[Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene].

OBJECTIVE: To explore the clinical and genetic characteristics of a child with spinocerebellar ataxia type 29 (SCA29) due to novel variant of the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene. METHODS: The child was subjected high-throughput sequencing, and candidate variant was verified by Sanger sequencing of his family members. RESULTS: The child was found to harbor a c.800C>T (p.T267M) variant of the ITPR1 gene, which was not found in his parents and their fetus. The variant has occurred in a hotspot of the ITPR1 gene variants and was unreported before in China. Based on his clinical and genetic characteristics, the child was diagnosed with SCA29. CONCLUSION: The novel heterozygous c.800C>T (p.T267M) of the ITPR1 gene probably underlay the SCA29 in this child.

[Clinical features and genetics analysis of a Chinese pedigree affected with developmental and epileptic encephalopathy 9].

OBJECTIVE: To analyze the clinical and genetic characteristics of a Chinese pedigree affected with developmental and epileptic encephalopathy 9. METHODS: N048: epilepsy full version gene detection panel-V2 and genome wide copy number variation analysis were carried out on the genomic DNA extracted from the peripheral blood samples. Amniotic fluid was also sampled for single nucleoticle polymorphism array (SNP-array) analysis. RESULTS: Both the mother and her daughter were found to have loss of heterozygosity at Xq21.31q22.1, with which exons of protocadherin 19 (PCDH19) gene was deleted. SNP-array showed the fetus to be a female and had arr[hg19]Xq21.31q22.1 (89 558 626-99 701 006)x1. The mother, daughter and fetus of this family all had developmental and epileptic encephalopathy 9. CONCLUSION: Variant of the PCDH19 gene probably underlay the Developmental and epileptic encephalopathy 9 in this pedigree.

Optical image processing for synthetic-aperture imaging ladar based on two-dimensional Fourier transform.

A two-dimensional (2D) Fourier transform algorithm for the image reconstruction of synthetic-aperture imaging ladar (SAIL) collected data is suggested. This algorithm consists of quadratic phase compensation in azimuth direction and 2D fast Fourier transform. Based on this algorithm and the parallel 2D Fourier transform capability of spherical lens, an optical principle scheme that processes the SAIL data is proposed. The basic principle, design equations, and necessary analysis are presented. To verify this principle scheme, an experimental optical SAIL processor setup is constructed. The imaging results of SAIL data obtained by our SAIL demonstrator are presented. The optical processor is compact, lightweight, and consumes low power. This optical processor can also provide inherent parallel and speed-of-light computing capability, and thus has potential applications in on-board and satellite-borne SAIL systems.

Performance analysis of pupil-matching optical differential receivers in space-to-ground laser communication.

In the paper, the principle and structure of a pupil-matching optical differential receiver consisting of double 4f confocal lens groups is introduced to overcome atmosphere turbulences in space-to-ground laser communication. Using the scalar diffraction theory, a systematic analysis of 4f lens groups is formulated mathematically. Based on Seidel aberration, lens aberrations produced by the inherent unideal lens and mutual alignment errors of double 4f lens groups primarily caused by relative axial displacement of the foci and vertical position change of the optical axes are studied mathematically and detailed. Under the effects of varying aberrations on the double 4f lens groups, we evaluate the performance of this receiving system by the model of power penalty for a given 10(-9) bit error ratio. Simulated results of the relationship between power penalty and the different root-mean-square errors are concluded in order to put forward the requirement of machining precision of individual components. That will be helpful in optimizing the design of these groups in the optical receiver.

Design and sub-beam phase measurement of Dammann grating with three-phase array output.

An improved type of Dammann grating (DG) that could generate an equal-intensity spot array which has only three phases is proposed. Numerical solutions of 1×4 and 1×5 such DGs are given. A 4×4 two-phase DG manufactured by very-large-scale integration (VLSI) techniques is presented. A phase-shift-interferometry-based technique that measures the intensity and sub-beam phases of beam splitting gratings is proposed. The performance measurements of the manufactured 4×4 two-phase DG using the proposed technique is carried out.

Optimal recording wavelength for maximum diffraction efficiency of thermal fixing in LiNbO3:Fe.

Optimal recording wavelength for maximum diffraction efficiency of thermal fixing in LiNbO(3):Fe crystal is investigated. Holographic gratings are recorded using three typical recording wavelengths including 488, 514, and 633 nm. Optimal switching from recording to thermal fixing is taken into consideration. The fixed holograms are developed by an original recording setup. Diffraction efficiencies of recording and thermal fixing are measured by a two-wave coupling technique. The theoretical and experimental results are analyzed and compared. With a blue beam, the nonvolatile hologram with maximum fixing efficiency is achieved. This work can obtain high persistent diffraction of the nonvolatile holographic storage in LiNbO(3):Fe crystals.

Bromoxynil residues and dissipation rates in maize crops and soil.

A residue analytical method for the determination of bromoxynil in soil and maize was developed using high performance liquid chromatography with diode-array detector (HPLC-DAD) and high performance liquid chromatography tandem mass spectrometry (HPLC-MS/MS). The residual level and dissipation rate of bromoxynil in the soil and maize crops were determined using the established method. The mean half-life of bromoxynil in soil was 4.12 days with a dissipation rate of 91.25% over 21 days. The mean half-life in maize seedling was 1.14 days with a dissipation rate of 97.79% over 7 days. The final residues of bromoxynil were undetectable in maize grain, maize stem and soil at the harvest time, suggesting that residual levels of bromoxynil in maize plants are safe to humans and animals as well as to the environment.

Electrochromism accompanying ferroelectric domain inversion in congruent RuO2:LiNbO3 crystal.

Electrochromic phenomena accompanying the ferroelectric domain inversion in congruent RuO2-doped z-cut LiNbO3 crystals at room temperature are observed in experiments. During the electric poling process, the electrochromism accompanies the ferroelectric domain inversion simultaneously in the same poled area. The electrochromism is completely reversible when the domain is inverted from the reverse direction. The influences of electric field and annealing conditions on domain inversion and electrochromism are also discussed. We propose the reasonable assumption that charge redistribution within the crystal structure caused by domain inversion is the source for electrochemically oxidation and reduction of Ru ion to produce the electrochromic effect.