94 research outputs found
Music, middle childhood and agency:The value of an interactional-relational approach
- Author
- Publication venue
- 'SAGE Publications'
- Publication date
- 09/06/2017
- Field of study
This article considers the implications of children’s out-of-school musical experiences and activities for conceptualisations of child agency. In particular, it engages with differing approaches to relational agency and considers their value for understanding music-related practice during middle childhood. Accounts from children (n = 111) living in three parts of England are explored, and the subsequent analysis provides the basis for proposing the potential of an interactional–relational approach for approaching questions about children’s agency within such domains of practice and beyond
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy
- Author
- Bedat-Millet Anne-Laure
- Behin Anthony
- Bouhour Francoise
- Chanson Jean-Baptiste
- Echaniz-Laguna Andoni
- Fernández-Eulate Gorka
- Latour Philippe
- Le Forestier Nadine
- Leonard-Louis Sarah
- Masingue Marion
- Michaud Maud
- Nadaj-Pakleza Aleksandra
- Pegat Antoine
- Poinsignon Vianney
- Querin Giorgia
- Record Christopher J
- Reilly Mary M
- Salort-Campana Emmanuelle
- Sole Guilhem
- Spinazzi Marco
- Stojkovic Tanya
- Tard Celine
- Theuriet Julian
- Publication venue
- 'Ovid Technologies (Wolters Kluwer Health)'
- Publication date
- 01/01/2023
- Field of study
BACKGROUND AND OBJECTIVES: Spinal muscular atrophy (SMA) is mainly caused by homozygous SMN1 gene deletions on 5q13. Non-5q SMA patients' series are lacking, and the diagnostic yield of next-generation sequencing (NGS) is largely unknown. The aim of this study was to describe the clinical and genetic landscape of non-5q SMA and evaluate the performance of neuropathy gene panels in these disorders. METHODS: Description of patients with non-5q SMA followed in the different neuromuscular reference centers in France as well as in London, United Kingdom. Patients without a genetic diagnosis had undergone at least a neuropathy or large neuromuscular gene panel. RESULTS: Seventy-one patients from 65 different families were included, mostly sporadic cases (60.6%). At presentation, 21 patients (29.6%) showed exclusive proximal weakness (P-SMA), 35 (49.3%) showed associated distal weakness (PD-SMA), and 15 (21.1%) a scapuloperoneal phenotype (SP-SMA). Thirty-two patients (45.1%) had a genetic diagnosis: BICD2 (n = 9), DYNC1H1 (n = 7), TRPV4 (n = 4), VCP, HSBP1, AR (n = 2), VRK1, DNAJB2, MORC2, ASAH1, HEXB, and unexpectedly, COL6A3 (n = 1). The genetic diagnostic yield was lowest in P-SMA (6/21, 28.6%) compared with PD-SMA (16/35, 45.7%) and SP-SMA (10/15, 66.7%). An earlier disease onset and a family history of the disease or consanguinity were independent predictors of a positive genetic diagnosis. Neuropathy gene panels were performed in 59 patients with a 32.2% diagnostic yield (19/59). In 13 additional patients, a genetic diagnosis was achieved through individual gene sequencing or an alternative neuromuscular NGS. DISCUSSION: Non-5q SMA is genetically heterogeneous, and neuropathy gene panels achieve a molecular diagnosis in one-third of the patients. The diagnostic yield can be increased by sequencing of other neuromuscular and neurometabolic genes. Nevertheless, there is an unmet need to cluster these patients to aid in the identification of new genes
Ancient Antimicrobial Peptides Kill Antibiotic-Resistant Pathogens: Australian Mammals Provide New Options
- Author
- A Gronberg
- A Poudyal
- AA Salamov
- AM Cole
- B Green
- BC Leonard
- Benjamin G. Cocks
- C Whittington
- CH Tyndale-Biscoe
- CI Chang
- CI Chang
- DA Steinberg
- Emily S. W. Wong
- F Abascal
- FA de Latour
- H Zhao
- H Zhou
- J Li
- Jane C. Whitley
- Jessica M. Stringer
- JH Connolly
- Jian Li
- Jianghui Wang
- JM Old
- JM Old
- JM Old
- Jürgen Schauber
- K Ohgami
- K Tamura
- KA Daly
- Katherine Belov
- Kirsty R. Short
- KL Brown
- KL Chhour
- L Tomasinsig
- LM Lim
- M Zanetti
- Marilyn B. Renfree
- MB Renfree
- MB Renfree
- MB Renfree
- MJ Benton
- MW Lisanby
- N Holland
- O Cirioni
- OR Bininda-Emonds
- R Bals
- R Bals
- R Goitsuka
- RE Hancock
- RJ Edwards
- RL Carman
- S Rozen
- SF Altschul
- SR Eddy
- T Grant
- T Uzzell
- W Cai
