Micromorphology reformation of regenerated cellulose nanofibers from corn (Zea Mays) stalk pith in urea solution with high-speed shear induced.

Nanocellulose is a kind of renewable natural polymer material with high specific surface area, high crystallinity, and strong mechanical properties. RC nanofibers (RCNFs) have attracted an increasing attention in various applications due to their high aspect ratio and good flexibility. Herein, a novel and facile strategy for RCNFs preparation with high-speed shear induced in urea solution through "bottom-up" approach was proposed in this work. Results indicated that the average diameter and yield of RCNF was approach to 136.67 nm and 53.3 %, respectively. Meanwhile, due to the regular orientation RC chains and arrangement micro-morphology, RCNFs exhibited high crystallinity, strong mechanical properties, stable thermal degradation performance, and excellent UV resistance. In this study, a novel regeneration process with high-speed shear induced was developed to produce RCNFs with excellent properties. This study paved a strategy for future low-energy production of nanofibers and high value-added conversion applications of agricultural waste.

Association Between Concerns About COVID-19 Infection and Blood Donation Intention: Cross-Sectional Survey Study Through a Mobile Communication Platform.

BACKGROUND: The ongoing COVID-19 pandemic has had an unprecedented impact on blood transfusion and collection. At the beginning of the pandemic, most blood transfusion services had a tough challenge in maintaining an optimal blood inventory. OBJECTIVE: This study aims to understand the public's psychological cognition and intention toward blood donation as well as the factors influencing their worries. We aimed to find a solution for increasing blood donations and provide a scientific reference for policy formulation regarding blood donation during the COVID-19 pandemic and in the future. METHODS: A random survey with a 14-item scale on worries related to blood donation was conducted from December 31, 2022, to January 3, 2023, among residents aged 18-60 years in Zhejiang province via SMS text messaging. The results of 8 worry items in this study were compared with the survey results of March 2022, during which COVID-19 was not considered as an epidemic in Zhejiang province. Chi-square test and logistic regression analysis were performed to analyze the factors affecting respondents' blood donation intention and concerns. The degree of worry about blood donation was assigned from 1 (completely disagree) to 5 (completely agree), and 2-sided t tests were performed to analyze the differences in blood donation intention and worries about blood donation. RESULTS: In total, 1254 valid questionnaire responses were obtained. Males accounted for 62.36% (782/1254) of the sample, 78.39% (983/1254) were 18-45 years old, 60.61% (760/1254) had a university education, and 69.06% (866/1254) had no previous blood donation experience. Approximately 36.52% (458/1254) of the public clearly expressed that they had blood donation worries regarding COVID-19. The main concerns of the respondents were temporary physical weakness caused by blood donation, their own physical conditions not meeting the requirements of blood donation, inconvenient location and working hours for blood donation, and family (or friends) worrying about blood donation. Compared with the results in 2022, the results in 2023 regarding the harmful effects of blood donation on health, temporary physical weakness, infection in donated blood, and family (friends) worrying increased significantly (P<.001). The factors influencing blood donation worries regarding COVID-19 were COVID-19 infection status, adverse reactions to the donated blood, family (or friends) worrying, and unsatisfactory blood donation experience. The factors influencing blood donation intention were gender, age, previous blood donation times, blood donation worries regarding COVID-19, harmful effects of blood donation on health, and blood donation anxiety. CONCLUSIONS: Blood transfusion services should make full use of the recovery phase of COVID-19 infection as an important time point, publicize the blood donation process and operation standardization, reduce the public's concerns about blood donation, correct negative evaluations, and increase perceived behavioral control and subjective norms.

C-terminally encoded peptides act as signals to increase cotton root nitrate uptake under nonuniform salinity.

