The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

Recently, we defined a new syndromic form of X-linked mental retardation in a 4-generation family with a unique clinical phenotype characterized by mild mental retardation, choreoathetosis, and abnormal behavior (MRXS10). Linkage analysis in this family revealed a candidate region of 13.4 Mb between markers DXS1201 and DXS991 on Xp11; therefore, mutation analysis was performed by direct sequencing in most of the 135 annotated genes located in the region. The gene (HADH2) encoding L-3-hydroxyacyl-CoA dehydrogenase II displayed a sequence alteration (c.574 C-->A; p.R192R) in all patients and carrier females that was absent in unaffected male family members and could not be found in 2,500 control X chromosomes, including in those of 500 healthy males. The silent C-->A substitution is located in exon 5 and was shown by western blot to reduce the amount of HADH2 protein by 60%-70% in the patient. Quantitative in vivo and in vitro expression studies revealed a ratio of splicing transcript amounts different from those normally seen in controls. Apparently, the reduced expression of the wild-type fragment, which results in the decreased protein expression, rather than the increased amount of aberrant splicing fragments of the HADH2 gene, is pathogenic. Our data therefore strongly suggest that reduced expression of the HADH2 protein causes MRXS10, a phenotype different from that caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, which is a neurodegenerative disorder caused by missense mutations in this multifunctional protein.

Permutation polynomials of the form (xp −x +δ)s +L(x)

Recently, several classes of permutation polynomials of the form (x2 + x + δ)s + x over F2m have been discovered. They are related to Kloosterman sums. In this paper, the permutation behavior of polynomials of the form (xp − x + δ)s + L(x) over Fpm is investigated, where L(x) is a linearized polynomial with coefficients in Fp. Six classes of permutation polynomials on F2m are derived. Three classes of permutation polynomials over F3m are also presented.

Factors affecting the extraction of absorbed dose information in a 3D polymer gel dosimeter by X ray computed tomography (IAEA-CN-96/122P)

Two sources of uncertainty in the X ray computed tomography imaging of polymer gel dosimeters are investigated in the paper.The first cause is a change in postirradiation density, which is proportional to the computed tomography signal and is associated with a volume change. The second cause of uncertainty is reconstruction noise.A simple technique that increases the residual signal to noise ratio by almost two orders of magnitude is examined.

Nanostructured high strength Mg-5%Al-x%Nd alloys prepared by mechanical alloying

Nanostructured high strength Mg-5%Al-x%Nd alloys were prepared by mechanical alloying. Microstructural characterization reveled average crystalline size to be about 30 nm after mechanical alloying while it increased to about 90 nm after sintering and extrusion. Mechanical properties showed increase in 0.2% yield stress, ultimate tensile strength was attributed to reduction in gain size as well as to the enhanced diffusion after mechanical activation. Although ultra high yield stress was observed from the specimen with 5% Nd, its ductility was reduced to about 1.6%.

Small angle X-ray scattering mapping and kinetics study of sub-critical CO2 sorption by two Australian coals

Time- and position-resolved synchrotron small angle X-ray scattering data were acquired from samples of two Australian coal seams: Bulli seam (Bulli 4, Ro=1.42%, Sydney Basin), which naturally contains CO2 and Baralaba seam (Ro=0.67%, Bowen Basin), a potential candidate for sequestering CO2. This experimental approach has provided unique, pore-size-specific insights into the kinetics of CO2 sorption in the micro- and small mesopores (diameter 5 to 175 Å) and the density of the sorbed CO2 at reservoir-like conditions of temperature and hydrostatic pressure. For both samples, at pressures above 5 bar, the density of CO2 confined in pores was found to be uniform, with no densification in near-wall regions. In the Bulli 4 sample, CO2 first flooded the slit pores between polyaromatic sheets. In the pore-size range analysed, the confined CO2 density was close to that of the free CO2. The kinetics data are too noisy for reliable quantitative analysis, but qualitatively indicate faster kinetics in mineral-matter-rich regions. In the Baralaba sample, CO2 preferentially invaded the smallest micropores and the confined CO2 density was up to five times that of the free CO2. Faster CO2 sorption kinetics was found to be correlated with higher mineral matter content but, the mineral-matter-rich regions had lower-density CO2 confined in their pores. Remarkably, the kinetics was pore-size dependent, being faster for smaller pores. These results suggest that injection into the permeable section of an interbedded coal-clastic sequence could provide a viable combination of reasonable injectivity and high sorption capacity.

