Research on the Welding Process and Weld Formation in Multiple Solid-Flux Cored Wires Arc Hybrid Welding Process for Q960E Ultrahigh-Strength Steel.

This paper proposes a novel welding process for ultrahigh-strength steel. The effects of welding parameters on the welding process and weld formation were studied to obtain the optimal parameter window. It was found that the metal transfer modes of solid wires were primarily determined by electrical parameters, while flux-cored wires consistently exhibited multiple droplets per pulse. The one droplet per pulse possessed better welding stability and weld formation, whereas the short-circuiting transfer or one droplet multiple pulses easily caused abnormal arc ignition that decreased welding stability, which could easily lead to a "sawtooth-shaped" weld formation or weld offset towards one side with more spatters. Thus, the electrical parameters corresponding to one droplet per pulse were identified as the optimal parameter window. Furthermore, the weld zone (WZ) was predominantly composed of AF, and the heat-affected zone (HAZ) primarily consisted of TM and LM. Consequently, the welded joint still exhibited excellent mechanical properties, particularly toughness, despite higher welding heat input. The average tensile strength reached 928 MPa, and the impact absorbed energy at -40 °C for the WZ and HAZ were 54 J and 126 J, respectively. In addition, the application of triple-wire welding for ultrahigh-strength steel (UHSS) demonstrated a significant enhancement in post-weld deposition rate, with increases of 106% and 38% compared to single-wire and twin-wire welding techniques, respectively. This process not only utilized flux-cored wire to enhance the mechanical properties of joints but also achieved high deposition rate welding.

The application of THz-TDS in the characterization of Bayan Obo magnetite ore composition.

The application of terahertz time-domain spectroscopy (THz-TDS) in the quantitative analysis of major minerals in Bayan Obo magnetite ore was explored. The positive correlation between the optical parameters of the original ore and its iron content is confirmed. The detections of three main iron containing minerals, including magnetite, pyrite, and hematite, were simulated using corresponding reagents. The random forest algorithm is used for quantitative analysis, and FeS2 is detected with precision of R2 = 0.7686 and MAE = 0.6307% in ternary mixtures. The experimental results demonstrate that THz-TDS can distinguish specific iron containing minerals and reveal the potential application value of this testing method in exploration and mineral processing fields.

Quantitative assessment whole-rock iron content in magnetite protolith based on terahertz time-domain spectroscopy: publisher's note.

This publisher's note serves to correct errors in Appl. Opt.63, 2528 (2024)APOPAI0003-693510.1364/AO.517400.

Heterozygous variants in USP25 cause genetic generalized epilepsy.

USP25 encodes ubiquitin-specific proteases 25, a key member of deubiquitinating enzyme family and is involved in neural fate determination. Although abnormal expression in Down's syndrome was reported previously, the specific role of USP25 in human diseases has not been defined. In this study, we performed trio-based whole exome sequencing in a cohort of 319 cases (families) with generalized epilepsy of unknown etiology. Five heterozygous USP25 variants including two de novo and three co-segregated variants were determined in eight individuals affected by generalized seizures and/or febrile seizures from five unrelated families. The frequency of USP25 variants showed a significantly high aggregation in this cohort compared to the East Asian population and all populations in the gnomAD database. The mean onset ages of febrile and afebrile seizures were 10 months (infancy) and 11.8 years (juvenile), respectively. The patients achieved seizure freedom except one had occasional nocturnal seizures at the last follow-up. Two patients exhibited intellectual disability. Usp25 was ubiquitously expressed in mouse brain with two peaks on embryonic days (E14‒E16) and postnatal day 21, respectively. Similarly, USP25 expressed in fetus/early childhood stage with a second peak at approximately 12‒20 years old in human brain, consistent with the seizure onset age at infancy and juvenile in the patients. To investigate the functional impact of USP25 deficiency in vivo, we established Usp25 knock-out mice, which showed increased seizure susceptibility compared to wild-type mice in pentylenetetrazol-induced seizure test. To explore the impact of USP25 variants, we employed multiple functional detections. In HEK293T cells, the severe phenotype associated variant (p.Gln889Ter) led to a significant reduction of mRNA and protein expressions but formed a stable truncated dimers with increment of deubiquitinating enzyme activities and abnormal cellular aggregations, indicating a gain-of-function effect. The p.Gln889Ter and p.Leu1045del increased neuronal excitability in mice brain, with a higher firing ability in p.Gln889Ter. These functional impairments align with the severity of the observed phenotypes, suggesting a genotype-phenotype correlation. Hence, a moderate association between USP25 and epilepsy was noted, indicating USP25 is potentially a predisposing gene for epilepsy. Our results from Usp25 null mice and the patient-derived variants indicated that USP25 would play epileptogenic role via loss-of-function or gain-of-function effects. The truncated variant p.Gln889Ter would have profoundly different effect on epilepsy. Together, our results underscore the significance of USP25 heterozygous variants in epilepsy, thereby highlighting the critical role of USP25 in the brain.

