A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review

Minglan Yang,Ying Dong,Jianqing Tian,Li Yan,Yawen Chen,Huiying Qiu,Wei Liu,Yaomin Hu 한국유전학회 2020 Genes & Genomics Vol.42 No.9

Background Gitelman syndrome (GS) is a tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis, which is caused by mutations in SLC12A3 gene. Objective The objective of this study was to investigate the mutation of SLC12A3 gene in a pedigree with GS and analyzed the clinical manifestations. Methods Next-generation sequencing and Sanger sequencing were performed to explore the mutations of SLC12A3 gene in a GS pedigree that included a 59-year-old male GS patient and a total of 11 family members within three generations. Results A novel compound heterozygous mutation of SLC12A3 gene (c.1712T>C in exon14 and c.2986_2987ins GCT in exon26) was identifed by genetic testing in the proband. Moreover, we demonstrated that two brothers shared the same heterozygous mutation with the proband, but only one brother had the GS related symptoms. His nephew was the carrier of one mutation (c.1712T>C), and one of his brother, his sister and niece were carriers of the other (c.2986_2987ins GCT). Conclusions This is the frst study to report the novel pathogenic compound heterozygous mutation of SLC12A3 gene in GS. Our result further supports the lack of phenotype–genotype correlations in GS. Further functional studies are required to investigate pathophysiologic mechanisms of GS.

Effect of Ligustilide Supplement on Physical Fitness of Athletes

Xiaojuan Gao,Shuai Yang,Meng Liu,Yawen Jiang,Li Wenyan,Rui Ma,Zijian Zhao,Xuelin Zhang 아시아건강운동학회 2020 Journal of Asian Society for Health & Exercise Vol.2 No.2

PURPOSE: In this study, high content ligustilide plant extract was supplemented to monitor the changes of physical fitness and physiological function of athletes, and to explore the effect of ligustilide plant extract on physical function and physical fitness of athletes. METHODS: Thirty five high-level basketball players from Zhengzhou University were selected and divided into two groups randomly: nutritional supplement group (S, n = 18) and control group (C, n=17). This study was approved by the Ethics Committee of Zhengzhou University. Informed consent was obtained from each subject. The intervention period was 8 weeks, six days per week. The training method adopted the small cycle plate training scheme. We measured changes of the scores of rating of perceived exertion (RPE), physical fitness test (15m running, 30m running, 400m running) and routine blood test (mainly including red blood cell count, hemoglobin concentration and average erythrocyte hemoglobin concentration, etc.) before and after training. RESULTS: In group S, the percentage of RPE (grade 6-11) and RPE (grade 12-18) before experiment was 37.5% and 62.5%. After 8 weeks of experiment, 62.5% of RPE (grade 6-11) and 37.5% of RPE (grade 12-18). In group C, 14% of RPE (grade 6-11), 86% of slight RPE (grade 12-18), and 100% of RPE (grade 12-18) after 8 weeks of experiment. It was found that after 8 weeks of training, the number of red blood cells, the concentration of hemoglobin and the average concentration of red blood cell hemoglobin in group S were significantly higher than those before the experiment (p <0.05). According to the comparison of the physical fitness test results of the athletes in group S, it was found that the performance of 400m after 4 weeks and 8 weeks was significantly higher compared with pre-experiment (p<0.05). The changes of 30m and 15m were not significant different (p>0.05). The 400-meter test performance of athletes in group C was significantly higher than that before the experiment only after 8 weeks of training (p<0.05). CONCLUSIONS: Ligustilide supplementation can increase the number of red blood cell and hemoglobin concentration of athletes and has a positive impact on the physical fitness of athletes and the recovery of fatigue.

The effects of cigarettes and alcohol on intestinal microbiota in healthy men

Lin Renbin,Zhang Yawen,Chen Luyi,Qi Yadong,He Jiamin,Hu Mengjia,Zhang Ying,Fan Lina,Yang Tao,Wang Lan,Si Misi,Chen Shujie 한국미생물학회 2020 The journal of microbiology Vol.58 No.11

