10 research outputs found
Holographic Tunneling Wave Function
The Hartle-Hawking wave function in cosmology can be viewed as a decaying
wave function with anti-de Sitter (AdS) boundary conditions. We show that the
growing wave function in AdS familiar from Euclidean AdS/CFT is equivalent,
semiclassically and up to surface terms, to the tunneling wave function in
cosmology. The cosmological measure in the tunneling state is given by the
partition function of certain relevant deformations of CFTs on a locally AdS
boundary. We compute the partition function of finite constant mass
deformations of the O(N) vector model on the round three sphere and show this
qualitatively reproduces the behaviour of the tunneling wave function in
Einstein gravity coupled to a positive cosmological constant and a massive
scalar. We find the amplitudes of inhomogeneities are not damped in the
holographic tunneling state.Comment: 22 pages, 5 figures, Revisions according to the JHEP edito
Genetic landscape of pediatric acute liver failure of indeterminate origin.
BACKGROUND AIMS
Pediatric acute liver failure (PALF) is a life-threatening condition. In Europe, main causes are viral infections (12-16%) and inherited metabolic diseases (14-28%). Yet, in up to 50% of cases the underlying etiology remains elusive, challenging clinical management, including liver transplantation. We systematically studied indeterminate PALF cases referred for genetic evaluation by whole-exome sequencing (WES), and analyzed phenotypic and biochemical markers, and the diagnostic yield of WES in this condition.
METHODS
With this international, multicenter observational study, patients (0-18 y) with indeterminate PALF were analyzed by WES. Data on the clinical and biochemical phenotype were retrieved and systematically analyzed.
RESULTS
In total, 260 indeterminate PALF patients from 19 countries were recruited between 2011 and 2022, of whom 59 had recurrent PALF (RALF). WES established a genetic diagnosis in 37% of cases (97/260). Diagnostic yield was highest in children with PALF in the first year of life (46%), and in children with RALF (64%). Thirty-six distinct disease genes were identified. Defects in NBAS (n=20), MPV17 (n=8) and DGUOK (n=7) were the most frequent findings. When categorizing, most frequent were mitochondrial diseases (45%), disorders of vesicular trafficking (28%) and cytosolic aminoacyl-tRNA synthetase deficiencies (10%). One-third of patients had a fatal outcome. Fifty-six patients received liver transplants.
CONCLUSION
This study elucidates a large contribution of genetic causes in PALF of indeterminate origin with an increasing spectrum of disease entities. The high proportion of diagnosed cases and potential treatment implications argue for exome or in future rapid genome sequencing in PALF diagnostics
Primordial fluctuations from complex AdS saddle points
© 2016, Institute of Physics. All rights reserved. One proposal for dS/CFT is that the Hartle-Hawking (HH) wave function in the large volume limit is equal to the partition function of a Euclidean CFT deformed by various operators. All saddle points defining the semiclassical HH wave function in cosmology have a representation in which their interior geometry is part of a Euclidean AdS domain wall with complex matter fields. We compute the wave functions of scalar and tensor perturbations around homogeneous isotropic complex saddle points, turning on single scalar field matter only. We compare their predictions for the spectra of CMB perturbations with those of a different dS/CFT proposal based on the analytic continuation of inflationary universes to real asymptotically AdS domain walls. We find the predictions of both bulk calculations agree to first order in the slow roll parameters, but there is a difference at higher order which, we argue, is a signature of the HH state of the fluctuations.28 pages, 6 figures, journal version, minor correctionsstatus: publishe
Holographic tunneling wave function
© 2015, The Author(s). Abstract: The Hartle-Hawking wave function in cosmology can be viewed as a decaying wave function with anti-de Sitter (AdS) boundary conditions. We show that the growing wave function in AdS familiar from Euclidean AdS/CFT is equivalent, semiclassically and up to surface terms, to the tunneling wave function in cosmology. The cosmological measure in the tunneling state is given by the partition function of certain relevant deformations of CFTs on a locally AdS boundary. We compute the partition function of finite constant mass deformations of the O(N) vector model on the round three sphere and show this qualitatively reproduces the behaviour of the tunneling wave function in Einstein gravity coupled to a positive cosmological constant and a massive scalar. We find the amplitudes of inhomogeneities are not damped in the holographic tunneling state.22 pages, 5 figures, Revisions according to the JHEP editorstatus: publishe
Domain walls inside localised orientifolds
© 2015, The Author(s). Abstract: The equations of motion of toroidal orientifold compactifications with fluxes are in one-to-one correspondence with gauged supergravity if the orientifold (and D-brane) sources are smeared over the compact space. This smeared limit is identical to the approximation that ignores warping. It is therefore relevant to compare quantities obtained from the gauged supergravity with the true 10d solution with localised sources. In this paper we find the correspondence between BPS domain walls in gauged SUGRA and 10D SUGRA with localised sources. Our model is the simplest orientifold with fluxes we are aware of: an O6/D6 compactification on T3/ℤ2 in massive IIA with H3-flux. The BPS domain walls correspond to a O6/D6/NS5/D8 bound state. Our analysis reveals that the domain wall energy computed in gauged SUGRA is unaffected by the localisation of the O6/D6 sources.status: publishe
Basisdocument Nitraat
Dit rapport is de engelse versie van rapport 75843007. Bij dit rapport hoort een bijlage, getiteld: Appendix to report no. 758473012<br>Dit rapport bevat een systematisch overzicht en een kritische evaluatie van de belangrijkste gegevens over de prioritaire stof nitraat ten behoeve van het milieubeleid.DGM/SR /Cornet J
Integrated Criteria Document Nitrate
Separaat verschenen bijlage: Appendix Integrated Criteria Document Nitrate, Effects. Met rapportnummer 758473007. Onder nummer 758473012 is de engelse versie van dit rapport verschenen.<br>Dit rapport bevat een systematisch overzicht en een kritische evaluatie van de belangrijkste gegevens over de prioritaire stof nitraat ten behoeve van het milieubeleid.DGMH/SRCornet JP