Soil salinity is often heterogeneous in saline fields. Nonuniform root salinity increases nitrate uptake into cotton (Gossypium hirsutum) root portions exposed to low salinity, which may be regulated by root portions exposed to high salinity through a systemic long-distance signaling mechanism. However, the signals transmitted between shoots and roots and their precise molecular mechanisms for regulating nitrate uptake remain unknown. Here, we showed that nonuniform root salinity treatment using split-root systems increases the expression of C-TERMINALLY ENCODED PEPTIDE (GhCEP) genes in high-saline-treated root portions. GhCEP peptides originating in high-saline-treated root portions act as ascending long-distance mobile signals transported to the shoots to promote the expression of CEP DOWNSTREAM (GhCEPD) genes by inducing the expression of CEP receptor (GhCEPR) genes. The shoot-derived GhCEPD polypeptides act as descending mobile signals transported to the roots through the phloem, increasing the expression of nitrate transport genes NITRATE TRANSPORTER 1.1 (GhNRT1.1), GhNRT2.1, and GhNRT1.5 in nonsaline-treated root portions, thereby increasing nitrate uptake in the nonsaline-treated root portions. This study indicates that GhCEP and GhCEPD signals are transported between roots and shoots to increase nitrate uptake in cotton, and the transport from the nonsaline root side is in response to nonuniform root salinity distribution.

A dual pH- and temperature-responsive hydrogel produced in situ crosslinking of cyclodextrin-cellulose for wound healing.

Cellulose hydrogels have gained attention in the field of wound healing due to their biodegradability, biocompatibility, and the capacity to sustain a humid environment that promotes healing. Conventional cellulose hydrogels were usually lacked responsiveness to changing wound conditions, and limited capacity for controlled release of active substances. The composite hydrogels with Berberine (BBR) loading were prepared from bamboo parenchymal cellulose and in situ crosslinking carboxylated-ß-cyclodextrin (BPCH-B) via dissolution. The inclusion of BBR enhanced the antibacterial properties of cellulose hydrogel while maintaining biocompatibility and drug delivery capabilities. The dual-responsive dressing was demonstrated to modulate drug release kinetics in accordance with the pH and temperature conditions prevailing within the wound site. Specifically, study exhibited a significant increase in drug release (over 70 %) under alkaline pH (7.6) and temperature (40 °C) conditions. Full-thickness wound healing experiments indicated that BPCH-B had better healing ability, and the wound healing area of BPCH-B treated was 80 % within 12 days, while the control group was only 50 %. This strategy for generating functional wound healing can be further control release of drug compounds for treatment of wounds, enabling development of practical wound care materials.

Comparative investigation of various modification methods on Trachypenaeus Curvirostris surimi gel: Gelling properties, rheological behaviors and structure characteristics.

The aim of this study was to compare the investigations of various contents of egg white protein (2.0%-8.0%, EWP), microbial transglutaminase (0.1%-0.4%, MTGase), and konjac glucomannan (0.5%-2.0%, KGM) on the gelling properties and rheological behavior of Trachypenaeus Curvirostris shrimp surimi gel (SSG), and assessed the modification mechanisms through the analysis of structure characteristics. The findings suggested that all modified SSG samples (expect SSG-KGM2.0% ) had the higher gelling properties and the denser network structure than those of unmodified SSG. Meanwhile, EWP could give SSG a better appearance than MTGase and KGM. Rheological results showed that SSG-EWP6% and SSG-KGM1.0% had the highest G' and G″, demonstrating that the formation of higher levels of elasticity and hardness. All modifications could increase gelation rates of SSG along with the reduction of G″ during the degeneration of protein. According to the FTIR results, three modification methods changed SSG protein conformation with the increasing α-helix and ß-sheet contents and the decreasing of random coil content. LF-NMR results indicated that more free water could be transformed into immobilized water in the modified SSG gels, which contributed to improve the gelling properties. Furthermore, molecular forces showed that EWP and KGM could further increase the hydrogen bonds and hydrophobic interaction in SSG gels, while MTGase could induce the formation of more disulfide bonds. Thus, compared with another two modifications, EWP modified SSG gels showed the highest gelling properties.