Human intestinal microbiota is affected by the exogenous microenvironment. This study aimed to determine the effects of cigarettes and alcohol on the gut microbiota of healthy men. In total, 116 healthy male subjects were enrolled and divided into four groups: non-smoking and non-drinking (Group A), smoking only (Group B), drinking only (Group C), and smoking and drinking combined (Group D). Fecal samples were collected and sequenced using 16S rRNA to analyze the microbial composition. Short-chain fatty acid (SCFAs) levels in feces were determined by gas chromatography. We found that cigarette and alcohol consumptions can alter overall composition of gut microbiota in healthy men. The relative abundances of phylum Bacteroidetes and Firmicutes and more than 40 genera were changed with cigarette and alcohol consumptions. SCFAs decreased with smoking and alcohol consumption. Multivariate analysis indicated that when compared with group A, group B/C/D had higher Bacteroides, and lower Phascolarctobacterium, Ruminococcaceae_ UCG-002, Ruminococcaceae_UCG-003, and Ruminiclostridium_ 9 regardless of BMI and age. Additionally, the abundance of Bacteroides was positively correlated with the smoking pack-year (r = 0.207, p < 0.05), the abundance of predicted pathway of bacterial toxins (r = 0.3672, p < 0.001) and the level of carcinoembryonic antigen in host (r = 0.318, p < 0.01). Group D shared similar microbial construction with group B, but exerted differences far from group C with lower abundance of Haemophilus. These results demonstrated that cigarette and alcohol consumption separately affected the intestinal microbiota and function in healthy men; furthermore, the co-occurrence of cigarette and alcohol didn’t exacerbate the dysbiosis and cigarette played the predominated role on the alteration.

pH and Redox Dual Stimuli-Responsive Injectable Hydrogels Based on Carboxymethyl Cellulose Derivatives

Yueqin Shen,Xian Li,Yawen Huang,Guanjun Chang,Ke Cao,Junxiao Yang,Renyi Zhang,Xueying Sheng,Xu Ye 한국고분자학회 2016 Macromolecular Research Vol.24 No.7

pH and redox dual stimuli-responsive injectable hydrogels were prepared by cross-linking oxidized carboxymethyl cellulose (oxi-CMC) with 3,3'-dithiobis (propionohydrazide) (DTP) via Schiff base reaction under physiological condition. The hydrogels showed good performance such as tunable gelling time, appropriate rheology properties, high swelling ratio and low degradation rate. In vitro release studies confirmed that bovine serum albumin (BSA) as a model drug exhibited a sustainable release at pH 7.4 and an accelerated release under a lower pH 5.0 and/or reducing environments. The results signified that oxi-CMC/DTP hydrogels could be an attractive candidate for drug delivery system, tissue engineering or cell scaffold materials.

Nodule Rich Protein 2 modulates nodule number in Medicago truncatula

Junhui Yan,Xinwei Yang,Yawen Wang,Liangliang Yu,Li Luo 한국식물생명공학회 2021 Plant biotechnology reports Vol.15 No.1

Symbiotic nitrogen fxation is beneft to sustainable agriculture and global nitrogen cycle. Many small peptides were identifed as regulators involving in the interaction between rhizobia and legume. Here we reported Nodule Rich Protein 2 (MtNRP2) encoding a small peptide in Medicago truncatula, belonged to a group of nodule rich protein restricted in legume species. MtNRP2 expressed highly in root nodule and its promoter was active during the initiation and development of root nodule and lateral root. To investigate the function of MtNRP2 in nodulation, we generated MtNRP2-overexpression and MtNRP2- knockdown transgenic Medicago. MtNRP2-overexpression transgenic lines performed normal nodulation phenotype compared with vector control. However, in the MtNRP2-RNAi transgenic plants, the decrease of MtNRP2 expression lead to the increase of infection threads number (7 day post inoculation) and nodules number (3 week post inoculation); meanwhile, the expression of MtRGF3 and MtPUB1 was inhibited. These results suggested that MtNRP2 negatively regulated nodulation in Medicago truncatula.

Conjugated Polymers Based on Modified Benzo[1,2-b:4,5-b']Dithiophene and Perylene Diimide Derivatives: Good Optical Properties and Tunable Electrochemical Performance

Kun Fang,Xu Ye,Yawen Huang,Guanjun Chang,Junxiao Yang,Yueqin Shen 한국고분자학회 2015 Macromolecular Research Vol.23 No.6

Three original conjugated polymers were devised and synthesized via the alternating conjugated polymerization of the electron-donating monomer of the modified benzo[1,2-b:4,5-b']dithiophene (BDT) and electronaccepting monomers of perylene diimide (PDI), dithienyl-perylene diimide (DTPDI) and dithienocoronene diimide (DTCDI), respectively. The synthesized conjugated polymers presented excellent thermal stability (Td >400 oC) as well as broad absorption in visible region and narrow gap of energy level (1.80 to 2.01 eV). Moreover, P(BDT-DTCDI) exhibited strong fluorescence properties ( =736 nm with excitation at 680 nm). According to the theoretical calculations, P(BDT-PDI) and P(BDT-DTPDI) displayed significant polymer backbone torsion (41.44o and 39.64o), and P(BDT-DTCDI) had highly coplanar backbone with negligible angle between BDT and DTCDI. The results indicated that P(BDT-DTCDI) had potential applications in the fields of organic thin-film transistors (OTFTs) and fluorescence materials, and P(BDT-PDI) and P(BDT-DTPDI) could be used as a stable n-type semiconductor for polymer solar cells.