- WC Warren
- Y Lai
- Y Sang
- Y Wang
- Y Xiao
- Y Xiao
- Y Zhang
- Z Yang
- ZX Luo
- Publication venue
- Public Library of Science
- Publication date
- 01/01/2011
- Field of study
Background: To overcome the increasing resistance of pathogens to existing antibiotics the 10× 20 Initiative declared the urgent need for a global commitment to develop 10 new antimicrobial drugs by the year 2020. Naturally occurring animal antibiotics are an obvious place to start. The recently sequenced genomes of mammals that are divergent from human and mouse, including the tammar wallaby and the platypus, provide an opportunity to discover novel antimicrobials. Marsupials and monotremes are ideal potential sources of new antimicrobials because they give birth to underdeveloped immunologically naïve young that develop outside the sterile confines of a uterus in harsh pathogen-laden environments. While their adaptive immune system develops innate immune factors produced either by the mother or by the young must play a key role in protecting the immune-compromised young. In this study we focus on the cathelicidins, a key family of antimicrobial peptide genes. Principal Finding: We identified 14 cathelicidin genes in the tammar wallaby genome and 8 in the platypus genome. The tammar genes were expressed in the mammary gland during early lactation before the adaptive immune system of the young develops, as well as in the skin of the pouch young. Both platypus and tammar peptides were effective in killing a broad range of bacterial pathogens. One potent peptide, expressed in the early stages of tammar lactation, effectively killed multidrug-resistant clinical isolates of Pseudomonas aeruginosa, Klebsiella pneumoniae and Acinetobacter baumannii. Conclusions and Significance: Marsupial and monotreme young are protected by antimicrobial peptides that are potent, broad spectrum and salt resistant. The genomes of our distant relatives may hold the key for the development of novel drugs to combat multidrug-resistant pathogens
Design in Practice: Bridging the Gap between Design and Use Dichotomies in Practice-Based Studies
- Author
- A Giddens
- A Giddens
- A Lin
- A Majchrzak
- B Fitzgerald
- B Latour
- C U Ciborra
- C U Ciborra
- C U Ciborra
- C U Ciborra
- C Y Baldwin
- D Leonard-Barton
- E Jacucci
- E Vaast
- F R Jacobs
- F X De Vaujany
- F X De Vaujany
- F X De Vaujany
- Francois-Xavier de Vaujany
- G Bourmaud
- G C Bowker
- G Desanctis
- G Desanctis
- G Walsham
- G Walsham
- J Carroll
- J Carroll
- J D Reynaud
- J Damsgaard
- J Esteves
- J Holmstr�m
- J Mingers
- J Orlikowski
- J P Bansler
- K C Cousins
- L Dong
- L Lemaire
- L M Markus
- M Aanestad
- M Archer
- M Callon
- M Callon
- M Emirbayer
- M Jones
- M S Poole
- M S Silver
- N C Ramiller
- N Pollock
- O Hanseth
- P Beguin
- P Bourdieu
- P Dourish
- P J Dobson
- P J Dobson
- P Quintas
- P Rabardel
- P Rabardel
- R Bhaskar
- R J Boland
- R Lamb
- S A Carlsson
- S L Schneberger
- S Proulx
- S R Barley
- S R Barley
- T Cornford
- T F Gattiker
- V Fomin
- V V Fomin
- Vladislav Fomin
- W E Bijker
- W E Bijker
- W J Orlikowski
- W J Orlikowski
- W Orlikowski
- W Orlikowski
- W Orlikowski
- W Orlikowski
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2006
- Field of study
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Observation of electroweak production of two jets in association with an isolated photon and missing transverse momentum, and search for a Higgs boson decaying into invisible particles at 13 TeV with the ATLAS detector
- Author
- Aad G
- Abbott B
- Abbott DC
- Abeling K
- Abhayasinghe DK
- Abidi SH
- Aboulhorma A
- Abramowicz H
- Abreu H
- Abud A Abed
- Abulaiti Y
- Acharya BS
- Achkar B
- Adam L
- Adamczyk L
- Adamek L
- Addepalli SV
- Adelman J
- Adiguzel A
- Adorni S
- Adye T
- Affolder AA
- Afik Y
- Agapopoulou C
- Agaras MN
- Agarwala J
- Aggarwal A
- Agheorghiesei C
- Aguilar-Saavedra JA
- Agullo P Martinez
- Ahmad A
- Ahmadov F
- Ahmed WS
- Ai X
- Aielli G
- Aizenberg I
- Akatsuka S
- Akbiyik M
- Akesson TPA
- Akimov AV
- Al Khoury K
- Alberghi GL
- Albert J
- Albicocco P
- Alderweireldt S
- Aleksa M
- Aleksandrov IN
- Alexa C
- Alexopoulos T
- Alfonsi A
- Alfonsi F
- Alhroob M
- Ali B
- Ali S
- Aliev M
- Alimonti G
- Allaire C
- Allbrooke BMM
- Allport PP