R-AP's position-domain model for an RO-receiver and AP placement strategy for an uninterrupted link between the robotic arm and AP in the VLC network.

In the visible light communication (VLC) network, the optical link between the robotic arm and the access point (AP) is easily interrupted due to the random orientation of the receiver on the robotic arm. First, based on the VLC channel model, a position-domain model of reliable AP (R-AP) for a random-orientation receiver (RO-receiver) is proposed. The channel gain of the VLC link between the receiver and the R-AP is non-zero. The tilt-angle range of the RO-receiver is [0,π]. Given the field of view (FOV) angle and the orientation of the receiver, the R-AP's position domain of the receiver can be obtained by this model. Then, based on the R-AP's position-domain model for the RO-receiver, a novel AP placement strategy is proposed. Under this AP placement strategy, the number of R-APs for the RO-receiver is not less than 1, thereby effectively avoiding link interruption caused by the random orientation of receivers. Finally, it is proved by the Monte Carlo method that, under the AP placement strategy proposed in this paper, the VLC link of the receiver on the robotic arm can remain uninterrupted during the movement of the robotic arm.

Light induced shoot-sourced transcription factor HY5 regulates the nitrate uptake of cotton by shoot-to-root signal transport.

Elongated hypocotyls 5 (HY5) is a transcription factor that can be induced by illumination and promotes nitrate uptake in Arabidopsis. However, whether GhHY5 regulates nitrate uptake in cotton is unknown. In this study, the cotton seedlings growing in light and dark conditions were treated with 15N-labeled nutrient solution to study whether the GhHY5 regulates nitrate uptake in cotton. The results showed that the 15N content and GhNRT1.1 expression in the light condition were higher than that in the dark condition, indicating that light induced the expression of GhNRT1.1 and subsequently promoted N uptake. Additionally, the expression of GhHY5 in the leaf and root of cotton was induced by light and the expression pattern of GhHY5 in the root was similar to that of GhNRT1.1. Furthermore, when the GhHY5 expression in the root was reduced, the 15N content and GhNRT1.1 expression were both decreased, indicating that the GhNRT1.1 expression was regulated by GhHY5. The root expression of GhHY5 was decreased in the grafted seedlings which the GhHY5 in the shoot was silenced by VIGS or the seedlings which the hypocotyl was girdled, but the expression of GhHY5 on one side root of the grafted cotton seedling was not changed if the GhHY5 was silenced on the other side root. Thus, we proposed that the light induced shoot-derived GhHY5 gene or GhHY5 protein may be transported from the xylem to the root, regulating the expression of GhHY5 and GhNRT1.1, and thus regulating N uptake at the root of cotton.

Prevalence Patterns and Onset Prediction of High Myopia for Children and Adolescents in Southern China via Real-World Screening Data: Retrospective School-Based Study.

BACKGROUND: Patients with high myopia have an increased lifetime risk of complications. The prevalence patterns of high myopia in children and adolescents in southern China are unclear. Early identification of high-risk individuals is critical for reducing the occurrence and development of high myopia and avoiding the resulting complications. OBJECTIVE: This study aimed to determine the prevalence of high myopia in children and adolescents in southern China via real-world screening data and to predict its onset by studying the risk factors for high myopia based on machine learning. METHODS: This retrospective school-based study was conducted in 13 cities with different gross domestic products in southern China. Through data acquisition and filtering, we analyzed the prevalence of high myopia and its association with age, school stage, gross domestic product, and risk factors. A random forest algorithm was used to predict high myopia among schoolchildren and then assessed in an independent hold-out group. RESULTS: There were 1,285,609 participants (mean age 11.80, SD 3.07, range 6-20 years), of whom 658,516 (51.2%) were male. The overall prevalence of high myopia was 4.48% (2019), 4.88% (2020), and 3.17% (2021), with an increasing trend from the age of 11 to 17 years. The rates of high myopia increased from elementary schools to high schools but decreased at all school stages from 2019 to 2021. The coastal and southern cities had a higher proportion of high myopia, with an overall prevalence between 2.60% and 5.83%. Age, uncorrected distance visual acuity, and spherical equivalents were predictive factors for high myopia onset in schoolchildren. The random forest algorithm achieved a high accuracy of 0.948. The area under the receiver operator characteristic curve (AUC) was 0.975. Both indicated sufficient model efficacy. The performance of the model was validated in an external test with high accuracy (0.971) and a high AUC (0.957). CONCLUSIONS: High myopia had a high incidence in Guangdong Province. Its onset in children and adolescents was well predicted with the random forest algorithm. Efficient use of real-world data can contribute to the prevention and early diagnosis of high myopia.