RNA interference silencing of CHS greatly alters the growth pattern of apple (Malus x domestica)

Plants produce a vast array of phenolic compounds which are essential for their survival on land. One major class of polyphenols are the flavonoids and their formation is dependent on the enzyme chalcone synthase (CHS). In a recent study we silenced the CHS genes of apple (Malus × domestica Borkh.) and observed a loss of pigmentation in the fruit skin, flowers and stems. More surprisingly, highly silenced lines were significantly reduced in size, with small leaves and shortened internode lengths. Chemical analysis also revealed that the transgenic shoots contained greatly reduced concentrations of flavonoids which are known to modulate auxin flow. An auxin transport study verified this, with an increased auxin transport in the CHS-silenced lines. Overall, these findings suggest that auxin transport in apple has adapted to take place in the presence of high endogenous concentrations of flavonoids. Removal of these compounds therefore results in abnormal auxin movement and a highly disrupted growth pattern. © 2013 Landes Bioscience.

Surface dosimetry for very small X-ray beams

Introduction The dose to skin surface is an important factor for many radiotherapy treatment techniques. It is known that TPS predicted surface doses can be significantly different from actual ICRP skin doses as defined at 70 lm. A number of methods have been implemented for the accurate determination of surface dose including use of specific dosimeters such as TLDs and radiochromic film as well as Monte Carlo calculations. Stereotactic radiosurgery involves delivering very high doses per treatment fraction using small X-ray fields. To date, there has been limited data on surface doses for these very small field sizes. The purpose of this work is to evaluate surface doses by both measurements and Monte Carlo calculations for very small field sizes. Methods All measurements were performed on a Novalis Tx linear accelerator which has a 6 MV SRS X-ray beam mode which uses a specially thin flattening filter. Beam collimation was achieved by circular cones with apertures that gave field sizes ranging from 4 to 30 mm at the isocentre. The relative surface doses were measured using Gafchromic EBT3 film which has the active layer at a depth similar to the ICRP skin dose depth. Monte Carlo calculations were performed using the BEAMnrc/EGSnrc Monte Carlo codes (V4 r225). The specifications of the linear accelerator, including the collimator, were provided by the manufacturer. Optimisation of the incident X-ray beam was achieved by an iterative adjustment of the energy, spatial distribution and radial spread of the incident electron beam striking the target. The energy cutoff parameters were PCUT = 0.01 MeV and ECUT = 0.700 - MeV. Directional bremsstrahlung splitting was switched on for all BEAMnrc calculations. Relative surface doses were determined in a layer defined in a water phantom of the same thickness and depth as compared to the active later in the film. Results Measured surface doses using the EBT3 film varied between 13 and 16 % for the different cones with an uncertainty of 3 %. Monte Carlo calculated surface doses were in agreement to better than 2 % to the measured doses for all the treatment cones. Discussion and conclusions This work has shown the consistency of surface dose measurements using EBT3 film with Monte Carlo predicted values within the uncertainty of the measurements. As such, EBT3 film is recommended for in vivo surface dose measurements.

Polarized infrared absorption spectrum of matrix-isolated methylperoxyl radicals, CH3OO (X)over-tilde 2A ''

