Composition Design of Ni-Nano-Cu-BTC@Ag Coatings with Low Friction and Their Intelligent Electrical Control Behavior.

At present, Ni-based coatings are rarely used in the field of voltage control friction because of their poor antifriction, wear resistance, and conductive properties. Therefore, in this paper, Cu-BTC@Ag nanocrystals were used to enhance the nickel coatings, and the effect of voltage on their tribological properties was also investigated. It was found that the grains of coating were refined via the addition of Cu-BTC@Ag nanocrystals, leading to an improvement in the hardness and corrosion resistance of this composite coating. The tribological performance of nickel composite coating could be controlled under different electrical fields. With the comparison of the pure Ni-based coating, the average friction coefficient and wear volume of its composite coating with 5 wt % Cu-BTC@Ag were reduced by 7.0 and 91.8%, respectively, which showed excellent wear resistance without an applied voltage. Under the condition of 20 V, the 5 wt % Cu-BTC@Ag/Ni-based composite coating owned outstanding antifriction performance. Therefore, Cu-BTC@Ag played an intelligent role in regulating the friction of Ni-based coatings under an external voltage. It is due to the accumulation of Cu-BTC@Ag nanocrystals on the surface of the coating under the action of voltage, which played the role of supporting load and effectively reducing wear.

Association between obesity and short- and medium-term mortality in critically ill patients with atrial fibrillation: a retrospective cohort study.

BACKGROUND: There has been controversy about how obesity affects the clinical prognosis for patients with atrial fibrillation (AF), and the relationship between obesity and outcomes in critically ill patients with AF remains unclear. The purpose of this study was to explore the association between obesity and short- and medium-term mortality in critically ill patients with AF. METHODS: The Medical Information Mart for Intensive Care-IV (MIMIC-IV) database was used to conduct a retrospective cohort analysis on 9282 critically ill patients with AF. Patients were categorized into four groups based on their body mass index (BMI) values: underweight, normal-weight, overweight, and obese. The outcomes of this study were 30-day, 90-day, and 1-year all-cause mortality. Cox proportional-hazards models and restricted cubic spline analyses were performed to investigate the association between BMI and mortality. RESULTS: For 30-day mortality, after adjustment for all confounding factors, the hazard ratio (HR) with 95% confidence interval (CI) for the underweight, overweight, and obese categories were 1.58 (1.21, 2.07), 0.82 (0.72, 0.93), and 0.79 (0.68, 0.91), respectively, compared to the normal-weight category. Using multivariable-adjusted restricted cubic spline analysis, an "L-shaped" correlation was observed between BMI and 30-day mortality. For each 1 kg/m2 increase in BMI when BMI was less than 30 kg/m2, the risk of 30-day mortality decreased by 6.4% (HR, 95% CI: 0.936 [0.918, 0.954]; P < 0.001); however, this relationship was not present when BMI was greater than or equal to 30 kg/m2. Similar results were observed for 90-day and 1-year mortality. CONCLUSIONS: There was a nonlinear relationship between BMI and all-cause mortality among critically ill patients with AF. All-cause mortality and the BMI were negatively correlated when the BMI was less than 30 kg/m2.

Decavanadate Doped Polyaniline for Aqueous Zinc Batteries.

Polyaniline (PANI) is a promising cathode material for aqueous rechargeable zinc batteries (ARZBs), mainly benefitting from its good electrical conductivity. The high conductivity of PANI requires high doping level, yet the introduced nonactive dopants (e.g., SO4 2- ) limit the gravimetric capacity of PANI (usually < 180 mAh g-1 ). Herein, an electro-active dopant (decavanadate anion, V10 O28 6- ) is employed to fabricate the PANI cathode (PANI-V10 O28 ) for ARZBs. The doped decavanadate anion with the sub-nanometer structure can fully expose the V-based active sites, exhibiting good electrochemical activity. Due to the steric hindrance effect as well as the strong interaction between decavanadate anions and PANI chains, the active dopants are trapped in the polymer chains, demonstrating good structural and electrochemical stability. PANI-V10 O28 achieves a record-high gravimetric capacity of 355 mAh g-1 at 0.1 A g-1 , which is significantly higher than other reported PANI cathodes. Experimental results suggest that the charge storage mechanism of PANI-V10 O28 includes reversible injection/extraction of Zn(H2 O)2 Cl4 2- ions in PANI, as well as the protonation/deprotonation of V10 O28 6- . This work enriches the doping chemistry of conducting polymer and pushes the development of organic cathodes for ARZBs to a new stage.