Classification molecular subtypes of hepatocellular carcinoma based on PRMT-related genes.

Background: Recent studies highlighted the functional role of protein arginine methyltransferases (PRMTs) catalyzing the methylation of protein arginine in malignant progression of various tumors. Stratification the subtypes of hepatocellular carcinoma (HCC) is fundamental for exploring effective treatment strategies. Here, we aim to conduct a comprehensive analysis of PRMTs with bioinformatic tools to identify novel biomarkers for HCC subtypes classification and prognosis prediction, which may be potential ideal targets for therapeutic intervention. Methods: The expression profiling of PRMTs in HCC tissues was evaluated based on the data of TCGA-LIHC cohort, and further validated in HCC TMA cohort and HCC cell lines. HCC was systematically classified based on PRMT family related genes. Subsequently, the differentially expressed genes (DEGs) between molecular subtypes were identified, and prognostic risk model were constructed using least absolute shrinkage and selection operator (LASSO) and Cox regression analysis to evaluate the prognosis, gene mutation, clinical features, immunophenotype, immunotherapeutic effect and antineoplastic drug sensitivity of HCC. Results: PRMTs expression was markedly altered both in HCC tissues and HCC cell lines. Three molecular subtypes with distinct immunophenotype were generated. 11 PRMT-related genes were enrolled to establish prognostic model, which presented with high accuracy in predicting the prognosis of two risk groups in the training, validation, and immunotherapy cohort, respectively. Additionally, the two risk groups showed significant difference in immunotherapeutic efficacy. Further, the sensitivity of 72 anticancer drugs was identified using prognostic risk model. Conclusion: In summary, our findings stratified HCC into three subtypes based on the PRMT-related genes. The prognostic model established in this work provide novel insights into the exploration of related therapeutic approaches in treating HCC.

Feasibility of seismic wave communication using electromagnetic vibrator under strong environmental noise interference: Field experimental research.

Although various wired or wireless communication facilities play a significant role in underground mine production monitoring and disaster warning, some communication nodes will be damaged when an accident occurs, resulting in unreliable emergency communications. Due to the excellent transmission characteristics of seismic waves in the earth channel, there is no need for the seismic wave communication system to set up relay nodes. Since seismic waves are not easily disturbed by the external environment, they can be used as a new type of emergency communication carrier to realize information transmission. However, under strong background noise interference in a real environment, the feasibility of seismic wave communication using an electromagnetic vibrator is not yet known. Therefore, a field experiment research on electromagnetic vibrator seismic wave communication was conducted. First, the model of electromagnetic vibrator seismic wave communication was established. In addition, the on-off keying modulation method, the cross-correlation segment threshold demodulation method, and the noise suppression method based on the time-frequency characteristics of the carrier were introduced. Finally, an electromagnetic vibrator seismic wave communication system was built, and binary data communication up to 72 m without deploying additional relay nodes was achieved successfully. The experimental results illustrate the feasibility of the electromagnetic vibrator seismic wave communication under strong background noise interference in a real environment. Furthermore, combined with the characteristics of the seismic wave, the time-frequency slice filtering can significantly improve the signal-to-noise ratio of the seismic wave and can further increase the communication distance with respect to the traditional methods.

