Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma

Purpose To identify deleterious mutations in the latent transforming growth factor-β–binding protein 2 (LTBP2) gene in sporadic patients with primary congenital glaucoma (PCG) from a Han Chinese population, which had been excluded for mutations in the CYP1B1 gene. Methods: In this retrospective case–control study, 36 coding exons and adjacent exon–intron boundaries of LTBP2 were amplified with PCR and screened for mutations with Sanger sequencing in DNA samples of 214 sporadic patients with PCG. Sequence variants identified in the patients with PCG were subsequently screened in 100 unaffected control subjects and the unaffected parents of the patients with PCG who had sequence changes in LTBP2. Results: Eight heterozygous single nucleotide polymorphisms (SNPs) in coding regions of LTBP2 were identified in the patients with PCG. Four of these SNPs were missense changes that resulted in the replacement of amino acids (rs2304707, rs116914994, rs45468895, and rs763035721), two of which (rs2304707 and rs116914994) were also present in the control subjects. No significant differences in the frequencies of the missense SNPs were found between the patients with PCG and the controls. The two missense SNPs, rs45468895 and rs763035721, which were each found in one patient also existed in their unaffected parents, suggesting that these two SNPs were not segregated in these families and are unlikely to be a disease-causative variant. In addition, four synonymous SNPs were detected in the patients with PCG (rs61738025, rs862031, rs199805158, and rs12586758). Conclusions: The results showed that no deleterious mutations were found in coding regions of LTBP2 in patients with PCG, suggesting that it is not a causal gene for PCG in the Han Chinese population

Comprehensive Influence Model of Preschool Children’s Personality Development Based on the Bayesian Network

It is crucial to ascertain the comprehensive influence factors on personality for making effective cultivating plan. However, most existing literatures focus on the effect of individual factor on the personality. In order to comprehensively investigate the causal influences of preschool children’s temperament, school factors (teacher expectation and peer acceptance), and family factors (parental coparenting style, parental education value, and parental parenting style) on the personality and the probability of the dependencies among these influence factors, we constructed the influencing factor model of personality development based on the Bayesian network. The models not only reflect the influence on personality development as a whole, but also obtain the probability relationships among the factors. Compared with other influence factors including family and school factors, temperament has more effect on the personality. In addition, teacher expectation also has an important influence on the personality. The experimental results show that it is a valuable exploration to construct the Bayesian network for comprehensively investigating the causal relationships between preschool children’s personality and related influence factors. Further, these results will be helpful to the cultivation of healthy personality

Role of thermal ionization in internal modification of bulk borosilicate glass with picosecond laser pulses at high repetition rates

We study the roles of thermal ionization and electronic damage in the internal modification of bulk borosilicate glass by high repetition rate picosecond laser pulses. Laser-induced plasma generation, nonlinear energy deposition and steady temperature distribution are numerically analyzed. The simulated modified regions show good agreement with the experimental results, thereby revealing the roles of thermal damage and electronic damage in the internal modification. While the elliptical outer structure is recognized as the molten region, we found that the teardrop-shaped inner structure is the damaged zone caused by high-density free-electrons. In the formation of the inner structure, cascade ionization is seeded by thermal ionization instead of multi-photon ionization and dramatically increases the free-electron density to the damage threshold. The contour of the inner structure is found to be corresponding to a characteristic isotherm of around 3000 ~4000 °C

Towards crack-free ablation cutting of thin glass sheets with picosecond pulsed lasers

We investigated the morphology and mechanism of laser-induced damage in the ablation cutting of thin glass sheets with picosecond laser. Two kinds of damage morphologies observed on the cross-section of the cut channel, are caused by high-density free-electrons and the temperature accumulation, respectively. Notches and micro-cracks can be observed on the top surface of the sample near the cut edge. The surface micro-cracks were related to high energy free-electrons and also the heat-affected zone. Heat-affected-zone and visible-cracks free conditions of glass cutting were achieved by controlling the repetition rate and spatial overlap of laser pulses

Damage morphology and mechanism in ablation cutting of thin glass sheets with picosecond pulsed lasers