- Aloisio A
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- Alves FL Lucio
- Alviggi MG
- Ambler A
- Ambroz L
- Amelung C
- Amidei D
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- Amrouche CS
- Anastopoulos C
- Andana RY Gonzalez
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- Andrean SY
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- Angelidakis S
- Angerami A
- Anisenkov AV
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- Arguin J-F
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- Armbruster AJ
- Armstrong A
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- Asai K
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- Zagazeta LF Gutierrez
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- Zhemchugov A
- Zheng Z
- Zhong D
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- Zieminska D
- Zimine NI
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- Zormpa O
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- Publication venue
- EUROPEAN PHYSICAL JOURNAL C
- Publication date
- 03/02/2022
- Field of study
This paper presents the measurement of the electroweak production of two jets
in association with a Zγ pair with the Z boson decaying into two
neutrinos. It also presents the search for invisible or partially invisible
decays of a Higgs boson with a mass of 125 GeV produced through vector-boson
fusion with a photon in the final state. These results use data from LHC
proton-proton collisions at s = 13 TeV collected with the ATLAS
detector corresponding to an integrated luminosity of 139 fb−1. The event
signature, shared by all benchmark processes considered for measurements and
searches, is characterized by a significant amount of unbalanced transverse
momentum and a photon in the final state, in addition to a pair of forward
jets. For electroweak production of Zγ in association with two jets, the
background-only hypothesis is rejected with an observed (expected) significance
of 5.2 (5.1) standard deviations. The measured fiducial cross-section for this
process is 1.31±0.29 fb. Observed (expected) upper limit of 0.37 (0.34) at
95% confidence level is set on the branching ratio of a 125 GeV Higgs boson to
invisible particles, assuming the Standard Model production cross-section. The
signature is also interpreted in the context of decays of a Higgs boson to a
photon and a dark photon. An observed (expected) 95% CL upper limit on the
branching ratio for this decay is set at 0.018 (0.017), assuming the 125 GeV
Standard Model Higgs boson production cross-section
Recommended from our members
The ATLAS inner detector trigger performance in pp collisions at 13 TeV during LHC Run 2
- Author
- Aad G
- Abbott B
- Abbott DC
- Abeling K
- Abhayasinghe DK
- Abidi SH
- AbouZeid OS
- Abraham NL
- Abramowicz H
- Abreu H
- Abud A Abed
- Abulaiti Y
- Acharya BS
- Achkar B
- Adam L
- Adamczyk L
- Adamek L
- Adelman J
- Adiguzel A
- Adorni S
- Adye T
- Affolder AA
- Afik Y
- Agapopoulou C
- Agaras MN
- Aggarwal A
- Agheorghiesei C
- Aguilar-Saavedra JA
- Agullo P Martinez
- Ahmad A
- Ahmadov F
- Ahmed WS
- Ahnen J Von
- Ai X
- Aielli G
- Akatsuka S
- Akbiyik M
- Akesson TPA
- Akilli E
- Akimov AV
- Alberghi GL
- Albert J
- Alderweireldt S
- Aleksa M
- Aleksandrov IN
- Alexa C
- Alexopoulos T
- Alfonsi A
- Alfonsi F
- Alhroob M
- Ali B
- Ali S
- Aliev M
- Alimonti G
- Allaire C
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- Xu D
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- Yabsley B
- Yacoob S
- Yallup David
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- Yildiz H Duran
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- Yoshihara K
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- Zagazeta LF Gutierrez
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- Zhao Z
- Zhemchugov A
- Zheng Z
- Zhong D
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- Zhu Y
- Zhuang X
- Zhukov K
- Zhulanov V
- Zieminska D
- Zimine NI
- Zimmermann S
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- Ziolkowski M
- Zivkovic L
- Zoccoli A
- Zoch K
- Zorbas TG
- Zou R
- Zou W
- Zwalinski L
- Publication venue
- EUROPEAN PHYSICAL JOURNAL C
- Publication date
- 08/03/2022
- Field of study
The design and performance of the inner detector trigger for the high level
