204 research outputs found
Effects of surface vibrations on interlayer mass-transport: ab initio molecular dynamics investigation of Ti adatom descent pathways and rates from TiN/TiN(001) islands
We carry out density-functional ab initio molecular dynamics (AIMD)
simulations of Ti adatom (Tiad) migration on, and descent from, TiN
-faceted epitaxial islands on TiN(001) at temperatures T ranging from 1200
to 2400 K. Adatom-descent energy-barriers determined via ab initio
nudged-elastic-band calculations at 0 Kelvin suggest that Ti interlayer
transport on TiN(001) occurs essentially exclusively via direct hopping onto a
lower layer. However, AIMD simulations reveal comparable rates for Tiad descent
via direct-hopping vs. push-out/exchange with a Ti island edge atom for T >=
1500 K. We demonstrate that the effect is due to surface vibrations, which
yield considerably lower activation energies at finite temperatures by
significantly modifying the adatom push/out-exchange reaction pathway.Comment: 13 Figure
Phase Diagram of Multilayer Magnetic Structures
Multilayer "ferromagnet-layered antiferromagnet" (Fe/Cr) structures
frustrated due to the roughness of layer interfaces are studied by numerical
modeling methods. The "thickness-roughness" phase diagrams for the case of thin
ferromagnetic film on the surface of bulk antiferromagnet and for two
ferromagnetic layers separated by an antiferromagnetic interlayer are obtained
and the order parameter distributions for all phases are found. The phase
transitions nature in such systems is considered. The range of applicability
for the "magnetic proximity model" proposed by Slonczewski is evaluated.Comment: 8 pages, 8 figure
Theoretical investigations of a highly mismatched interface: the case of SiC/Si(001)
Using first principles, classical potentials, and elasticity theory, we
investigated the structure of a semiconductor/semiconductor interface with a
high lattice mismatch, SiC/Si(001). Among several tested possible
configurations, a heterostructure with (i) a misfit dislocation network pinned
at the interface and (ii) reconstructed dislocation cores with a carbon
substoichiometry is found to be the most stable one. The importance of the slab
approximation in first-principles calculations is discussed and estimated by
combining classical potential techniques and elasticity theory. For the most
stable configuration, an estimate of the interface energy is given. Finally,
the electronic structure is investigated and discussed in relation with the
dislocation array structure. Interface states, localized in the heterostructure
gap and located on dislocation cores, are identified
Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination
Background and purpose
Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi‐allelic mutations in NKX6‐2 were recently linked to spastic ataxia 8 with hypomyelinating leukodystrophy.
Methods
Using a combination of homozygosity mapping, exome sequencing, and detailed clinical and neuroimaging assessment a series of new NKX6‐2 mutations in a multicentre setting is described. Then, all reported NKX6‐2 mutations and those identified in this study were combined and an in‐depth analysis of NKX6‐2‐related disease spectrum was provided.
Results
Eleven new cases from eight families of different ethnic backgrounds carrying compound heterozygous and homozygous pathogenic variants in NKX6‐2 were identified, evidencing a high NKX6‐2 mutation burden in the hypomyelinating leukodystrophy disease spectrum. Our data reveal a phenotype spectrum with neonatal onset, global psychomotor delay and worse prognosis at the severe end and a childhood onset with mainly motor phenotype at the milder end. The phenotypic and neuroimaging expression in NKX6‐2 is described and it is shown that phenotypes with epilepsy in the absence of overt hypomyelination and diffuse hypomyelination without seizures can occur.
Conclusions
NKX6‐2 mutations should be considered in patients with autosomal recessive, very early onset of nystagmus, cerebellar ataxia with hypotonia that rapidly progresses to spasticity, particularly when associated with neuroimaging signs of hypomyelination. Therefore, it is recommended that NXK6‐2 should be included in hypomyelinating leukodystrophy and spastic ataxia diagnostic panels
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