The Effects of Dietary Saccharomyces cerevisiae Supplementation on Gut Microbiota Composition and Gut Health in Aged Labrador Retrievers.

The intestinal microbiome changes with age, influencing the host's health and immune status. Saccharomyces cerevisiae (S. cerevisiae) positively affects intestinal function in humans and animals, but its effects on gut health and the microbiota profile in aged dogs have not been thoroughly investigated. Twenty aged Labrador Retrievers were divided into two groups: a control group (CON) and a S. cerevisiae group (SC). The experiment lasted for 42 days, with assessments of their intestinal barrier function, inflammatory factors, antioxidant markers, and fecal microbiome composition. The results showed that dietary S. cerevisiae reduced the levels of TNF-α, IL-6, and IL-1ß in the serum (p < 0.05). In the SC group, plasma superoxide dismutase and glutathione peroxidase activities increased, while the level of malondialdehyde significantly decreased (p < 0.05). Additionally, dietary S. cerevisiae lowered the serum zonulin and lipopolysaccharide (LPS) levels (p < 0.05) and inhibited fecal ammonia production (p < 0.05). Furthermore, the microbiota profile showed that dietary S. cerevisiae decreased the abundance of Firmicutes but increased the Chao index, the abundance of Bacteroidetes, and the proportion of Bacteroidetes to Firmicutes (p < 0.05). To conclude, dietary S. cerevisiae can regulate the gut's microbial structure and gut health, which may contribute to the overall health of companion animals as they age.

Effect of crystal-water on the optical and dielectric characteristics of calcium sulfate in the THz band.

The effect of crystal-water contents on the optical properties and dielectric characteristics of calcium sulfate in the THz band is investigated. The complex dielectric constant and conductivity are analyzed using the Drude-Smith model. The refractive index and absorption coefficient are linearly increased with the content of crystal-water, and the corresponding linear fitting lines of R2 over 0.97 are obtained. The dielectric properties of calcium sulfate are significantly affected by the crystal-water content. These results indicate that a new method to quantitative measurement of the crystal-water content in hydrous minerals is provided.

Do political connections facilitate or inhibit firms' digital transformation? Evidence from China's A-share private listed companies.

Given the advent of the digital era, digital transformation has become necessary for enterprise development. Political connections are the most important resources for enterprise development in most countries. However, the impact of political connections on corporate digital transformation has yet to be verified. This study uses ERNIE, a large language model, to construct a measurement of corporate digital transformation from the perspective of digital technology application through a textual analysis of the annual reports of A-share privately listed companies from 2008 to 2020 and analyzes the impact of political connections on corporate digital transformation and its mechanism of action. The findings demonstrate that political connections have a significant inhibitory effect on corporate digital transformation. This conclusion still holds after a series of robustness and endogeneity tests. The mechanism analyses demonstrate that political connections primarily affect corporate digital transformation through three mechanisms: weakening risk, inhibiting innovation, and enhancing resource crowding. We theoretically expand the understanding of the economic impact of political connections and provide new ideas for accelerating enterprise digital transformation from the perspective of policy makers.

Dual-plasmonic CuS@Au heterojunctions synergistic enhanced photothermal and colorimetric dual signal for sensitive multiplexed LFIA.

