Two Novel AGXT Mutations Cause the Infantile Form of Primary Hyperoxaluria Type I in a Chinese Family: Research on Missed Mutation

Primary hyperoxaluria type 1 (PH1) is a rare metabolic disorder characterized by a defect in the liver-specific peroxisomal enzyme alanine-glyoxylate and serine-pyruvate aminotransferase (AGT). This disorder results in hyperoxaluria, recurrent urolithiasis, and nephrocalcinosis. Three forms of PH1 have been reported. Data on the infantile form of PH1 are currently limited in literature. Despite the fact that China is the most populated country in the world, only a few AGXT mutations have been reported in several Chinese PH1 patients. In the present study, we investigated a Chinese family in which two siblings are affected by the infantile form of PH1. Sanger sequencing was carried out on the proband, but the results were misleading. Two novel missense mutations (c.517T > C/p.Cys173Arg and c.667A > C/p.Ser223Arg) of the AGXT gene were successfully detected through whole-exome sequencing. These two mutations occurred in the highly conserved residues of the AGT. Four software programs predicted both mutations as the cause of the disease. A postmortem examination was performed and revealed the occurrence of global nephrocalcinosis on both kidneys. The crystals were collected and analyzed as calcium oxalate monohydrate. This study extends the knowledge on the clinical phenotype–genotype correlation of the AGXT mutation. That is, (i) two novel missense mutations were identified for the infantile form of PH1 and (ii) the same AGXT genotype caused the same infantile form of PH1 within the family

Inflammation-Related Cytokines of Aqueous Humor in Acute Primary Angle-Closure Eyes

PURPOSE. To measure levels of various inflammation-related cytokines in the aqueous humor of patients with acute primary angle-closure (APAC) and senile cataract. METHODS. Aqueous humor samples were prospectively collected from 23 eyes (12 eyes with current APAC and 11 eyes with previous APAC) of 23 APAC patients and 15 eyes of 15 cataract patients. The levels of 15 inflammation-related cytokines in the aqueous humor of APAC and cataract subjects were measured by using the multiplex bead immunoassay technique. Data on patient demographics and preoperative intraocular pressure (IOP) were also collected for correlation analysis

Laser in Glaucoma and Ocular Hypertension Trial (LIGHT) in China - A Randomized Controlled Trial: Design and Baseline Characteristics

PURPOSE: To describe the baseline characteristics of a trial to evaluate whether selective laser trabeculoplasty (SLT), as a first-line treatment, provides superior economic and health-related quality of life outcomes to medical treatment in China. DESIGN: The LiGHT China trial is an unmasked, single-center, pragmatic, randomized controlled trial. METHODS: A total of 771 previously undiagnosed patients with primary open angle glaucoma (POAG, 622 patients) or ocular hypertension (OHT, 149 patients) at Zhongshan Ophthalmic Center were recruited from March 2015 to January 2019. Subjects were randomized to SLT-1st (followed by medication then surgery when required) or Medicine-1st (medication followed by surgery when required). The primary outcome was health-related quality of life (HRQL). The secondary outcomes were clinical outcomes, cost, cost-effectiveness, Glaucoma Utility Index, Glaucoma Symptom Scale, visual function, and safety. RESULTS: The mean age of POAG patients was 49.8 years and 38.8 years for OHT. The median intraocular pressure was 20 mm Hg for the 1,105 POAG eyes and 24 mm Hg for the 271 OHT eyes. POAG eyes had thinner central cornea thickness (CCT, 536 µm) than OHT eyes (545 µm). Median mean deviation of the visual field in POAG eyes was -4.2 dB. Median refractive error was -1.5 D for OHT eyes and -1.25 D for POAG eyes. There was no difference between POAG and OHT patients on baseline scores of GUI, GSS and VF-14. The difference between OHT and POAG on the EQ-5D-5L was 0.024. CONCLUSIONS: Compared with participants in the LiGHT UK trial, participants in this trial were younger, more myopic and had more severe visual field defects

Response of soil bacterial communities in wheat rhizosphere to straw mulching and N fertilization

Straw mulching and N fertilization are effective in augmenting crop yields. Since their combined effects on wheat rhizosphere bacterial communities remain largely unknown, our aim was to assess how the bacterial communities respond to these agricultural measures. We studied wheat rhizosphere microbiomes in a split-plot design experiment with maize straw mulching (0 and 8,000 kg straw ha−1) as the main-plot treatment and N fertilization (0, 120 and 180 kg N ha−1) as the sub-plot treatment. Bacterial communities in the rhizosphere were analyzed using 16S rRNA gene amplicon sequencing and quantitative PCR. Most of the differences in soil physicochemical properties and rhizosphere bacterial communities were detected between the straw mulching (SM) and no straw mulching (NSM) treatments. The contents of soil organic C (SOC), total N (TN), NH4+-N, available N (AN), available P (AP) and available K (AK) were higher with than without mulching. Straw mulching led to greater abundance, diversity and richness of the rhizosphere bacterial communities. The differences in bacterial community composition were related to differences in soil temperature and SOC, AP and AK contents. Straw mulching altered the soil physiochemical properties, leading to greater bacterial diversity and richness of the rhizosphere bacterial communities, likely mostly due to the increase in SOC content that provided an effective C source for the bacteria. The relative abundance of Proteobacteria was high in all treatments and most of the differentially abundant OTUs were proteobacterial. Multiple OTUs assigned to Acidobacteria, Chloroflexi and Actinobacteria were enriched in the SM treatment. Putative plant growth promoters were enriched both in the SM and NSM treatments. These findings indicate potential strategies for the agricultural management of soil microbiomes

