARTICIPANTS: We reviewed the database of the International Robotic Cystectomy Consortium (IRCC) (18 international centers), with 935 patients who had undergone RARC and pelvic lymph node dissection (PLND) between 2003 and 2011.
INTERVENTION: All patients within the IRCC underwent RARC and PLND as indicated. The urinary diversion was performed either intracorporeally or extracorporeally.
OUTCOME MEASUREMENTS AND STATISTICAL ANALYSIS: Demographic data, perioperative outcomes, and complications in patients undergoing ICUD or ECUD were compared. All patients had at least a 90-d follow-up. The Fisher exact test was used to summarize categorical variables and the Wilcoxon rank sum test or Kruskal-Wallis test for continuous variables.
RESULTS AND LIMITATIONS: Of 935 patients who had RARC and PLND, 167 patients underwent ICUD (ileal conduit: 106; neobladder: 61), and 768 patients had an ECUD (ileal conduit: 570; neobladder: 198). Postoperative complications data were available for 817 patients, with a minimum follow-up of 90 d. There was no difference in age, gender, body mass index, American Society of Anesthesiologists grade, or rate of prior abdominal surgery between the groups. The operative time was equivalent (414 min), with the median hospital stay being marginally longer for the ICUD group (9 d vs 8 d, p=0.086). No difference in the reoperation rates at 30 d was noted between the groups. The 90-d complication rate was not significant between the two groups, but a trend favoring ICUD over ECUD was noted (41% vs 49%, p=0.05). Gastrointestinal complications were significantly lower in the ICUD group (p ≤ 0.001). Patients with ICUD were at a lower risk of experiencing a postoperative complication at 90 d (32%) (odds ratio: 0.68; 95% confidence interval, 0.50-0.94; p=0.02). Being a retrospective study was the main limitation.
CONCLUSIONS: Robot-assisted ICUD can be accomplished safely, with comparable outcomes to open urinary diversion. In this cohort, patients undergoing ICUD had a relatively lower risk of complications
Mapping the human genetic architecture of COVID-19
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- Worner R.
- Worsley L.
- Wouters D.
- Wozniak H.
- Wray G.
- Wren L.
- Wright D.
- Wright J.
- Wright M.
- Wrobel N.
- Wu Y.
- Wulandari R.
- Wyllie D. H.
- Wynter I.
- Xavier K.
- Xue X.
- Yadav A.
- Yagi K.
- Yamada M.
- Yamada Y.
- Yamagata K.
- Yamasaki M.
- Yang G.
- Yang J.
- Yang Z.
- Yaspan B.
- Yasui Y.
- Yates B.
- Yatomi M.
- Ye C.
- Yengo L.
- Yermakovich D.
- Yi X.
- Yonekawa A.
- Yoon H.
- Yoon K. J.
- Yoshida K.
- Yoshida S.
- Yoshida S.
- Yoshida T.
- Yoshihara T.
- Yoshiya K.
- Yoshiyama T.
- Youlton N.
- Young P.
- Yun N.
- Zak A.
- Zaki A.
- Zambon M.
- Zamikula J.
- Zanella A.
- Zanella I.
- Zanelli G.
- Zara F.
- Zarate R.
- Zborowski A. C.
- Zeberg H.
- Zechner M.
- Zguro K.
- Zhai R.
- Zhang M.
- Zhao J. H.
- Zhen J.
- Zheng C.
- Zheng T.
- Zhou W.
- Zhu W.
- Zitter L.
- Zlatopolsky M.
- Zoller H.
- Zollner S.
- Zongo O.
- Zucchi P.
- Zyndorf M.
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2021
- Field of study
The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3–7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease
Suicide
- Author
- A Fleischmann
- A Gershon
- A Stoep
- AE Kazdin
- AJ Zemetkin
- AL Berman
- AW Bateman
- B Bongar
- B Brodsky
- B Kennard
- B Müller-Oerlinghausen
- C Heeringen Van
- C Mathias
- CM McBride
- CR Lindsey
- D Brent
- D Ryerson
- D Shaffer
- D Shaffer
- D Shaffer
- DA Brent
- DA Brent
- DA Brent
- DC Hayden
- FJ Zenere III
- G Cox
- G Ely
- HG Morgan
- HS Lonczak
- I Borowsky
- I Iscoe
- J Bridge
- J Effinger
- J Fawcett
- J Fawcett
- J Garssen
- J Kalafat
- J Kalafat
- J Kalafat
- J Kalafat
- J Kalafat
- J Kalafat
- J Kaminski
- J Linker
- J Piacentini
- JA Durlak
- JD Hawkins
- JH Rathus
- JJ Mann
- K Castle
- K Castle
- K O’Neil
- K Posner
- KA King
- KL Knox
- L Heidmets
- L Potter
- L Robertson
- L Tondo
- LC Konick
- LL Eggert
- M Eisenberg
- M Miller
- M Olfson
- M Schou
- MD Rudd
- MD Rudd
- MD Rudd
- MD Rudd
- MD Rudd
- MM Linehan
- MM Silverman
- MS Gould
- MS Gould
- MS Gould
- National Action Alliance for Suicide Prevention: Research Prioritization Task Force
- ND Sanddal
- P Trautman
- PA Carlton
- PG Quinnett
- PS Links
- PW O’Carroll
- R Gibbons
- R Jessor
- R King
- RD Felner
- RH Aseltine
- RH Aseltine
- S Hetrick
- S Kasen
- S Shah
- SA Montgomery
- SA Montgomery
- T Coyne-Beasley
- TE Joiner
- TE Joiner
- The National Strategy for Suicide Prevention
- The National Strategy for Suicide Prevention
- TL Eckert
- W Evans
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
- …