We have used a tandem pair of supersonic nozzles to produce clean samples of CH3OO radicals in cryogenic matrices. One hyperthermal nozzle decomposes azomethane (CH3NNCH3) to generate intense pulses of CH3 radicals, While the second nozzle alternately fires a burst Of O-2/Ar at the 20 K matrix. The CH3/O-2/20 K argon radical sandwich acts to produce target methylperoxyl radicals: CH3 + O-2 --> CH3OO. The absorption spectra of the radicals are monitored with a Fourier transform infrared spectrometer. We report 10 of the 12 fundamental infrared bands of the methylperoxyl radical CH3OO, (X) over tilde (2)A", in an argon matrix at 20 K. The experimental frequencies (cm(-1)) and polarizations follow: the a' modes are 3032, 2957, 1448, 1410, 1180, 1109, 90, 492, while the a" modes are 3024 and 1434. We cannot detect the asymmetric CH3 rocking mode, nu(11), nor the torsion, nu(12). The infrared spectra of (CH3OO)-O-18-O-18, (CH3OO)-C-13, and CD3OO have been measured as well in order to determine the isotopic shifts. The experimental frequencies, {nu}, for the methylperoxyl radicals are compared to harmonic frequencies, {omega}, resulting from a UB3LYP/6-311G(d,p) electronic structure calculation. Linear dichroism spectra were measured with photooriented radical samples in order to establish the experimental polarizations of most vibrational bands. The methylperoxyl radical matrix frequencies listed above are within +/-2% of the gas-phase vibrational frequencies. A final set of vibrational frequencies for the H radical, are recommended. See also http://ellison.colorado.edu/methylperoxyl.

A mass spectrometry study of XCO+, X = Si, Ge : Is SiCO+ a main group carbonyl? Comments on the bonding in ground state SiCO and the Si,C,O (+) potential energy surface

The cation\[Si,C,O](+) has been generated by 1) the electron ionisation (EI) of tetramethoxysilane and 2) chemical ionisation (CI) of a mixture of silane and carbon monoxide. Collisional activation (CA) experiments performed for mass-selected \[Si,C,O](+), generated by using both methods, indicate that the structure is not inserted OSiC+; however, a definitive structural assignment as Si+-CO, Si+-OC or some cyclic variant is impossible based on these results alone. Neutralisation-reionisation (+NR+) experiments for EI-generated \[Si,C,O](+) reveal a small peak corresponding to SiC+, but no detectable SiO+ signal, and thus establishes the existence of the Si+-CO isomer. CCSD(T)//B3LYP calculations employing a triple-zeta basis set have been used to explore the doublet and quartet potential-energy surfaces of the cation, as well as some important neutral states The results suggest that both Si+-CO and Si+ - OC isomers are feasible; however, the global minimum is (2)Pi SiCO+. Isomeric (2)Pi SiOC+ is 12.1 kcal mol(-1) less stable than (2)Pi SiCO+, and all quartet isomers are much higher in energy. The corresponding neutrals Si-CO and Si-OC are also feasible, but the lowest energy Si - OC isomer ((3)A") is bound by only 1.5 kcal mol(-1). We attribute most, if nor all, of the recovery signal in the +NR' experiment to SiCO+ survivor ions. The nature of the bonding in the lowest energy isomers of Si+ -(CO,OC) is interpreted with the aid of natural bond order analyses, and the ground stale bonding of SiCO+ is discussed in relation to classical analogues such as metal carbonyls and ketenes.

Microplasma-chemical synthesis and tunable real-time plasmonic responses of alloyed Aux Ag1−x nanoparticles

Tunable synthesis of bimetallic AuxAg1-x alloyed nanoparticles and in situ monitoring of their plasmonic responses is presented. This is a new conceptual approach based on green and energy efficient, reactive, and highly-non-equilibrium microplasma chemistry.

An investigation of goethite-seeded Al(OH)3 precipitation using in situ X-ray diffraction and Rietveld-based quantitative phase analysis

An in situ X-ray diffraction investigation of goethite-seeded Al(OH)3 precipitation from synthetic Bayer liquor at 343 K has been performed. The presence of iron oxides and oxyhydroxides in the Bayer process has implications for alumina reversion, which causes significant process losses through unwanted gibbsite precipitation, and is also relevant for the nucleation and growth of scale on mild steel process equipment. The gibbsite, bayerite and nordstrandite polymorphs of Al(OH)3 precipitated from the liquor; gibbsite appeared to precipitate first, with subsequent formation of bayerite and nordstrandite. A Rietveld-based approach to quantitative phase analysis was implemented for the determination of absolute phase abundances as a function of time, from which kinetic information for the formation of the Al(OH)3 phases was determined.