Role of the fsr Quorum-Sensing System in Enterococcus faecalis Bloodstream Infection.

Enterococcus faecalis is an important intestinal colonizing bacteria and can cause various tissue infections, including invasive blood infection (BI). The annual incidence of E. faecalis BI has been estimated to be ~4.5 per 100,000, with a fatality rate that can reach 20%. However, whether bacterial colonization or invasive infections are tissue based has not been thoroughly studied. In this study, we analyzed 537 clinical isolates from 7 different tissues to identify the key genomic elements that facilitate the colonization and invasive infection of E. faecalis. Comparative genomic analysis revealed that the BI E. faecalis isolates had the largest genome size but the lowest GC content, fsr quorum-sensing system genes were enriched in the BI E. faecalis, and the fsr gene cluster could enhance biofilm formation and serum resistance ability. Our findings also provide deep insight into the genomic differences between different tissue isolates, and the fsr quorum-sensing systems could be a key factor promoting E. faecalis invasion into the blood. IMPORTANCE First, we conducted an advanced study on the genomic differences between colonizing and infecting E. faecalis, which provides support and evidence for early and accurate diagnoses. Second, we discovered that fsr was significantly associated with blood infections, which also provides additional information for studies exploring the invasiveness of E. faecalis. Most importantly, we found that fsr played an important role in both biofilm formation and serum resistance ability in E. faecalis.

Relationship between red blood cell distribution width-to-albumin ratio and outcome of septic patients with atrial fibrillation: a retrospective cohort study.

BACKGROUND: This retrospective cohort study aimed to investigate the association between red blood cell distribution width-to-albumin ratio (RAR) and in-hospital mortality in patients with sepsis and atrial fibrillation (AF). METHODS: Data were obtained from the Medical Information Mart for the Intensive Care Database IV database version 1.0. Multivariate Cox regression models, curve-fitting, and Kaplan-Meier analyses were performed to determine the correlation between RAR and in-hospital mortality in patients with sepsis and AF. RESULTS: This study included 3042 patients with sepsis and AF. Confounding variables were adjusted for in the Multivariable Cox regression analysis models. RAR was independently associated with in-hospital mortality (hazard ratio 1.06; 95% confidence interval 1.03-1.08; p < 0.001). A linear relationship was found between the RAR and in-hospital mortality in patients with sepsis and AF. CONCLUSION: Elevated RAR levels are associated with increased in-hospital mortality in patients with sepsis and AF. Further research is required to confirm this association.

Multi-omics provide mechanistic insight into the Pb-induced changes in tadpole fitness-related traits and environmental water quality.

Water pollution from lead/Pb2+ poses a significant threat to aquatic ecosystems, and its repercussions on aquatic animals have received considerable attention. Although Pb2+ has been found to affect numerous aspects of animals, including individual fitness, metabolic status, and symbiotic microbiota, few studies have focused on the associations between Pb2+-induced variations in fitness, metabolome, symbiotic microbiome, and environmental parameters in the same system, limiting a comprehensive understanding of ecotoxicological mechanisms from a holistic perspective. Moreover, most ecotoxicological studies neglected the potential contributions of anions to the consequences generated by inorganic lead compounds. We investigated the effects of Pb(NO3)2 at environmentally relevant concentrations on the Rana omeimontis tadpoles and the water quality around them, using blank and NaNO3-treated groups as control. Results showed that Pb(NO3)2 not only induced a rise in water nitrite level, but exposure to this chemical also impaired tadpole fitness-related traits (e.g., growth and development). The impacts on tadpoles were most likely a combination of Pb2+ and NO3-. Tissue metabolomics revealed that Pb(NO3)2 exposure influenced animal substrate (i.e., carbohydrate, lipid, and amino acid) and prostaglandin metabolism. Pb(NO3)2 produced profound shifts in gut microbiota, with increased Proteobacteria impairing Firmicutes, resulting in higher aerobic and possibly pathogenic bacteria. NaNO3 also influenced tadpole metabolome and gut microbiome, in a manner different to that of Pb(NO3)2. The presence of NO3- seemed to counteract some changes caused by Pb2+, particularly on the microbiota. Piecewise structural equation model and correlation analyses demonstrated connections between tissue metabolome and gut microbiome, and the variations in tadpole phenotypic traits and water quality were linked to changes in tissue metabolome and gut microbiome. These findings emphasized the important roles of gut microbiome in mediating the effects of toxin on aquatic ecosystem. Moreover, it is suggested to consider the influences of anions in the risk assessment of heavy metal pollutions.