Multiplexed immunodetection, which achieves qualitative and quantitative outcomes for multiple targets in a single-run process, provides more sufficient results to guarantee food safety. Especially, lateral flow immunoassay (LFIA), with the ability to offer multiple test lines for analytes and one control line for verification, is a forceful candidate in multiplexed immunodetection. Nevertheless, given that single-signal mode is incredibly vulnerable to interference, further efforts should be engrossed on the combination of multiplexed immunodetection and multiple signals. Photothermal signal has sparked significant excitement in designing immunosensors. In this work, by optimizing and comparing the amount of gold, CuS@Au heterojunctions (CuS@Au HJ) were synthesized. The dual-plasmonic metal-semiconductor hybrid heterojunction exhibits a synergistic photothermal performance by increasing light absorption and encouraging interfacial electron transfer. Meanwhile, the colorimetric property is synergistic enhanced, which is conducive to reduce the consumption of antibodies and then improve assay sensitivity. Therefore, CuS@Au HJ are suitable to be constructed in a dual signal and multiplexed LFIA (DSM-LFIA). T-2 toxin and deoxynivalenol (DON) were used as model targets for the simulated multiplex immunoassay. In contrast to colloidal gold-based immunoassay, the built-in sensor has increased sensitivity by ≈ 4.42 times (colorimetric mode) and ≈17.79 times (photothermal mode) for DON detection and by ≈ 1.75 times (colorimetric mode) and ≈13.09 times (photothermal mode) for T-2 detection. As a proof-of-concept application, this work provides a reference to the design of DSM-LFIA for food safety detection.

Quantitative assessment whole-rock iron content in magnetite protolith based on terahertz time-domain spectroscopy.

Terahertz time-domain spectroscopy was first used to establish a correlation with the whole-rock iron (TFe) content in different depths of the Bayan Obo protolith. Compared with element content obtained by the traditional method of X-ray fluorescence spectroscopy (XRF), a similar tendency of the absorption coefficient and refractive index is presented. Furthermore, three machine learning algorithms, namely, partial least squares regression (PLSR), random forest (RF), and multi-layer perceptron (MLP), were used to develop a quantitative analytical model for TFe content of the protolith minerals. Among the three algorithms, MLP has the highest detection accuracy, with a model coefficient of determination R 2 reaching up to 0.945. These findings demonstrate that terahertz time-domain spectroscopy can be used to rapidly quantify the TFe elemental content of protolith, providing a method of detecting the content of mineral components.

Insulin-like growth factor-1 promotes the testicular sperm production by improving germ cell survival and proliferation in high-fat diet-treated male mice.

BACKGROUND: A decrease in semen volume among men is comparable to the rising prevalence of obesity worldwide. The anabolic hormone insulin-like growth factor-1 (IGF-1) can promote proliferation and differentiation in cultured mouse spermatogonial stem cells and alleviate abnormal in vitro spermatogenesis. Additionally, serum IGF-1 level is negatively correlated with body mass index. Whereas the role of IGF-1 in the sperm production in obese men remains unclear. OBJECTIVE: To investigate the therapeutic effect and potential mechanism of IGF-1 on spermatogenesis of high-fat diet (HFD)-induced obesity mice. METHODS: An HFD-induced obesity mouse model was established. Alterations in testicular morphology, sperm count, proliferation, and apoptosis were observed by H&E staining,immunohistochemistry, immunofluorescence, and Western blotting. Exogenous recombinant IGF-1 was administered to obese mice to investigate the correlations between altered testicular IGF-1 levels and sperm production. RESULTS: The sperm count was reduced, the testicular structure was disordered, and sex hormone levels were abnormal in HFD-fed mice compared with normal diet-fed mice. The expression of proliferation-related antigens such as proliferating cell nuclear antigen (PCNA) and Ki-67 was decreased, while that of proapoptotic proteins such as c-caspase3 was increased in testes from HFD-fed mice. Most importantly, the phosphorylation of insulin-like growth factor-1 receptor (IGF-1R) in testes was decreased due to reductions in IGF-1 from hepatocytes and Sertoli cells. Recombinant IGF-1 alleviated these functional impairments by promoting IGF-1R, Akt, and Erk1/2 phosphorylation in the testes. CONCLUSIONS: Insufficient IGF-1/IGF-1R signaling is intimately linked to damaged sperm production in obese male mice. Exogenous IGF-1 can improve survival and proliferation as well as sperm production. This study provides a novel theoretical basis and a target for the treatment of obese men with oligozoospermia.