Transparent Lamellar Porous Material and Its Greatly Reduced Dielectric Constant

Lili Liu,Cuijiao Zhao,Yawen Huang,Xiaonan Wei,Hongtao Yu,Junxiao Yang 한국고분자학회 2017 Macromolecular Research Vol.25 No.10

One trend for low dielectric materials is to reach low dielectric constant values at as low porosity as possible. In this work, a lamellar porous material was prepared by spin-coating of poly(vinyl alcohol) (PVA)/manganese dioxide (MnO2) nanosheet composited film, followed by cross-linking of PVA and removing nanosheets. FTIR, XRD and TGA measurement results demonstrate that the templates were almost completely removed. SEM image shows that the etched PVA film has a lamellar porous structure. Dielectric test results indicate that at the porosity of only 17.5%, the dielectric constant of porous PVA is reduced to approximately half that of neat cross-linked PVA. The serial model shows a good consistence with experimental dielectric constant value. This explains well the high efficiency of lamellar porous structure in reducing dielectric constant.

Computational Studies on Mesh Stiffness of Paralleled Helical Beveloid Gear Pair

Ruihua Sun,Chaosheng Song,Caichao Zhu,Yawen Wang,Xingyu Yang 한국정밀공학회 2021 International Journal of Precision Engineering and Vol.22 No.1

Considering the asymmetrical left and right tooth profiles including the transient curve at the tooth root region and the varying thickness along the axial direction due to the cone angle, we build the accurate profile curve model including the transient curve at the tooth root of helical beveloid gear with machining parameters to solve the problem of non-applicability of real digital model. According to the feature of gear shape varying along tooth width direction, we introduced the slicing method and derived its grouping formula. Finally, the efficient and accurate slicing-based mesh stiff ness calculation model of paralleled helical beveloid gears was proposed using potential energy theory. Then, mesh stiff ness was calculated using finite element contact model for comparison and verification. Finally, the impacts of macro geometry parameters including cone angle, normal pressure angle, helix angle, tooth width and addendum coefficient on single and total mesh stiff ness were analyzed. The calculated mesh stiff ness correlates well with the results from FEM with the maximum peak error is 4.8%. Results show that the tooth width shows an obvious incremental impact on average total mesh stiff ness. When the pressure angle, helix angle, cone angle and addendum coefficient increase, the average total mesh stiff ness increases first and then decreases. For the fluctuating value, it increases as the tooth width, helix angle and cone angle increase. However, the pressure angle and addendum coefficient show an opposite impact on the fluctuating value.

All-Benzocyclobutene Functionalized Polycarbosilane and Derived Copolymers with Low Dielectric Constant and High Thermal Stability

Nan Zhong,Xian Li,Huan Hu,Yawen Huang,Xu Ye,Junxiao Yang 한국고분자학회 2019 Macromolecular Research Vol.27 No.12

All-benzocyclobutene functionalized polycarbosilanes and the derived copolymers were successfully synthesized by ring-opening polymerization (ROP) of 1,1-dibenzocyclobutene-1-silacyclobutane (DBCBSCB) and 1,1-diphenylsiletane (DPSCB) using Karstedt’s catalyst. Adjusting the copolymerization ratio of DBCBSCB and DPSCB could afford to control the ultimate properties of the cured resins. The linear polycarbosilanes containing dibenzocyclobutene were directly cross-linked upon high temperature. With increasing the copolymerization ratio of DBCBSCB and DPSCB, the 5% weight loss temperature (T5%) of cured resins is increased from 450 °C to 506 °C under a nitrogen atmosphere, while the dielectric constant (k) is decreased from 2.60 to 2.42 at 10 MHz. The excellent thermostability and low-dielectric performance make such thermosets have potential application in the microelectronic industry.

Impact of sorption functional media (SFM) from zeolite tailings on the removal of ammonia nitrogen in a biological aerated filter

Yan Feng,Yanzhen Yu,Liping Qiu,Yawen Yang,Zhigang Li,Miaowan Li,Lisha Fan,Yuzhong Guo 한국공업화학회 2015 Journal of Industrial and Engineering Chemistry Vol.21 No.1

Haydite and sorption functional media (SFM),made of clinoptilolite tailings, were used as filter media forbiological aerated filter (BAF) to treat synthetic wastewater in parallel. The aim of this work was toevaluate impact of SFM on the removal of ammonia nitrogen in a biological aerated filter reactor underammonium nitrogen shock loads. It could be demonstrated that: (1) the BAF with SFMpresented higherammonia nitrogen removal efficiency than that with haydite; (2) during the phase of higher influentconcentrations SFMs were collecting ammonia nitrogen and can buffer ammonia nitrogen loads anddampen the effluent concentration of ammonia nitrogen; (3) when the influent concentration decreasesammonia nitrogen will desorb from the SFM and can be utilized by the nitrifying bacteria growing on theSFM. Therefore, with the SFM application existing BAF unites can be upgraded and the stability of theoperation process of BAF can be improved significantly.