Solid-Liquid Interfacial Coordination Chemistry Enables High-Capacity Ammonium Storage in Amorphous Manganese Phosphate.

Ammonium (NH4 + ) ion as charge carrier is attracting attention in aqueous batteries. Yet, most NH4 + host materials are still limited by the relatively low capacities. Here, we fabricated a manganese phosphate (MP-20) for NH4 + ion storage. MP-20 displays a high capacity of 299.6 mAh g-1 at 1 A g-1 in ammonium acetate (NH4 Ac) electrolyte, outperforming other reported NH4 + host materials. Spectroscopy studies suggest a new NH4 + /H+ co-insertion mechanism. We surprisingly discover that the NH4 Ac electrolyte plays an important role in improving the charge storage capability of the materials. Experimental and computational results indicate acetate ions can form coordination bonds with the Mn atoms, tailoring the electronic structure of the Mn atoms and the surrounding O atoms, and therefore facilitating the NH4 + storage process. Our findings provide a new NH4 + host material and propose the important role of the electrolyte-electrode coordination effect in aqueous ammonium batteries.

Ammonium-Ion Storage Using Electrodeposited Manganese Oxides.

NH4 + ions as charge carriers show potential for aqueous rechargeable batteries. Studied here for the first time is the NH4 + -storage chemistry using electrodeposited manganese oxide (MnOx ). MnOx experiences morphology and phase transformations during charge/discharge in dilute ammonium acetate (NH4 Ac) electrolyte. The NH4 Ac concentration plays an important role in NH4 + storage for MnOx . The transformed MnOx with a layered structure delivers a high specific capacity (176 mAh g-1 ) at a current density of 0.5 A g-1 , and exhibits good cycling stability over 10 000 cycles in 0.5 M NH4 Ac, outperforming the state-of-the-art NH4 + hosting materials. Experimental results suggest a solid-solution behavior associated with NH4 + migration in layered MnOx . Spectroscopy studies and theoretical calculations show that the reversible NH4 + insertion/deinsertion is accompanied by hydrogen-bond formation/breaking between NH4 + and the MnOx layers. These findings provide a new prototype (i.e., layered MnOx ) for NH4 + -based energy storage and contributes to the fundamental understanding of the NH4 + -storage mechanism for metal oxides.

Investigating industrial water-use efficiency in mainland China: An improved SBM-DEA model.

Improving water-use efficiency (WUE) is a crucial way of achieving green industrial production and sustainable development. Applying an improved Super-slacks-based measure model with undesirable outputs, this paper investigates industrial WUE in mainland China. The results show that: (1) Industrial WUE in China is improving with the efficiency value increasing from 0.9874 to 0.9962 in 2012-2015. (2) The regions of water absolute scarcity and the vulnerability show the highest industry-related WUE, whereas the water stressed region, water scarce region, and water abundant region failed to achieve efficiency during the observation period. (3) The overall index value using the conventional model was higher than that of the improved model, indicating the need for a more reasonable water-use structure and environmentally friendly discharge structure. This study provides a new perspective for measuring industrial WUE and advances related studies by (1) incorporating the actual structure of water used and wastewater discharged with weights assigned to input and output slacks according to marginal use cost of water and marginal treatment cost of wastewater; and (2) adding realistic constraints on the amount of water used and wastewater discharged to the model. The estimated provinces in mainland China can adjust their industrial water-use structures and wastewater-discharge structures based on the results of this study, and thus improve the industrial WUE.

Synthesis of 2-Amino-5-acylthiazoles by a Tertiary Amine-Promoted One-Pot Three-Component Cascade Cyclization Using Elemental Sulfur as a Sulfur Source.

A novel one-pot three-component cascade cyclization strategy for the synthesis of 2-amino-5-acylthiazoles using enaminones, cyanamide, and elemental sulfur has been developed. The reported methods have demonstrated good tolerance of various functional groups. Up to 28 2-amino-5-acylthiazole compounds bearing diverse structural differences were successfully synthesized from easily obtained starting materials with moderate to excellent yields. Our method provides an effective way for the access of valuable and potentially bioactive 2-amino-5-acylthiazole derivatives.

Phenylephrine Attenuated Sepsis-Induced Cardiac Inflammation and Mitochondrial Injury Through an Effect on the PI3K/Akt Signaling Pathway.