Novel 3D-based deep learning for classification of acute exacerbation of idiopathic pulmonary fibrosis using high-resolution CT.

PURPOSE: Acute exacerbation of idiopathic pulmonary fibrosis (AE-IPF) is the primary cause of death in patients with IPF, characterised by diffuse, bilateral ground-glass opacification on high-resolution CT (HRCT). This study proposes a three-dimensional (3D)-based deep learning algorithm for classifying AE-IPF using HRCT images. MATERIALS AND METHODS: A novel 3D-based deep learning algorithm, SlowFast, was developed by applying a database of 306 HRCT scans obtained from two centres. The scans were divided into four separate subsets (training set, n=105; internal validation set, n=26; temporal test set 1, n=79; and geographical test set 2, n=96). The final training data set consisted of 1050 samples with 33 600 images for algorithm training. Algorithm performance was evaluated using accuracy, sensitivity, specificity, positive predictive value, negative predictive value, receiver operating characteristic (ROC) curve and weighted κ coefficient. RESULTS: The accuracy of the algorithm in classifying AE-IPF on the test sets 1 and 2 was 93.9% and 86.5%, respectively. Interobserver agreements between the algorithm and the majority opinion of the radiologists were good (κw=0.90 for test set 1 and κw=0.73 for test set 2, respectively). The ROC accuracy of the algorithm for classifying AE-IPF on the test sets 1 and 2 was 0.96 and 0.92, respectively. The algorithm performance was superior to visual analysis in accurately diagnosing radiological findings. Furthermore, the algorithm's categorisation was a significant predictor of IPF progression. CONCLUSIONS: The deep learning algorithm provides high auxiliary diagnostic efficiency in patients with AE-IPF and may serve as a useful clinical aid for diagnosis.

Precise Spectral Overlap-Based Donor-Acceptor Pair for a Sensitive Traffic Light-Typed Bimodal Multiplexed Lateral Flow Immunoassay.

Bimodal-type multiplexed immunoassays with complementary mode-based correlation analysis are gaining increasing attention for enhancing the practicability of the lateral flow immunoassay (LFIA). Nonetheless, the restriction in visually indistinguishable multitargets induced by a single fluorescent color and difficulty in single acceptor ineffectual fluorescence quenching due to the various spectra of multiple different donors impede the further execution of colorimetric-fluorescence bimodal-type multiplexed LFIAs. Herein, the precise spectral overlap-based donor-acceptor pair construction strategy is proposed by regulating the size of the nanocore, coating it with an appropriate nanoshell, and selecting a suitable fluorescence donor with distinct colors. By in situ coating Prussian blue nanoparticles (PBNPs) on AuNPs with a tunable size and absorption spectrum, the resultant APNPs demonstrate efficient fluorescence quenching ability, higher colloidal stability, remarkable colorimetric intensity, and an enhanced antibody coupling efficiency, all of which facilitate highly sensitive bimodal-type LFIA analysis. Following integration with competitive-type immunoreaction, this precise spectral overlap-supported spatial separation traffic light-typed colorimetric-fluorescence dual-response assay (coined as the STCFD assay) with the limits of detection of 0.013 and 0.152 ng mL-1 for ractopamine and clenbuterol, respectively, was proposed. This work illustrates the superiority of the rational design of a precise spectral overlap-based donor-acceptor pair, hinting at the enormous potential of the STCFD assay in the point-of-care field.

NUS1 Variants Cause Lennox-Gastaut Syndrome Related to Unfolded Protein Reaction Activation.