All-cellulose air filter composed with regenerated nanocellulose prepared through a facile method with shear-induced.

High-speed shear system is usually used for the dispersion improvement of slurry, nanomaterials preparation, and even two-dimensional materials production. However, there is barely study that focused on the regenerated cellulose (RC) which was coagulated with shear induced. In this work, a new type of all-cellulose air filter was fabricated through high-speed shear in aqueous regeneration system using parenchyma cellulose from corn stalk. The obtained RC were aggregated by ribbon-like fine cellulose and nanocellulose sheets. The study exhibited the micro-structure of RC displayed excellent unidirectional alignment and a relatively high crystallinity. All-cellulose air filter which was produced via RC presented excellent filtration efficiency (PM2.5 97.3 %, PM10.0 97.7 %) with slightly pressure drop (19 Pa). Therefore, this work provides a facile method to obtain a novel RC with nanocellulose particles used for air filtration, which gives an effective strategy application in the conversion of all-cellulose materials from agricultural waste.

Web-Based Short Video Intervention and Short Message Comparison of Repeat Blood Donation Behavior Based on an Extended Theory of Planned Behavior: Prospective Randomized Controlled Trial Study.

BACKGROUND: Although blood is an indispensable and important resource for clinical treatment, an imbalance between supply and demand may occur as the population ages and diversifies. Studies indicate that repeat blood donors are safe blood sources because of their voluntary blood donation education and frequent blood screening. However, the high rate of reduction in the number of first-time voluntary blood donors and low rate of repeated blood donation are common problems worldwide. OBJECTIVE: This study aimed to evaluate the effect of an intervention in nonregular blood donors using web-based videos and SMS text messages, in which the former was guided by the extended theory of planned behavior, to discover effective intervention methods to improve repeat blood donation rates among nonregular blood donors. METHODS: A total of 692 nonregular blood donors in Zhejiang province were randomly divided into intervention and control groups. The control group received regular, short reminder messages for a 6-month period, whereas the intervention group received web-based videos on the WeChat platform. The intervention group was guided by an extended theory of planned behavior, which included 9 factors: the respondents' attitude, subjective behavioral norms, perceived behavioral control, the willingness to donate blood, outcome expectations, self-identity, blood donation-related anxiety, cognition of the blood donation environment, and previous blood donation experience. The intervention group was divided into 2 stages: those with an intervention at 3 months and those with a follow-up 3 months later. After 6 months, the redonation rate was evaluated for the 2 groups, and the scale in the intervention group was determined both before and after the intervention. A t test, chi-square test, logistic stepwise regression, and ANOVA were performed. RESULTS: The intervention group's redonation rate was 16.14%, which was significantly higher than the control group's redonation rate of 5.16%; P<.001. Men who were aged 31 to 45 years and had donated blood twice had a higher redonation rate after the web-based video intervention than after the SMS text messages; P<.05. The repeat donors' improved blood donation anxiety (P=.01), outcome expectations (P=.008), and cognition of the blood donation environment (P=.005) after the intervention were significantly higher than those of the nonrepeat donors. CONCLUSIONS: The web-based short video intervention based on the extended theory of planned behavior can effectively improve redonation rates. Outcome expectations, blood donation anxiety, and cognition of the blood donation environment can directly influence irregular blood donors to redonate blood.

Current and Perspective Sensing Methods for Monkeypox Virus.

The outbreak of the monkeypox virus (MPXV) in non-endemic countries is an emerging global health threat and may have an economic impact if proactive actions are not taken. As shown by the COVID-19 pandemic, rapid, accurate, and cost-effective virus detection techniques play a pivotal role in disease diagnosis and control. Considering the sudden multicountry MPXV outbreak, a critical evaluation of the MPXV detection approaches would be a timely addition to the endeavors in progress for MPXV control and prevention. Herein, we evaluate the current MPXV detection methods, discuss their pros and cons, and provide recommended solutions to the problems. We review the traditional and emerging nucleic acid detection approaches, immunodiagnostics, whole-particle detection, and imaging-based MPXV detection techniques. The insights provided in this article will help researchers to develop novel techniques for the diagnosis of MPXV.