OBJECTIVE: To investigate whether phenylephrine (PE) inhibits sepsis-induced cardiac dysfunction, cardiac inflammation, and mitochondrial injury through the PI3K/Akt signaling pathway. METHODS: A rat model of sepsis was established by cecal ligation and puncture. PE and/or wortmannin (a PI3K inhibitor) were administered to investigate the role of PI3K/Akt signaling in mediating the effects of PE on inhibiting sepsis-induced cardiac dysfunction, cardiac inflammation, and mitochondrial injury. Hematoxylin-eosin staining, echocardiography, and Langendorff system were used to examine the myocardial injury and function. The concentrations of TNF-α and IL-6 were analyzed by enzyme-linked immunosorbent assay. Intercellular cell adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1), myeloperoxidase, mitochondria-related fusion/fission proteins, and PI3K/Akt signaling pathway-associated proteins were analyzed by Western blotting. RESULTS: PE improved the cardiac function and survival in septic rats. PE decreased TNF-α, IL-6, ICAM-1, VCAM-1, and myeloperoxidase contents in the myocardium of septic rats. Meanwhile, PE increased the fusion-related proteins and decreased the fission-related proteins in the myocardial mitochondria of septic rats. On the other hand, PE activated the PI3K/Akt signaling pathway in the cecal ligation and puncture-treated rats, and all the protective effects of PE were abolished by wortmannin. CONCLUSIONS: PE attenuated sepsis-induced cardiac dysfunction, cardiac inflammation, and mitochondrial injury through the PI3K/Akt signaling pathway.

Stress influenced the aerotolerance of Lactobacillus rhamnosus hsryfm 1301.

OBJECTIVE: To investigate the aerotolerance of Lactobacillus rhamnosus hsryfm 1301 and its influencing factors. RESULTS: The growth rate of L. rhamnosus hsryfm 1301 weakened noticeably when the concentration of supplemented H2O2 reached 1 mM, and only 2% of all L. rhamnosus hsryfm 1301 cells survived in MRS broth supplemented with 2 mM H2O2 for 1 h. After pretreatment with 0.5 mM H2O2, the surviving cells of L. rhamnosus hsryfm 1301 in the presence of 5 mM H2O2 for 1 h increased from 3.7 to 7.8 log CFU. Acid stress, osmotic stress, and heat stress at 46 °C also enhanced its aerotolerance, while heat stress at 50 °C reduced the tolerance of L. rhamnosus hsryfm 1301 to oxidative stress. Moreover, treatment with 0.5 mM H2O2 increased the heat stress tolerance of L. rhamnosus hsryfm 1301 by approximately 150-fold. CONCLUSIONS: Lactobacillus rhamnosus hsryfm 1301 possesses a stress-inducible defense system against oxidative stress, and the cross-adaptation to different stresses is a promising target to increase the stress tolerance of L. rhamnosus hsryfm 1301 during probiotic food and starter culture production.

[A Hydride Generation-Catalytic Resonance Rayleigh Scattering Method for Detection of Trace Arsenic].

Arsenic is a toxic metal element and the establishment of a highly sensitive and selective method for As has great significance to human health and environment protection. In sulfuric acid medium, As(Ⅲ) was reduced by NaBH4 to form AsH3 gas that was trapped by the Ce(Ⅳ)-I- catalytic absorption solution to cause Ce(Ⅳ) concentration decreased and As particle increased, which resulted in the resonance Rayleigh scattering (RRS) and fluorescence increased at 370 and 351 nm respectively. The increased RRS and fluorescence intensities were linear to As(Ⅲ) concentration in the range of 0.006~0.76 and 0.006~0.28 mg·L(-1) respectively, with a detection of As of 3.0 µg·L(-1). The new hydride generation-catalytic RRS method was applied for detection of trace As(Ⅲ) in milk samples, and the results were in agreement with that of hydride generation-atomic absorption spectrometry.

Highly stable silicon oxycarbide all-solid-state batteries enabled by machined learning accelerated screening of oxides and sulfides electrolytes.

Traditional trial-error approach severely limits and restricts rapid development of high-performance anode and electrolytes materials, searching huge parameters space of various anode-solid electrolyte interfaces in an effective and efficient way is the key issue. Here, a novel computational strategy combining machine learning and first-principles is proposed to achieve efficient high-throughput screening of oxides and sulfides electrolytes for highly stable silicon oxycarbide all-solid-state batteries. First-principles calculations demonstrate significant compact of material type and elemental doping on interfacial compatibility between silicon oxycarbide and various electrolytes. By proposing several novel descriptors including interfacial adhesion and formation energies of frozen system with low computation cost, the amounts of demanded trainings data are significantly reduced. Gradient-boosted regression tree model shows low mean absolute errors of 0.09 and high R2 value of 0.99 for the prediction of interface formation energy, demonstrating ultrahigh accuracy and reliability of the algorithm. The present work discovers a series of uninvestigated stable anode-solid electrolytes interfacial couples for further experimental preparation.