We experimentally investigated the morphology and mechanism of laser-induced damage in the ablation cutting of thin glass sheets with picosecond pulsed lasers and we compared the experimental results to our models. After several passes of laser ablation, we observed two different kinds of damage morphologies on the cross-section of the cut channel. They are distinguished to be the damage region caused by high-density free-electrons and the heat-affected zone due to the heat accumulation, respectively. Furthermore, micro-cracks can be observed on the top surface of the workpiece near the cut edge. The nano-cracks could be generated by high energy free-electrons but opened and developed to be visible micro-cracks by thermal stress generated in the heat-affected zone. The crack length was proportional to the volume of heat-affected zone. Heat-affected-zone and visible-cracks free conditions of glass cutting were achieved by controlling the repetition rate and spatial overlap of laser pulses. (C) 2016 Elsevier Ltd. All rights reserved

Numerical analysis of laser ablation and damage in glass with multiple picosecond laser pulses

This study presents a novel numerical model for laser ablation and laser damage in glass including beam propagation and nonlinear absorption of multiple incident ultrashort laser pulses. The laser ablation and damage in the glass cutting process with a picosecond pulsed laser was studied. The numerical results were in good agreement with our experimental observations, thereby revealing the damage mechanism induced by laser ablation. Beam propagation effects such as interference, diffraction and refraction, play a major role in the evolution of the crater structure and the damage region. There are three different damage regions, a thin layer and two different kinds of spikes. Moreover, the electronic damage mechanism was verified and distinguished from heat modification using the experimental results with different pulse spatial overlaps

Immune checkpoint‐related gene polymorphisms are associated with acute myeloid leukemia

Abstract Background Chemotherapy is still the standard regimen for treating acute myeloid leukemia (AML) and its disappointing efficacy requires the urgent need for new therapeutic targets. It is well known that immune response plays an increasingly significant role in the pathogenesis of AML. Methods We detected nine single nucleotide polymorphisms (SNPs) in immune checkpoint‐related genes, including PD1, LAG3, TIM3, and TIGIT in 285 AML inpatients and 324 healthy controls. SNP genotyping was performed on the MassARRAY platform. Furthermore, we analyzed the relationship between the susceptibility and prognosis of AML and the selected SNPs. Results Our results showed that rs2227982 and rs10204525 in PD1 were significantly associated with susceptibility to AML after false discovery rate correction. PD1 rs10204525 also showed a significant correlation with the response to chemotherapy and risk stratification of AML. Importantly, the AA genotype of PD1 (rs2227982) under the recessive model showed a negative impact on AML prognosis independently. Conclusions Our results indicate that PD1 SNPs are important for susceptibility and prognosis in AML, which may provide a new therapeutic target for AML patients

Laser ablation mechanism of transparent dielectrics with picosecond laser pulses

Thin glass sheets (thickness <1 mm) have a great potential in OLED and LCD displays. While the conventional manufacturing methods, such as mechanical scribing and breaking, result in poor edge strength, ultra-short-pulsed laser processing could be a promising solution, offering high-quality cutting edges. However laser precision glass cutting suffers from unwanted material modification and even severe damage (e.g. cracks and chipping). Therefore it is essential to have a deep understanding of the ultra-short-pulsed laser ablation mechanism of transparent dielectrics in order to remedy those drawbacks. In this work, the ablation mechanism of transparent dielectrics irradiated by picosecond laser pulses has been studied. Ultrafast dynamics of free-electrons is analyzed using a rate equation for free-electron density including multi-photon ionization, avalanche ionization and loss terms. Two maps of free-electron density in parameter space are given to discuss the dependence of ablation threshold intensity/fluence on pulse duration. The laser ablation model describing laser beam propagation and energy deposition in transparent dielectrics is presented. Based on our model, simulations and experiments have been performed to study the ablation dynamics. Both simulation and experimental results show good agreement, offering great potential for optimization of laser processing in transparent dielectrics. The effects of recombination coefficient and electron-collision time on our model are investigated