NUS1 encodes the Nogo-B receptor, a critical regulator for unfolded protein reaction (UPR) signaling. Although several loss-of-function variants of NUS1 have been identified in patients with developmental and epileptic encephalopathy (DEE), the role of the NUS1 variant in Lennox-Gastaut syndrome (LGS), a severe child-onset DEE, remains unknown. In this study, we identified two de novo variants of NUS1, a missense variant (c.868 C > T/p.R290C) and a splice site variant (c.792-2 A > G), in two unrelated LGS patients using trio-based whole-exome sequencing performed in a cohort of 165 LGS patients. Both variants were absent in the gnomAD population and showed a significantly higher observed number of variants than expected genome-wide. The R290C variant was predicted to damage NUS1 and decrease its protein stability. The c.792-2 A > G variant caused premature termination of the protein. Knockdown of NUS1 activated the UPR pathway, resulting in apoptosis of HEK293T cells. Supplementing cells with expression of wild-type NUS1, but not the mutant (R290C), rescued UPR activation and apoptosis in NUS1 knockdown cells. Compared to wild-type Drosophila, seizure-like behaviors and excitability in projection neurons were significantly increased in Tango14 (homolog of human NUS1) knockdown and Tango14R290C/+ knock-in Drosophila. Additionally, abnormal development and a small body size were observed in both mutants. Activated UPR signaling was also detected in both mutants. Thus, NUS1 is a causative gene for LGS with dominant inheritance. The pathogenicity of these variants is related to the UPR signaling activation, which may be a common pathogenic mechanism of DEE.

The gene expression of CALD1, CDH2, and POSTN in fibroblast are related to idiopathic pulmonary fibrosis.

Introduction: Idiopathic pulmonary fibrosis (IPF) is characterized by progressive lung dysfunction due to excessive collagen production and tissue scarring. Despite recent advancements, the molecular mechanisms remain unclear. Methods: RNA sequencing identified 475 differentially expressed genes (DEGs) in the TGF-ß1-induced primary lung fibrosis model. Gene expression chips GSE101286 and GSE110147 from NCBI gene expression omnibus (GEO) database were analyzed using GEO2R, revealing 94 DEGs in IPF lung tissue samples. The gene ontology (GO) and pathway enrichment, Protein-protein interaction (PPI) network construction, and Maximal Clique Centrality (MCC) scoring were performed. Experimental validation included RT-qPCR, Immunohistochemistry (IHC), and Western Blot, with siRNA used for gene knockdown. A co-expression network was constructed by GeneMANIA. Results: GO enrichment highlighted significant enrichment of DEGs in TGF-ß cellular response, connective tissue development, extracellular matrix components, and signaling pathways such as the AGE-RAGE signaling pathway and ECM-receptor interaction. PPI network analysis identified hub genes, including FN1, COL1A1, POSTN, KIF11, and ECT2. CALD1 (Caldesmon 1), CDH2 (Cadherin 2), and POSTN (Periostin) were identified as dysregulated hub genes in both the RNA sequencing and GEO datasets. Validation experiments confirmed the upregulation of CALD1, CDH2, and POSTN in TGF-ß1-treated fibroblasts and IPF lung tissue samples. IHC experiments probed tissue-level expression patterns of these three molecules. Knockdown of CALD1, CDH2, and POSTN attenuated the expression of fibrotic markers (collagen I and α-SMA) in response to TGF-ß1 stimulation in primary fibroblasts. Co-expression analysis revealed interactions between hub genes and predicted genes involved in actin cytoskeleton regulation and cell-cell junction organization. Conclusions: CALD1, CDH2, and POSTN, identified as potential contributors to pulmonary fibrosis, present promising therapeutic targets for IPF patients.

A Review on Engineering Design for Enhancing Interfacial Contact in Solid-State Lithium-Sulfur Batteries.

The utilization of solid-state electrolytes (SSEs) presents a promising solution to the issues of safety concern and shuttle effect in Li-S batteries, which has garnered significant interest recently. However, the high interfacial impedances existing between the SSEs and the electrodes (both lithium anodes and sulfur cathodes) hinder the charge transfer and intensify the uneven deposition of lithium, which ultimately result in insufficient capacity utilization and poor cycling stability. Hence, the reduction of interfacial resistance between SSEs and electrodes is of paramount importance in the pursuit of efficacious solid-state batteries. In this review, we focus on the experimental strategies employed to enhance the interfacial contact between SSEs and electrodes, and summarize recent progresses of their applications in solid-state Li-S batteries. Moreover, the challenges and perspectives of rational interfacial design in practical solid-state Li-S batteries are outlined as well. We expect that this review will provide new insights into the further technique development and practical applications of solid-state lithium batteries.