Use of the Disposcope endoscope for awake orotracheal intubation in an elderly patient with a large vocal cord polyp -a case report.

BACKGROUND: Vocal cord polyps are commonly encountered in the otorhinolaryngology department. The risk of anesthesia is high in patients with large vocal cord polyps. Awake intubation with appropriate airway tools provides a favorable safety profile. CASE: We present the case of a 60-year-old male patient who had been suffering from a large vocal cord polyp for 16 years. Electronic laryngoscopy revealed that the vocal cord polyp was approximately 1.5 cm in diameter. The polyp had a pedicle and demonstrated synchronous motion with respiratory excursion. It covered almost the entire glottic area during inspiration and moved away from the glottis during expiration. A Disposcope endoscope was used for awake tracheal intubation, and the surgery was completed successfully. CONCLUSIONS: The Disposcope endoscope can be a useful option for awake orotracheal intubation in cases of anticipated difficult intubation and difficult facemask ventilation.

Prevention of high-fat-diet-induced obesity in mice by soluble dietary fiber from fermented and unfermented millet bran.

Obesity-related diabetes, cardiovascular disease, and hypertension pose many risks to human health. Thus, mice on a high-fat diet were gavaged with millet bran (unfermented/fermented) soluble dietary fiber (RSDF/FSDF, 500 mg·kg-1) for 10 weeks in current research, and then evaluated the various biological indicators. These findings revealed that RSDF and FSDF supplements could prevent fat synthesis by inhibiting sterol regulatory element-binding protein-1c gene expression. The RSDF supplements can also accelerate fat catabolism through enhanced the mRNA expression levels of adipose triglyceride lipase and peroxisome proliferator-activated receptor α. FSDF supplements can prevent obesity by decreasing 3-hydroxy-3-methyl-glutaryl-CoA reductase expression and increasing cholesterol 7α-hydroxylase expression. Moreover, FSDF also controls obesity development by lowering total cholesterol and low-density lipoprotein cholesterol levels in the blood, triglyceride, total cholesterol, and bile acid levels in the liver. Notably, FSDF supplements can promote Bacteroides and Prevotella propagation; excretive propionic acid binds to free fatty acid receptor 2/3 and then stimulates intestinal epithelial cells to generate glucagon-like-peptide-1 and peptide YY, which can reduce food and energy intake and ultimately prevent obesity. All evidence suggests that FSDF supplements play a crucial role in preventing obesity.

Detecting horizontal gene transfer with metagenomics co-barcoding sequencing.

Horizontal gene transfer (HGT) is the process through which genetic information is transferred between different genomes and that played a crucial role in bacterial evolution. HGT can enable bacteria to rapidly acquire antibiotic resistance and bacteria that have acquired resistance is spreading within the microbiome. Conventional methods of characterizing HGT patterns include short-read metagenomic sequencing (short-reads mNGS), long-read sequencing, and single-cell sequencing. These approaches present several limitations, such as short-read fragments, high amounts of input DNA, and sequencing costs, respectively. Here, we attempt to circumvent present limitations to detect HGT by developing a metagenomics co-barcode sequencing workflow (MECOS) and applying it to the human and mouse gut microbiomes. In addition to that, we have over 10-fold increased contig length compared to short-reads mNGS; we also obtained exceeding 30 million paired reads with co-barcode information. Applying the novel bioinformatic pipeline, we integrated this co-barcoding information and the context information from long reads, and observed over 50-fold HGT events after we corrected the potential wrong HGT events. Specifically, we detected approximately 3,000 HGT blocks in individual samples, encompassing ~6,000 genes and ~100 taxonomic groups, including loci conferring tetracycline resistance through ribosomal protection. MECOS provides a valuable tool for investigating HGT and advance our understanding on the evolution of natural microbial communities within hosts.IMPORTANCEIn this study, to better identify horizontal gene transfer (HGT) in individual samples, we introduce a new co-barcoding sequencing system called metagenomics co-barcoding sequencing (MECOS), which has three significant improvements: (i) long DNA fragment extraction, (ii) a special transposome insertion, (iii) hybridization of DNA to barcode beads, and (4) an integrated bioinformatic pipeline. Using our approach, we have over 10-fold increased contig length compared to short-reads mNGS, and observed over 50-fold HGT events after we corrected the potential wrong HGT events. Our results indicate the presence of approximately 3,000 HGT blocks, involving roughly 6,000 genes and 100 taxonomic groups in individual samples. Notably, these HGT events are predominantly enriched in genes that confer tetracycline resistance via ribosomal protection. MECOS is a useful tool for investigating HGT and the evolution of natural microbial communities within hosts, thereby advancing our understanding of microbial ecology and evolution.