RCMNet: A deep learning model assists CAR-T therapy for leukemia.

Acute leukemia is a type of blood cancer with a high mortality rate. Current therapeutic methods include bone marrow transplantation, supportive therapy, and chemotherapy. Although a satisfactory remission of the disease can be achieved, the risk of recurrence is still high. Therefore, novel treatments are demanding. Chimeric antigen receptor-T (CAR-T) therapy has emerged as a promising approach to treating and curing acute leukemia. To harness the therapeutic potential of CAR-T cell therapy for blood diseases, reliable cell morphological identification is crucial. Nevertheless, the identification of CAR-T cells is a big challenge posed by their phenotypic similarity with other blood cells. To address this substantial clinical challenge, herein we first construct a CAR-T dataset with 500 original microscopy images after staining. Following that, we create a novel integrated model called RCMNet (ResNet18 with Convolutional Block Attention Module and Multi-Head Self-Attention) that combines the convolutional neural network (CNN) and Transformer. The model shows 99.63% top-1 accuracy on the public dataset. Compared with previous reports, our model obtains satisfactory results for image classification. Although testing on the CAR-T cell dataset, a decent performance is observed, which is attributed to the limited size of the dataset. Transfer learning is adapted for RCMNet and a maximum of 83.36% accuracy is achieved, which is higher than that of other state-of-the-art models. This study evaluates the effectiveness of RCMNet on a big public dataset and translates it to a clinical dataset for diagnostic applications.

Advanced Glycation End Products (AGEs) Inhibit Macrophage Efferocytosis of Apoptotic ß Cells through Binding to the Receptor for AGEs.

Pancreatic ß cell apoptosis is important in the pathogenesis of type 2 diabetes mellitus (T2DM). Generally, apoptotic ß cells are phagocytosed by macrophages in a process known as "efferocytosis." Efferocytosis is critical to the resolution of inflammation and is impaired in T2DM. Advanced glycation end products (AGEs), which are increased in T2DM, are known to suppress phagocytosis function in macrophages. In this study, we found that AGEs inhibited efferocytosis of apoptotic ß cells by primary peritoneal macrophages in C57BL/6J mice or mouse macrophage cell line Raw264.7. Mechanistically, AGEs inhibit efferocytosis by blocking Ras-related C3 botulinum toxin substrate 1 activity and cytoskeletal rearrangement through receptor for advanced glycation end products/ras homolog family member A/Rho kinase signaling in macrophages. Furthermore, it was observed that AGEs decreased the secretion of anti-inflammatory factors and promoted the proinflammatory ones to modulate the inflammation function of efferocytosis. Taken together, our results indicate that AGEs inhibit efferocytosis through binding to receptor for advanced glycation end products and activating ras homolog family member A/Rho kinase signaling, thereby inhibiting the anti-inflammatory function of efferocytosis.

Rational design of innate defense regulator peptides as tumor vaccine adjuvants.

The development of adjuvants has been an empirical process. Efforts to develop a new design and evaluation system for novel adjuvants are not only desirable but also necessary. Moreover, composite adjuvants that contain two or more types of adjuvants to synergistically enhance the immune response are important for adjuvant and vaccine design. Innate defense regulator peptides (IDRs) are promising adjuvants for clinical immunotherapy because they exhibit multifaceted immunomodulatory capabilities. However, the rational design and discovery of IDRs that have improved immunomodulatory activities have been hampered by the lack of screening techniques and the great challenges in the identification of their interaction partners. Here, we describe a screening and evaluation system for IDR design. On the basis of in vitro screening, the optimized IDR DP7 recruited neutrophils, monocytes and macrophages to the site of infection. The adjuvant, comprising the DP7 and CpG oligonucleotide (CpG), induced chemokine/cytokine expression, enhanced the antigen uptake by dendritic cells and upregulated surface marker expression in dendritic cells. Vaccination with the NY-ESO-1 or OVA antigens combined with the adjuvant alum/CpG/DP7 strongly suppressed tumor growth in mice which was due to the improvement of antigen-specific humoral and cellular immunity. Regarding the mechanism of action, GPR35 may be the potential interaction partner of DP7. Our study revealed the potential application of the screening and evaluation system as a strategy for rationally designing effective IDRs or composite adjuvants and identifying their mechanism of action.

Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree.

BACKGROUND: Isolated sulfite oxidase deficiency (ISOD) is a life-threatening rare autosomal recessive disorder caused by pathogenic variants in SUOX (OMIM 606887) gene. The aim of our study was to establish a comprehensive genetic diagnosis strategy for the pathogenicity analysis of the SUOX gene within a limited time and to lay the foundation for precise genetic counseling, prenatal diagnosis, and preimplantation genetic diagnosis. METHODS: Two offspring from one set of parents were studied. Next-generation sequencing (NGS) was used to screen for disease-causing gene variants in a family with ISOD. Then, Sanger sequencing was performed to verify the presence of candidate variants. Sulfite, homocysteine and uric acid levels were detected in the patients. According to the ACMG/AMP guidelines, the pathogenicity level of novel variants was annotated. RESULTS: The nonsense pathogenic variant (c.1200C > G (p.Y400*)) and a duplication (c.1549_1574dup (p.I525 Mfs*102)) were found in the SUOX gene in the proband. The nonsense mutation (c.1200C > G (p.Y400*), pathogenic, isolated sulfite oxidase deficiency, autosomal recessive) has been reported as pathogenic and the duplication (c.1549_1574dup (p.I525 Mfs*102), pathogenic, isolated sulfite oxidase deficiency, autosomal recessive) was novel, which was classified as pathogenic according to the ACMG/AMP Standards and Guidelines. CONCLUSION: We established the pathogenicity assessment in ISOD patients based on ACMG/AMP Standards and Guidelines and this is the first ISOD patient reported in mainland China. We also discovered that ISOD is caused by SUOX gene duplication mutation, which enriches the spectrum of SUOX pathogenic variants.

MondoA Is Required for Normal Myogenesis and Regulation of the Skeletal Muscle Glycogen Content in Mice.

Background: Skeletal muscle is the largest tissue in the human body, and it plays a major role in exerting force and maintaining metabolism homeostasis. The role of muscle transcription factors in the regulation of metabolism is not fully understood. MondoA is a glucose-sensing transcription factor that is highly expressed in skeletal muscle. Previous studies suggest that MondoA can influence systemic metabolism homeostasis. However, the function of MondoA in the skeletal muscle remains unclear. Methods: We generated muscle-specific MondoA knockout (MAKO) mice and analyzed the skeletal muscle morphology and glycogen content. Along with skeletal muscle from MAKO mice, C2C12 myocytes transfected with small interfering RNA against MondoA were also used to investigate the role and potential mechanism of MondoA in the development and glycogen metabolism of skeletal muscle. Results: MAKO caused muscle fiber atrophy, reduced the proportion of type II fibers compared to type I fibers, and increased the muscle glycogen level. MondoA knockdown inhibited myoblast proliferation, migration, and differentiation by inhibiting the phosphatase and tensin homolog (PTEN)/phosphoinositide 3-kinase (PI3K)/Akt pathway. Further mechanistic experiments revealed that the increased muscle glycogen in MAKO mice was caused by thioredoxin-interacting protein (TXNIP) downregulation, which led to upregulation of glucose transporter 4 (GLUT4), potentially increasing glucose uptake. Conclusion: MondoA appears to mediate mouse myofiber development, and MondoA decreases the muscle glycogen level. The findings indicate the potential function of MondoA in skeletal muscle, linking the glucose-related transcription factor to myogenesis and skeletal myofiber glycogen metabolism.