trigger of the ATLAS experiment at the Large Hadron Collider during the 2016-18
data taking period is discussed. In 2016, 2017, and 2018 the ATLAS detector
recorded 35.6 fb−1, 46.9 fb−1, and 60.6 fb−1 respectively of
proton-proton collision data at a centre-of-mass energy of 13 TeV. In order to
deal with the very high interaction multiplicities per bunch crossing expected
with the 13 TeV collisions the inner detector trigger was redesigned during the
long shutdown of the Large Hadron Collider from 2013 until 2015. An overview of
these developments is provided and the performance of the tracking in the
trigger for the muon, electron, tau and b-jet signatures is discussed. The
high performance of the inner detector trigger with these extreme interaction
multiplicities demonstrates how the inner detector tracking continues to lie at
the heart of the trigger performance and is essential in enabling the ATLAS
physics programme
The ATLAS inner detector trigger performance in pp collisions at 13 TeV during LHC Run 2
- Author
- Aad G
- Abbott B
- Abbott DC
- Abeling K
- Abhayasinghe DK
- Abidi SH
- AbouZeid OS
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- Abramowicz H
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- Sydorenko A
- Sykora I
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- Teoh JJ
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- Teuscher RJ
- Themistokleous N
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- Timoshenko S
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- Tisserant S
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- Traeet A
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- Trincaz-Duvoid S
- Trischuk DA
- Trischuk W
- Trocme B
- Trofymov A
- Troncon C
- Trovato F
- Truong L
- Trzebinski M
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- Tsai F
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- Veloce LM
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- Verbytskyi A
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- Wallangen V
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- Yexley MR
- Yildiz H Duran
- Yin P
- Yorita K
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- Zagazeta LF Gutierrez
- Zaitsev AM
- Zakareishvili T
- Zakharchuk N
- Zambito S
- Zanzi D
- Zeissner SV
- Zeitnitz C
- Zemaityte G
- Zeng JC
- Zenin O
- Zenis T
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- Zerradi S
- Zerwas D
- Zgubic M
- Zhang B
- Zhang DF
- Zhang G
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- Zhang L
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- Zhang M
- Zhang R
- Zhang S
- Zhang X
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- Zhemchugov A
- Zheng Z
- Zhong D
- Zhou B
- Zhou C
- Zhou H
- Zhou M
- Zhou N
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- Zhu C
- Zhu CG
- Zhu H
- Zhu HL
- Zhu J
- Zhu Y
- Zhuang X
- Zhukov K
- Zhulanov V
- Zieminska D
- Zimine NI
- Zimmermann S
- Zinonos Z
- Ziolkowski M
- Zivkovic L
- Zoccoli A
- Zoch K
- Zorbas TG
- Zou R
- Zou W
- Zwalinski L
- Publication venue
- EUROPEAN PHYSICAL JOURNAL C
- Publication date
- 01/01/2022
- Field of study
The design and performance of the inner detector trigger for the high level
trigger of the ATLAS experiment at the Large Hadron Collider during the 2016-18
data taking period is discussed. In 2016, 2017, and 2018 the ATLAS detector
recorded 35.6 fb−1, 46.9 fb−1, and 60.6 fb−1 respectively of
proton-proton collision data at a centre-of-mass energy of 13 TeV. In order to
deal with the very high interaction multiplicities per bunch crossing expected
with the 13 TeV collisions the inner detector trigger was redesigned during the
long shutdown of the Large Hadron Collider from 2013 until 2015. An overview of
these developments is provided and the performance of the tracking in the
trigger for the muon, electron, tau and b-jet signatures is discussed. The
high performance of the inner detector trigger with these extreme interaction
multiplicities demonstrates how the inner detector tracking continues to lie at
the heart of the trigger performance and is essential in enabling the ATLAS
physics programme
Educação científica na perspectiva de letramento como prática social: funções, princípios e desafios
- Author
- AIKENHEAD Glen S.