Analysis of Rumen Degradation Characteristics, Attached Microbial Community, and Cellulase Activity Changes of Garlic Skin and Artemisia argyi Stalk.

The purpose of this study was to study the chemical composition, rumen degradation characteristics, surface attached microbial community and cellulase activity of garlic skin (GS) and Artemisia argyi stalk (AS), in order to explain their feeding value. Four 14-month-old healthy Min Dong male goats with permanent rumen fistula were selected as experimental animals. The rumen degradation characteristics of GS and AS were determined by using the nylon bag method, and the bacterial composition, cellulase activity and their relationship on the surface of the two groups were analyzed with high-throughput sequencing of 16S rRNA gene. The results showed that in GS and AS, the effective degradation rate (ED) values of dry matter (DM) were 42.53% and 37.12%, the ED values of crude protein (CP) were 37.19% and 43.38%, the ED values of neutral detergent fiber (NDF) were 36.83% and 36.23%, and the ED values of acid detergent fiber (ADF) were 33.81% and 34.77%. During rumen degradation, the richness and evenness of bacteria attached to the AS surface were higher. At the phylum level, Bacteroidetes and Firmicutes were always the main rumen bacteria in the two groups. At the genus level, fiber-degrading bacteria such as Prevotella, Treponema, and Ruminococcus showed higher levels in GS (p < 0.05). Compared with GS, the activity of ß-glucosidase (BG enzyme), endo-ß-1,4-glucanase (C1 enzyme), exo-ß-1,4-glucanase (Cx enzyme) and neutral xylanase (NEX enzyme) attached to AS surface showed a higher trend. Correlation analysis showed that the relative abundance of Succinivibrio and Rikenellaceae_RC9_gut_group was positively correlated with the rumen degradability of nutrients in GS, and the relative abundance of Christensenellaceae R-7_group, Succinivibrio and Ruminococcus was positively correlated with the rumen degradability of nutrients in AS. The conclusion of this study shows that AS has more potential to become ruminant roughage than GS. In addition, this study also revealed the relationship between cellulase activity and bacteria, which provided new information for us to better analyze the effects of GS and AS on the rumen of ruminants and provided an important theoretical basis for the development and utilization of agricultural by-products.

On-site detection of Sporothrix globosa using immunoglobulin Y, magnetic separation and loop-mediated isothermal amplification.

BACKGROUND: Sporothrix globosa (S. globosa) is an agricultural activity-related but neglected pathogenic fungus responsible for sporotrichosis. Timely detection is crucial for managing and preventing its spread. However, due to the lack of efficient recognition elements for enriching S. globosa, the current approaches for detecting S. globosa are not simple and/or sensitive enough. This hinders their wider application of fast screening. RESULTS: Herein, we successfully prepared immunoglobulin Y (IgY) targeting S. globosa, and developed a rapid and accurate detection method, improving upon current limited and inadequate detection approaches. Our method combined the use of IgY and loop-mediated isothermal amplification (LAMP) to enhance detection sensitivity and specificity simultaneously. The IgY was fabricated on magnetic beads to specifically concentrate S. globosa in samples, while LAMP amplified the captured target after simple boiling DNA extraction. By using our method, as low as 4.66 × 102 Cells mL-1S. globosa was accurately detected in soil and corn straw samples. We further integrated this assay into a portable toolbox for sample-to-result detection in resource-limited areas. By using this toolbox, we have colorimetrically detected soil and corn straw samples contaminated by S. globosa, suggesting the promising on-site detection potential. SIGNIFICANCE AND NOVELTY: A new IgY recognizing S. globosa was prepared. Through the combination of IgY enrichment and LAMP amplification, the detection sensitivity and specificity were improved simultaneously. This method eliminated thermal cycling, simplified the operation, and reduced the analysis time. Compared to existing methods, our approach is more suitable for on-site detection and can significantly improve public health responses to sporotrichosis outbreaks.

MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.