Emergence of mcr-4.3 genes in a novel Shewanella specie isolated from the Arctic environment.

Mobile colistin resistance (mcr) genes are pivotal contributors to last-line of antimicrobial resistance in human infections. Shewanella, historically recognized as a natural environmental bacterium with metal reduction capabilities, recently has been observed in clinical settings. However, limited knowledge has been explored on genetic differences between strains from non-clinical and clinical strains. In this study, we conducted the whole genome sequencing on six Arctic strains, illustrated the phylogenetic relationships on published 393 Shewanella strains that categorized the genus into four lineages (L1 to L4). Over 86.4% of clinical strain group (CG) strains belonged to L1 and L4, carrying mcr-4 genes and a complete metal-reduction pathways gene cluster. Remarkably, a novel Arctic Shewanella strain in L3, exhibits similar genetic characteristics with CG strains that carried both mcr-4 genes and a complete metal reduction pathway gene cluster. It raised concerns about the transmission ability from environment to clinic setting causing in the potential infections, and emphasized the need for monitoring the emerging strains with human infections.

Electronic-Control Friction Behavior of Porous Metal-Organic Framework@Ag Nanocrystals as Self-Repairing Lubricant Additive.

The low conductivity and poor antifriction performance of lubricants are the main causes of wear failure in mechanical equipment under electronic-control friction. Metal-organic framework (MOF) nanocomposites can be used to fabricate a new kind of lubricant additive. Herein, porous Cu-BTC@Ag MOF nanocrystals were successfully synthesized via an in situ generation method. Transmission electron microscopy results showed that the nano-Ag element was evenly dispersed throughout the Cu-BTC matrix. Cu-BTC@Ag nanocrystals can significantly improve the electrical conductivity of the EMI-BF4 ionic liquid, which increased by 38.8%. The average coefficients of friction (COF) and wear volume of EMI-BF4 ionic liquid with 0.5 wt % Cu-BTC@Ag decreased by 8.3 and 16% without applied voltage, respectively. This finding was due to the continuous extrusion of the EMI-BF4 stored in the Cu-BTC@Ag pores under external load. It entered the contact zone, thereby maintaining the continuous supply of lubricant. At 20 V applied voltage in the friction process, the COF of the EMI-BF4/2.0wt %Cu-BTC@Ag lubricant decreased by 18.8%, and its wear volume decreased by 32.7%. The Cu-BTC@ Ag nanocrystals adsorbed onto the metal surface to form a friction reaction film by the action of electric fields, which can repair the wear defects on the friction interface. Therefore, Cu-BTC@Ag nanocrystals acting as an additive in lubricant have remarkable prospects in the area of electronic-control friction.

Novel Mutations of PAX6 and WFS1 Associated With Congenital Cataract in a Chinese Family.

BACKGROUND: Congenital cataract is a common cause of blindness in childhood. About half of the cases have a genetic etiology, and more than 100 genes have been associated with congenital cataracts. This study reports the clinical and genetic findings of a two-generation Chinese family affected by congenital cataract. METHODS: Ophthalmologic examinations were performed for clinical evaluation of the cataract patients. Whole exome sequencing (WES) and Sanger sequencing were used to identify potentially relevant mutations. The online programsProtein Variation Effect Analyzer (PROVEAN) and Sorting Intolerant from Tolerant (SIFT) were employed to predict the impact of variation on protein function. RESULTS: Both the proband and her mother were blind because of bilateral nuclear cataracts, and the elder brother of the proband also manifested obvious bilateral cataracts. Sanger sequencing confirmed the mutations in the proband as well as in her mother. The elder brother simply carried the PAX6 c.221G>A variation. The WFS1 c.2070_2079del variation potentially generates a loss-of-function mutant. CONCLUSION: The novel PAX6mutation (c.221G>A) is associated with congenital cataract, and the WFS1 mutation (c.2070_2079del) may interactively aggravates this process. These findings may increase our understanding of the genetic etiology of congenital cataract.