Visible photoluminescence from plasma-synthesized SiO 2-buffered SiN x films : effect of film thickness and annealing temperature

The effect of the film thickness and postannealing temperature on visible photoluminescence (PL) from Si Nx films synthesized by plasma-assisted radio frequency magnetron sputtering on Si O2 buffer layers is investigated. It is shown that strong visible PL is achieved at annealing temperatures above 650 °C. The optimum annealing temperature for the maximum PL yield strongly depends on the film thickness and varies from 800 to 1200°C. A comparative composition-structure-property analysis reveals that the PL intensity is directly related to the content of the Si-O and Si-N bonds in the Si Nx films. Therefore, sufficient oxidation and moderate nitridation of Si Nx Si O2 films during the plasma-based growth process are crucial for a strong PL yield. Excessively high annealing temperatures lead to weakened Si-N bonds in thinner Si Nx films, which eventually results in a lower PL intensity.

Assessment of body composition in Indian adults: comparison between dual-energy X-ray absorptiometry and isotope dilution technique

Dual-energy X-ray absorptiometry (DXA) and isotope dilution technique have been used as reference methods to validate the estimates of body composition by simple field techniques; however, very few studies have compared these two methods. We compared the estimates of body composition by DXA and isotope dilution (18O) technique in apparently healthy Indian men and women (aged 19–70 years, n 152, 48 % men) with a wide range of BMI (14–40 kg/m2). Isotopic enrichment was assessed by isotope ratio mass spectroscopy. The agreement between the estimates of body composition measured by the two techniques was assessed by the Bland–Altman method. The mean age and BMI were 37 (SD 15) years and 23·3 (SD 5·1) kg/m2, respectively, for men and 37 (SD 14) years and 24·1 (SD 5·8) kg/m2, respectively, for women. The estimates of fat-free mass were higher by about 7 (95 % CI 6, 9) %, those of fat mass were lower by about 21 (95 % CI 218,223) %, and those of body fat percentage (BF%) were lower by about 7·4 (95 % CI 28·2, 26·6) % as obtained by DXA compared with the isotope dilution technique. The Bland–Altman analysis showed wide limits of agreement that indicated poor agreement between the methods. The bias in the estimates of BF% was higher at the lower values of BF%. Thus, the two commonly used reference methods showed substantial differences in the estimates of body composition with wide limits of agreement. As the estimates of body composition are method-dependent, the two methods cannot be used interchangeably

Analysis of ancient pottery and ceramic objects using X-ray fluorescence spectrometry

Archaeology has been called 'the science of the artefact' and nothing demonstrates this point better than the current interest displayed in provenance studies of archaeological objects. In theory, every vessel carries a chemical compositional pattern or 'fingerprint' identical with the clay from which it was made and this relationship is basic to provenance studies. The reasoning behind provenance or sourcing studies is to probe into this past and attempt to re-create prehistory by obtaining information on exchange and social interaction. This paper discusses the use of XRF spectrometry for the analysis of ancient pottery and ceramics to examine whether it is possible to predict prehictoric cultural exchanges.

Assessment of the effects of CT dose in averaged x-ray CT images of a dose-sensitive polymer gel

The signal-to-noise ratio achievable in x-ray computed tomography (CT) images of polymer gels can be increased by averaging over multiple scans of each sample. However, repeated scanning delivers a small additional dose to the gel which may compromise the accuracy of the dose measurement. In this study, a NIPAM-based polymer gel was irradiated and then CT scanned 25 times, with the resulting data used to derive an averaged image and a "zero-scan" image of the gel. Comparison between these two results and the first scan of the gel showed that the averaged and zero-scan images provided better contrast, higher contrast-to- noise and higher signal-to-noise than the initial scan. The pixel values (Hounsfield units, HU) in the averaged image were not noticeably elevated, compared to the zero-scan result and the gradients used in the linear extrapolation of the zero-scan images were small and symmetrically distributed around zero. These results indicate that the averaged image was not artificially lightened by the small, additional dose delivered during CT scanning. This work demonstrates the broader usefulness of the zero-scan method as a means to verify the dosimetric accuracy of gel images derived from averaged x-ray CT data.