- AIKENHEAD Glen S.
- AIKENHEAD Glen S.
- ALMEIDA JÚNIOR João Baptista de
- ARONS A. B.
- AULER Décio
- BAKHTIN Mikhail
- BAKHTIN Mikhail
- BARRA Eduardo Salles O.
- BARROS Susana de Souza
- BAZZO Walter Antônio
- BOURDIEU Pierre
- BROWN Bryan A.
- CACHAPUZ António
- CANIVEZ Patrice
- CHAMPAGNE Audrey B.
- CHASSOT Áttico
- CHASSOT Áttico
- DeBOER George E.
- DRIVER Rosalind
- FLEMING Reg
- FOUREZ Gérard
- GIL-PÉREZ Daniel
- GILBERT John K.
- GRINSPUN Mírian Paura Sabrosa Zippin
- HALLIDAY M. A. K.
- HURD Paul DeHart
- JENKINS Edgar
- JENKINS Edgar
- KNORR-CETINA Karin D.
- KOLSTØ Stein D.
- KRAPAS Sonia
- KRASILCHIK Myriam
- KRASILCHIK Myriam
- KRASILCHIK Myriam
- LATOUR Bruno
- LAUGKSCH Rüdiger C.
- LAYTON David
- LEAL Maria Cristina
- LEODORO Marcos Pires
- LÓPEZ José L. Luján
- MACEDO Beatriz
- MARANDINO Martha
- MATTHEWS Michael. R.
- MATTHEWS Michael. R.
- MEGID NETO Jorge
- MERTON Robert K.
- MILLAR Robin
- MILLER Jon D.
- MORIN Edgar
- MORTIMER Eduardo Fleury
- NASCIMENTO Viviane Briccia do
- NEWTON Paul
- NORRIS Stephen P.
- OGBORN Jon
- OSBORNE Jonathan
- PACEY Arnold
- PEDUZZI Luiz O. Q.
- PREWITT Kenneth
- RADNITZKY Gerard
- RAMSEY John
- RATCLIFFE Mary
- RATCLIFFE Mary
- ROBERTS Douglas A.
- ROTH Wolff.-Michael
- RUBBA Peter
- RYDER Jim
- SANTOS Wildson Luiz Pereira dos
- SANTOS Wildson Luiz Pereira dos
- SANTOS Wildson Luiz Pereira dos
- SHAMOS Morris Herbert
- SHEN Benjamin S. P.
- SJØBERG Svein
- SNOW C. P.
- SOARES Magda
- SOLOMON Joan
- SOLOMON Joan
- STIEFEL Berta Marco
- TEIXEIRA Paulo Marcelo M.
- VARGAS Milton
- WAKS Leonard J.
- WELLINGTON Jerry
- Wildson Luiz Pereira dos Santos
- YAGER Robert
- YAGER Robert E.
- ZEIDLER Dana L.
- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- Field of study
Influence of Pyrene-Based Fluorescent Probes on the Characteristics of DMPA/DMPC Langmuir−Blodgett Films
- Publication venue
- 'American Chemical Society (ACS)'
- Publication date
- Field of study
Post-truth politics and climate denial: further reflections
- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
- …