Mutations of the mitochondrial ND1 gene as a cause of MELAS

Copyright © 2004 by the BMJ Publishing Group Ltd. All rights reserved. BMJ JournalsD. M. Kirby, R. McFarland, A. Ohtake, C. Dunning, M. T. Ryan, C. Wilson, D. Ketteridge, D. M. Turnbull, D. R. Thorburn, R. W. Taylo

Biochemical and molecular diagnosis of mitochondrial respiratory chain disorders

AbstractBiochemical diagnosis of mitochondrial respiratory chain disorders requires caution to avoid misdiagnosis of secondary enzyme defects, and can be improved by the use of conservative diagnostic criteria. Pathogenic mutations causing mitochondrial disorders have now been identified in more than 30 mitochondrial DNA (mtDNA) genes encoding respiratory chain subunits, ribosomal- and t-RNAs. mtDNA mutations appear to be responsible for most adult patients with mitochondrial disease and approximately a quarter of paediatric patients. A family history suggesting maternal inheritance is the exception rather than the norm for children with mtDNA mutations, many of whom have de novo mutations. Prenatal diagnosis and pre-implantation genetic diagnosis can be offered to some women at risk of transmitting a mtDNA mutation, particularly those at lower recurrence risk. Mutations in more than 30 nuclear genes, including those encoding for respiratory chain subunits and assembly factors, have now been shown to cause mitochondrial disorders, creating difficulties in prioritising which genes should be studied by mutation analysis in individual patients. A number of approaches offer promise to guide the choice of candidate genes, including Blue Native-PAGE immunoblotting and microarray expression analysis

A novel type of proximity focusing RICH counter with multiple refractive index aerogel radiator

A proximity focusing ring imaging Cherenkov detector, with the radiator consisting of two or more aerogel layers of different refractive indices, has been tested in 1-4 GeV/c pion beams at KEK. Essentially, a multiple refractive index aerogel radiator allows for an increase in Cherenkov photon yield on account of the increase in overall radiator thickness, while avoiding the simultaneous degradation in single photon angular resolution associated with the increased uncertainty of the emission point. With the refractive index of consecutive layers suitably increasing in the downstream direction, one may achieve overlapping of the Cherenkov rings from a single charged particle. In the opposite case of decreasing refractive index, one may obtain well separated rings. In the former combination an approximately 40% increase in photon yield is accompanied with just a minor degradation in single photon angular resolution. The impact of this improvement on the pion/kaon separation at the upgraded Belle detector is discussed.Comment: submitted to Nucl. Instr. Meth.

Recollements of Module Categories

We establish a correspondence between recollements of abelian categories up to equivalence and certain TTF-triples. For a module category we show, moreover, a correspondence with idempotent ideals, recovering a theorem of Jans. Furthermore, we show that a recollement whose terms are module categories is equivalent to one induced by an idempotent element, thus answering a question by Kuhn.Comment: Comments are welcom

TVL₁ Planarity Regularization for 3D Shape Approximation

The modern emergence of automation in many industries has given impetus to extensive research into mobile robotics. Novel perception technologies now enable cars to drive autonomously, tractors to till a field automatically and underwater robots to construct pipelines. An essential requirement to facilitate both perception and autonomous navigation is the analysis of the 3D environment using sensors like laser scanners or stereo cameras. 3D sensors generate a very large number of 3D data points when sampling object shapes within an environment, but crucially do not provide any intrinsic information about the environment which the robots operate within. This work focuses on the fundamental task of 3D shape reconstruction and modelling from 3D point clouds. The novelty lies in the representation of surfaces by algebraic functions having limited support, which enables the extraction of smooth consistent implicit shapes from noisy samples with a heterogeneous density. The minimization of total variation of second differential degree makes it possible to enforce planar surfaces which often occur in man-made environments. Applying the new technique means that less accurate, low-cost 3D sensors can be employed without sacrificing the 3D shape reconstruction accuracy

Spectroscopy of 32Ne and the Island of Inversion

We report on the first spectroscopic study of the N=22 nucleus 32Ne at the newly completed RIKEN Radioactive Ion Beam Factory. A single gamma-ray line with an energy of 722(9) keV was observed in both inelastic scattering of a 226 MeV/u 32Ne beam on a Carbon target and proton removal from 33Na at 245 MeV/u. This transition is assigned to the de-excitation of the first J^pi = 2+ state in 32Ne to the 0+ ground state. Interpreted through comparison with state-of-the-art shell model calculations, the low excitation energy demonstrates that the Island of Inversion extends to at least N=22 for the Ne isotopes.Comment: Accepted for publication in Phys. Rev. Lett. 11 pages, 3 figure

Subnanosecond tunable ultraviolet pulse generation from a low-Q, short-cavity Ce:LiCAF laser

We have developed an all-solid-state tunable ultraviolet laser system employing recently developed Ce:LiCAF, a new degradation-free tunable ultraviolet laser medium pumped by the fourth harmonic of a conventional Q-switched Nd:YAG laser. The low-Q, short-cavity Ce:LiCAF laser produced satellite-free subnanosecond pulses in a tuning range of 281 nm to 297 nm under appropriate pumping-fluence control