The relationship between the interactive behavior of industry–university–research subjects and the cooperative innovation performance: The mediating role of knowledge absorptive capacity

IntroductionIndustry–university–research cooperation innovation, which is often characterized by resource complementarity and the sharing technology, has become one of the most preferred innovation cooperation methods for enterprises. However, various problems still occur in the process of industry–university–research cooperations, such as poor innovation performance and difficulty in sustaining cooperation. Existing studies mostly focus on the macroscopic perspectives of geographic location, cooperation scale, concentration, and diversification of industry–university–research cooperation subjects, and fail to explore the microscopic behavioral mechanisms.MethodsTherefore, this paper establishes the interactive behavior of industry–university–research subjects and defines its concepts and dimensions in an attempt to provide a mechanism for improving the cooperative innovation performance of industry–university–research from the micro-behavioral perspective. On the basis of theoretical analysis, this paper develops a model of the relationship between cooperative trust, cooperative communication, and cooperative innovation performance for interactive behavior, while exploring the mediating role of knowledge absorptive capacity. The model was validated by stepwise regression using data from 325 questionnaires.ResultsThe paper found that cooperative trust and cooperative communication in the cooperative interactive behavior of industry–university–research positively contribute to the improvement of cooperative innovation performance. Knowledge absorptive capacity plays a partially mediating role between the interactive behaviors and cooperative innovation performance. More specifically, knowledge absorptive capacity partially mediates cooperative communication in cooperative innovation performance and completely mediates cooperative trust in cooperative innovation performance. The results are largely consistent with the results of the heterogeneity analysis of the sample.DiscussionThis paper not only explains why the cooperative innovation performance of industry–university–research is poor from the perspective of interactive behavior, but also enriches the research perspective of industry–university–research and provides theoretical support for enterprises to optimize the relationship between industry, university, and research institutes

Exome Sequencing Identified a Recessive RDH12

Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing technology. A Chinese family with 7 members including two individuals affected with severe early-onset RP was studied. All patients underwent a complete ophthalmic examination. Exome sequencing was performed on a single RP patient (the proband of this family) and direct Sanger sequencing on other family members and normal controls was followed to confirm the causal mutations. A homozygous mutation c.437T<A (p.V146D) in the retinol dehydrogenase 12 (RDH12) gene, which encodes an NADPH-dependent retinal reductase, was identified as being related to the phenotype of this arRP family. This homozygous mutation was detected in the two affected patients, but not present in other family members and 600 normal controls. Another three normal members in the family were found to carry this heterozygous missense mutation. Our results emphasize the importance of c.437T<A (p.V146D) substitution in RDH12 and provide further support for the causative role of this mutation in the pathogenesis and clinical diagnosis of RP

CFD study on thermal transport in open-cell metal foams with and without a washcoat: Effective thermal conductivity and gas-solid interfacial heat transfer

publisher: Elsevier articletitle: CFD study on thermal transport in open-cell metal foams with and without a washcoat: Effective thermal conductivity and gas-solid interfacial heat transfer journaltitle: Chemical Engineering Science articlelink: http://dx.doi.org/10.1016/j.ces.2016.12.006 content_type: article copyright: © 2016 Elsevier Ltd. All rights reserved.publisher: Elsevier articletitle: CFD study on thermal transport in open-cell metal foams with and without a washcoat: Effective thermal conductivity and gas-solid interfacial heat transfer journaltitle: Chemical Engineering Science articlelink: http://dx.doi.org/10.1016/j.ces.2016.12.006 content_type: article copyright: © 2016 Elsevier Ltd. All rights reserved.publisher: Elsevier articletitle: CFD study on thermal transport in open-cell metal foams with and without a washcoat: Effective thermal conductivity and gas-solid interfacial heat transfer journaltitle: Chemical Engineering Science articlelink: http://dx.doi.org/10.1016/j.ces.2016.12.006 content_type: article copyright: © 2016 Elsevier Ltd. All rights reserved.This work was supported by the National Natural Science Foundation of China (No. 51276181, 21306192) and the National Key Research and Development Program – China (2016YFB0601203)

3D Printing: Print the future of ophthalmology

Citation: Huang W, Zhang X. 3D printing: print the future of ophthalmology. Invest Ophthalmol Vis Sci. 2014;55:5380-5381. DOI:10.1167/ iovs.14-15231 The three-dimensional (3D) printer is a new technology that creates physical objects from digital files. Recent technological advances in 3D printing have resulted in increased use of this technology in the medical field, where it is beginning to revolutionize medical and surgical possibilities. It is already providing medicine with powerful tools that facilitate education, surgical planning, and organ transplantation research. A good understanding of this technology will be beneficial to ophthalmologists. The potential applications of 3D printing in ophthalmology, both current and future, are explored in this article