78 research outputs found
Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism
- Author
- Angela E Scheuerle
- B Parfait
- D Bonnet
- D Figarella-Branger
- D Rabier
- D Sternberg
- DA Drachman
- Dawna L Armstrong
- DC Wallace
- F Biard
- F Scaglia
- Fernando Scaglia
- H Ibel
- HR Scholte
- IJ Holt
- J-C Von Kleist-Retzow
- J-W Hou
- J-W Hou
- Jeffrey A Towbin
- JF Glasgow
- JM Shoffner
- JR Bonham
- KM Gibson
- KM Gibson
- L-JC Wong
- Lawrence Sweetman
- Lee-Jun C Wong
- M Hirano
- M-H Liang
- M-H Liang
- ON Elpeleg
- P Corona
- PA Srere
- PF Chinnery
- RA Berenberg
- RI Kelley
- S Bione
- Sim KG
- SV Pande
- T Yonetan
- TE King
- TE King
- WR Treem
- Y Anikster
- Publication venue
- BioMed Central
- Publication date
- 01/12/2002
- Field of study
BACKGROUND: Hyperammonemia, hypoglycemia, hepatopathy, and ventricular tachycardia are common presenting features of carnitine-acylcarnitine translocase deficiency (Mendelian Inheritance in Man database: *212138), a mitochondrial fatty acid oxidation disorder with a lethal prognosis. These features have not been identified as the presenting features of mitochondrial cytopathy in the neonatal period. CASE PRESENTATION: We describe an atypical presentation of mitochondrial cytopathy in a 2 day-old neonate. She presented with a Reye-like syndrome episode, premature ventricular contractions and ventricular tachycardia. Initial laboratory evaluation exhibited a large amount of 3-methylglutaconic acid on urine organic acid analysis, mild orotic aciduria and a nonspecific abnormal acylcarnitine profile. The evaluation for carnitine-acylcarnitine translocase deficiency and other fatty acid oxidation disorders was negative. The patient later developed a hypertrophic cardiomyopathy and continued to be affected by recurrent Reye-like syndrome episodes triggered by infections. A muscle biopsy exhibited signs of a mitochondrial cytopathy. During the course of her disease, her Reye-like syndrome episodes have subsided; however, cardiomyopathy has persisted along with fatigue and exercise intolerance. CONCLUSIONS: This case illustrates that, in the neonatal period, hyperammonemia and ventricular tachycardia may be the presenting features of a lethal carnitine-acylcarnitine translocase deficiency or of a mitochondrial cytopathy, associated with a milder clinical course. This association broadens the spectrum of presenting phenotypes observed in patients with disturbed mitochondrial energy metabolism. Also, the presence of 3-methylglutaconic aciduria suggests mitochondrial dysfunction and mild orotic aciduria could potentially be used as a marker of mitochondrial disease
On the mechanisms governing gas penetration into a tokamak plasma during a massive gas injection
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- Zoita V.
- Zoletnik and I Zychor S. Zoletnik and I. Zychor
- Publication venue
- 'IOP Publishing'
- Publication date
- 09/11/2016
- Field of study
A new 1D radial fluid code, IMAGINE, is used to simulate the penetration of gas into a tokamak plasma during a massive gas injection (MGI). The main result is that the gas is in general strongly braked as it reaches the plasma, due to mechanisms related to charge exchange and (to a smaller extent) recombination. As a result, only a fraction of the gas penetrates into the plasma. Also, a shock wave is created in the gas which propagates away from the plasma, braking and compressing the incoming gas. Simulation results are quantitatively consistent, at least in terms of orders of magnitude, with experimental data for a D 2 MGI into a JET Ohmic plasma. Simulations of MGI into the background plasma surrounding a runaway electron beam show that if the background electron density is too high, the gas may not penetrate, suggesting a possible explanation for the recent results of Reux et al in JET (2015 Nucl. Fusion 55 093013)
Search for Higgs Boson Pair Production in the Four b Quark Final State in Proton-Proton Collisions at root s=13 TeV
- Author
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- Wardle N
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- Yusli M
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- Zhizhin I
- Zhokin A
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- Ziemons T
- Zoi I
- Zolkapli Z
- Zorbakir I
- Zorbilmez C
- Zotto P
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- Zou D
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- Zucchetta A
- Zumerle G
- Zuo X
- Zuolo D
- Zygala L
- Ălvarez CR
- Ăzçelik Ă
- Publication venue
- Publication date
- 01/01/2022
- Field of study
Search for invisible decays of the Higgs boson produced via vector boson fusion in proton-proton collisions at root s=13 TeV
- Author
- Aarrestad T
- Abbaneo D
- Abbiendi G
- Abbrescia M
- Abdelalim A
- Abdullin S
- Abercrombie D
- Abreu A
- Acharya H
- Acosta D
- Acosta HE
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- Ălvarez CR
- Ăzçelik Ă
- Publication venue
- Publication date
- 01/01/2022
- Field of study
Protected areas act as establishment centres for species colonizing the UK
- Author
- Publication venue
- 'The Royal Society'
- Publication date
- Field of study
Composition and structure of synaptic ectosomes exporting antigen receptor linked to functional CD40 ligand from helper T-cells
- Author
- Publication venue
- 'eLife Sciences Publications, Ltd'
- Publication date
- 01/01/2019
- Field of study
Planar supported lipid bilayers (PSLBs) presenting T cell receptor (TCR) ligands and ICAM-1 induce budding of extracellular microvesicles enriched in functional TCR, defined here as synaptic ectosomes (SE), from helper T cells. SE bind peptide-MHC directly exporting TCR into the synaptic cleft, but incorporation of other effectors is unknown. Here, we utilized bead supported lipid bilayers (BSLB) to capture SE from single immunological synapses (IS), determined SE composition by immunofluorescence flow cytometry and enriched SE for proteomic analysis by particle sorting. We demonstrate selective enrichment of CD40L and ICOS in SE in response to addition of CD40 and ICOSL, respectively, to SLB presenting TCR ligands and ICAM-1. SE are enriched in tetraspanins, BST-2, TCR signalling and ESCRT proteins. Super-resolution microscopy demonstrated that CD40L is present in microclusters within CD81 defined SE that are spatially segregated from TCR/ICOS/BST-2. CD40L+ SE retain the capacity to induce dendritic cell maturation and cytokine production
Protected areas in Chile: are we managing them?