OBJECTIVES: The MED12 gene encodes mediator complex subunit 12, which is a component of the mediator complex involved in the transcriptional regulation of nearly all RNA polymerase II-dependent genes. MED12 variants have previously been associated with developmental disorders with or without nonspecific intellectual disability. This study aims to explore the association between MED12 variants and epilepsy. MATERIALS AND METHODS: Trios-based whole-exome sequencing was performed in a cohort of 349 unrelated cases with partial (focal) epilepsy without acquired causes. The genotype-phenotype correlations of MED12 variants were analyzed. RESULTS: Five hemizygous missense MED12 variants, including c.958A>G/p.Ile320Val, c.1757G>A/p.Ser586Asn, c.2138C>T/p.Pro713Leu, c.3379T>C/p.Ser1127Pro, and c.4219A>C/p.Met1407Leu were identified in five unrelated males with partial epilepsy. All patients showed infrequent focal seizures and achieved seizure free without developmental abnormalities or intellectual disability. All the hemizygous variants were inherited from asymptomatic mothers (consistent with the X-linked recessive inheritance pattern) and were absent in the general population. The two variants with damaging hydrogen bonds were associated with early-onset seizures. Further genotype-phenotype analysis revealed that congenital anomaly disorder (Hardikar syndrome) was associated with (de novo) destructive variants in an X-linked dominant inheritance pattern, whereas epilepsy was associated with missense variants in an X-linked recessive inheritance pattern. Phenotypic features of intellectual disability appeared as the intermediate phenotype in terms of both genotype and inheritance. Epilepsy-related variants were located at the MED12-LCEWAV domain and the regions between MED12-LCEWAV and MED12-POL. CONCLUSION: MED12 is a potentially causative gene for X-linked recessive partial epilepsy without developmental or intellectual abnormalities. The genotype-phenotype correlation of MED12 variants explains the phenotypic variations and can help the genetic diagnosis.

Goat anti-mouse immunoglobulin as "crosslinker" assisted signal tracer assemble with intensive antibody utilization efficiency for sensitive paper-based strip nanobiosensors.

Engineered collaborative biochemical techniques and regulated nanomaterials (NMs) offer extraordinary opportunities for improving the analysis performance of lateral flow immunoassay (LFIA). Herein, inspired by the ability of macromolecules (e.g., proteins) to assemble into new functional units and the remarkable optical performance of engineered regulated NMs, goat anti-mouse immunoglobulin (GAMI) serves as the "crosslinker" integrate with gold­manganese oxide (Au-MnOx) to assemble the "signal tracers (STs)-crosslinker-antibody (mAb)" for elevating the mAb utilization efficiency. Notably, the "STs-crosslinker-mAb" assembly shows ~13.33-folds mAb utilization efficiency enhance, which perfectly response the challenge between limited sensitivity and sufficient signal intensity in competitive-type LFIA. The black color and rough structure of Au-MnOx offer higher colorimetric brightness (~2-folds than AuNPs) and enhanced mAb coupling efficiency (up to 92.47%), which further improves sensitivity under the premise of functional assembly to intensify the competitive immunoreaction. Additionally, the convenient synthesis conditions (~13 min at room temperature) even comparable to direct purchase commercial products indicate that using Au-MnOx undoubtedly increases the cost-effectiveness. Encouragingly, the Au-MnOx-GAMI-mAb based LFIA exhibited high sensitivity (LOD: 0.063 ng mL-1 for clenbuterol (CLE) monitoring) by elevating mAb utilization efficiency with the attendant enhancing immune competition response in a cost-effective manner, which provides an invigorating reference pathway in point-of-care immunoassay.

Integrating key generation and distribution with the quantum noise stream cipher system without compromising the transmission performance.

We propose and experimentally demonstrate a secure quantum noise stream cipher transmission system that integrates key generation and distribution. At the stage of carrier phase recovery, the estimated phase noise is used to generate randomness keys without additional equipment. Based on direct sequence spread spectrum technology, we integrate the distributed keys with quantum noise stream cipher signals. The key distribution and encryption transmission can be completed simultaneously without occupying additional bandwidth or time slots. By changing the position of distributed keys in the encryption base, the BER performance of QAM/QNSC signals cannot be affected by the keys. Experimental results demonstrate that the 54.5 Mbps key distribution and 31 Gbps encryption transmission without OSNR penalty can be achieved simultaneously over a 120 km standard single-mode fiber.