Background: Inborne errors of metabolism are a common cause of neonatal death. This study evaluated the acute early-onset metabolic derangement and death in two unrelated neonates. Methods: WES, Sanger sequencing, homology modeling, and in silico bioinformatics analysis were employed to assess the effects of variants on protein structure and function. Results: WES revealed a novel homozygous variant, p. G303Afs*40 and p. R156P, in the PC gene of each neonate, which both were confirmed by Sanger sequencing. Based on the ACMG guidelines, the p. G303Afs*40 was likely pathogenic, and the p. R156P was a VUS. Nevertheless, a known variant at position 156, the p. R156Q, was also a VUS. Protein secondary structure prediction showed changes in p. R156P and p. R156Q variants compared to the wild-type protein. However, p. G303Afs*40 depicted significant changes at C-terminal. Furthermore, comparing the interaction of wild-type and variant proteins with the ATP ligand during simulations, revealed a decreased affinity to the ATP in all the variants. Moreover, analysis of SNP impacts on PC protein using Polyphen-2, SNAP2, FATHMM, and SNPs&GO servers predicted both R156P and R156Q as damaging variants. Likewise, free energy calculations demonstrated the destabilizing effect of both variants on PC. Conclusion: This study confirmed the pathogenicity of both variants and suggested them as a cause of type B PCD. The results of this study would provide the family with prenatal diagnosis and expand the variant spectrum in the PC gene, which is beneficial for geneticists and endocrinologists.

Using a photonic crystal array, an all-optical half-subtractor has been designed that consists of four resonant rings and some waveguides which connect two input ports to output ports. The silicon rods with a period of 0. 631 μ m are arranged in the form of a square. Concerning the four working states of the device, different radii of nonlinear rods inside the resonators have been chosen. This issue makes the different switching thresholds for the rings and results in the correct dropping operation for optical waves. Unlike the previous works, each bit is defined to one port, and the input ports have equal power. The maximum rise time and the contrast ratio of the presented circuit are 3. 5 ps and 8. 45 dB, respectively. The fast response and small size are the main advantages of the presented subtractor. The obtained results demonstrates that the designed device has an acceptable performance which is proper for optical applications.

Background: Delivering the radiation dose to the target volume and minimizing the dose to normal tissues are the main objectives in radiotherapy. The aim of our study is to enhance the contrast of the portal image to increase the accuracy of delineation of the organs in the irradiation field. Methods: The software was written based on local enhancement of the pixel values in image matrix. The portal images were digitized by charged coupled device (CCD) in compatible format to be read with this program. This program was applied as an m-file in MATLAB imaging tool box to the matrices of the portal images. The imaging parameters before and after application of the program were compared. Results: The quantitative information of images was obtained. Analysis of the mean and standard deviations of the results has shown that the difference of the criteria between two groups of the images is significant (p< 0.01). In qualitative analysis, final images scores were based on “special weight “. The result of this test confirms the superior quality of the post-processed images from the professional view point. Conclusion: Superiority of final images within the three studied parameters by the experts (superiority of lung image, superiority of thorax and its soft tissue images) can be used to increase the accuracy of the treatment set up and decrease the probability of normal tissue complications.