60 research outputs found
Entropic Uncertainty Relations in Quantum Physics
Uncertainty relations have become the trademark of quantum theory since they
were formulated by Bohr and Heisenberg. This review covers various
generalizations and extensions of the uncertainty relations in quantum theory
that involve the R\'enyi and the Shannon entropies. The advantages of these
entropic uncertainty relations are pointed out and their more direct connection
to the observed phenomena is emphasized. Several remaining open problems are
mentionedComment: 35 pages, review pape
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Bosma arhinia microphthalmia syndrome (BAMS) is an extremely rare and striking condition characterized by complete absence of the nose with or without ocular defects. We report here that missense mutations in the epigenetic regulator SMCHD1 mapping to the extended ATPase domain of the encoded protein cause BAMS in all 14 cases studied. All mutations were de novo where parental DNA was available. Biochemical tests and in vivo assays in Xenopus laevis embryos suggest that these mutations may behave as gain-of-function alleles. This finding is in contrast to the loss-of-function mutations in SMCHD1 that have been associated with facioscapulohumeral muscular dystrophy (FSHD) type 2. Our results establish SMCHD1 as a key player in nasal development and provide biochemical insight into its enzymatic function that may be exploited for development of therapeutics for FSHD
The Potential Of Geomatics In The Realization Of A Map Of Desertification Sensitivity Southern Massif Belezma - Batna - (Algeria)
Desertification is the gradual and sustained reduction in the quantity and quality of the biological productivity of arid and semi-arid
land.
The study area is located in the North Eastern part of Algeria, it has a rich heritage in its biodiversity, however weather conditions
and adverse human reality, induce a degradation of the physical environment in the form of a regression of vegetation cover.
To assess desertification in our study area map of desertification sensitivity is a tool for decision support.
For the realization of this Map we used the ArcGis software applied a methodology which is inspired by the concept MEDALUS
(Mediterranean Desertification and Land Use, 1999) by crossing four thematic layers that may have an impact on the process of
desertification.
The results of Cartography and statistical analysis permit the classification of our region in terms of sensitivity to desertification in
four very important classes. (Not affected, Insensitive, Sensitive and highly sensitive).
More than 69.92% of the surface area were classified sensitive to very sensitive, For against 30.07% is classified in unallocated
insensitive.
Planning restoration work and the fight against desertification are expected to limit the risk of desertification in the study area
perspectives
A Model of Attention and Interest Using Gaze Behavior
One of the major problems of userâs interaction with Embodied Conversational Agents (ECAs) is to have the conversation last more than few second:after being amused and intrigued by the ECAs, users may find rapidly the restrictions and limitations of the dialog systems, they may perceive the repetition of the ECAs animation, they may find the behaviors of ECAs to be inconsistent and implausible, etc. We believe that some special links, or bonds, have to be established between users and ECAs during interaction. It is our view that showing and/or perceiving interest is the necessary premise to establish a relationship. In this paper we present a model of an ECA able to establish, maintain and end the conversation based on its perception of the level of interest of its interlocutor
Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses
Contains fulltext :
208821.pdf (publisher's version ) (Open Access
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