- Author
- A Waldron
- Ana N. Campoy
- C Jorquera-Jaramillo
- CA Bonham
- Carlos F. Gaymer
- D Juffe-Bignoli
- DA Gill
- F Leverington
- F Squeo
- Francisco A. Squeo
- GMN Islam
- H Govan
- Ignacio J. Petit
- L Coad
- M Pascual
- Maria-Jose Hevia
- MI Batista
- N Lewis
- N Myers
- P Leenhardt
- PF CĂĄrcamo
- PJS Jones
- R Hilborn
- R Margules
- RJ Toonen
- S Rocliffe
- SL Mahajan
- SL Saout
- TA Wilhelm
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Selenium Deficiency Downregulates Selenoproteins and Suppresses Immune Function in Chicken Thymus
- Author
- A Lescure
- A Rabinovitch
- AC Pappas
- BN Hangalapura
- C Andres de
- C Liu
- CC Lee
- Chunpeng Liu
- CP Liu
- CX Wang
- DM Hinton
- FQ Zhao
- GM Pighetti
- GV Kryukov
- H Yao
- HD Yao
- HD Yao
- HD Yao
- HY Yeh
- J Loflin
- J Zeng
- KH Kim
- L Kiremidjian-Schumacher
- L Kiremidjian-Schumacher
- L You
- LL Liu
- M Bonham
- M Crhanova
- M Mariotti
- MG Netea
- P Ye
- PA Sheridan
- Pervez Ahmed Khoso
- PF Sheng
- PR Hoffmann
- PR Hoffmann
- R Brigelius-Flohe
- RA Sunde
- RJ Simpson
- Shu Li
- SL Lin
- TS Olson
- X Peng
- X Zhao
- Y Li
- Y Liang
- Y Ye
- Z Huang
- Zijiang Yang
- ZW Zhang
- ZW Zhang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Metal detoxification and homeostasis in Antarctic Notothenioids. A comparative survey on evolution, expression and functional properties of fish and mammal metallothioneins
- Author
- A Auf der Maur
- A Munoz
- A Munoz
- AH Robbins
- BJ Murphy
- C Blaise
- C Capasso
- C Capasso
- C Capasso
- C Capasso
- C Seguin
- CD Klaassen
- CH Yan
- CH Yan
- CJ Marshall
- D Knapen
- DJ Thiele
- E Brugnera
- E Cocca
- EJ Kelly
- F Dondero
- GK Andrews
- H Rupp
- H Willner
- HJ You
- HW Ren
- J Imbert
- J Liu
- J Wright
- JHR Kagi
- JR Lakowicz
- JT Eastman
- K Bonham
- K Zangger
- KL Huber
- KM Chan
- L Bargelloni
- L Bargelloni
- L Cai
- LJ Jiang
- M Karin
- M Kondoh
- M Nemer
- M Pauwels
- M Riggio
- M Sato
- MD Rosenthal
- MH Vasconcelos
- MJ Rodriguez-Ortega
- MP Cajaraville
- MT Salgado
- MV Kumari
- N Nishimura
- N Romero-Isart
- PF Searle
- PK Pan
- R Dallinger
- R Dallinger
- R Scudiero
- R Scudiero
- R Scudiero
- R Scudiero
- R Scudiero
- RL Friedman
- S DâAuria
- S Koizumi
- S Mididoddi
- SL Samson
- SS Narula
- TP Dalton
- U Varshney
- V Carginale
- V Carginale
- VC Culotta
- WY Chen
- Y Uchida
- Y Wang
- Y Wang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2007
- Field of study
A data description model for reusing, sharing and integrating geo-analysis models
- Author
- A Aydi
- A Gunay
- A Kalyanpur
- A Maedche
- A Mailhot
- A Todorova
- A Voinov
- AN Rousseau
- BA DeVantier
- C Hill
- C Hillyer
- D Arctur
- Di Hu
- EC Ramalho
- FC Conde
- FJ Rich
- Fred GR Watson
- Fu Zhang
- G Bonham-Carter
- G Guariso
- GD Burdun
- GH Leavesley
- GN Lu
- GP Yal
- GR Davies Evan
- Guonian Lu
- H Knublauch
- H Lin
- H Lin
- H Lin
- H Shao
- HS He
- I BagdanaviÄiĆ«tÄ
- J Gray
- JC Warner
- JM Dennis
- K Liu
- LR Ahuja
- M Aminu
- M Blind
- M Chen
- M Chen
- M Reed
- M Uyan
- MA Parsons
- MC Serreze
- MG Albanesi
- Min Chen
- MK Ittersum Van
- MT Jabbar
- P Basnyat
- PF Hudak
- RE Dickinson
- RM Argent
- RM Argent
- RM Argent
- RS Bivand
- RT Pascoe
- RV Moore
- S Rahimi
- S Selvam
- S Tung
- S Valcke
- SM Sadat-Noori
- Songshan Yue
- T Maxwell
- T Maxwell
- T Weithöner
- TR Gruber
- W Britz
- Y Wen
- Yongning Wen
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
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