DRED: A Comprehensive Database of Genes Related to Repeat Expansion Diseases.

Expansion of tandem repeats in genes often causes severe neuromuscular diseases, such as fragile X syndrome, Huntington's disease, and spinocerebellar ataxia. However, information on genes associated with repeat expansion diseases is scattered throughout the literature, systematic prediction of potential genes that may cause diseases via repeat expansion is also lacking. Here, we develop DRED, a Database of genes related to Repeat Expansion Diseases, as a manually-curated database that covers all known 61 genes related to repeat expansion diseases reported in PubMed and OMIM, along with detailed repeat information for each gene. DRED also includes 516 genes with the potential to cause diseases via repeat expansion, which were predicted based on their repeat composition, genetic variations, genomic features, and disease associations. Various types of information on repeat expansion diseases and their corresponding genes/repeats are presented in DRED, together with links to external resources, such as NCBI and ClinVar. DRED provides user-friendly interfaces with comprehensive functions, and can serve as a central data resource for basic research and repeat expansion disease-related medical diagnosis. DRED is freely accessible at http://omicslab.genetics.ac.cn/dred, and is frequently updated to include newly reported genes related to repeat expansion diseases.

Intercalating Architecture for the Design of Charge Density Wave in Metallic MA2Z4 Materials.

We present a novel approach to induce charge density waves (CDWs) in metallic MA2Z4 materials, resembling the behavior observed in transition metal dichalcogenides (TMDCs). This method leverages the intercalating architecture to maintain the same crystal field and Fermi surface topologies. Our investigation reveals that CDW instability in these materials arises from electron-phonon coupling (EPC) between the d band and longitudinal acoustic (LA) phonons, mirroring TMDC's behavior. By combining α-MA2Z4 with 1H-MX2 materials in a predictive CDW phase diagram using critical EPC constants, we demonstrate the feasibility of extending CDW across material families with comparable crystal fields and reveal the crucial role in CDW instability of the competition between ionic charge transfer and electron correlation. We further uncover a strain-induced Mott transition in ß2-NbGe2N4 monolayer featuring star-of-David patterns. This work highlights the potential of intercalating architecture to engineer CDW materials, expanding our understanding of CDW instability and correlation physics.

Comparative Immunogenicity of a High-Dose Hepatitis B Virus (HBV) Vaccine with Rapid Immunization vs. Standard Schedule in HBV Vaccine-Naïve Adults Aged 25-55 in China.

The 20 µg (0-1-6 month) hepatitis B virus (HBV) vaccination is widely recommended for HBV vaccine-naïve immune adults in China. However, suboptimal protective responses may occur due to dose-series incompletion. We aim to investigate the immunogenicity of a 60 µg HB vaccine with a 0-2 month series among HBV vaccine-naïve immune adults aged 25-55 to assess potential alternative approaches for HB immunization. A two-center randomized controlled trial was carried out. Participants were randomly allocated to either the 20 µg (0-1-6 month) or the 60 µg (0-2 month) regimen. Blood samples were collected eight weeks after the final injection to measure the antibodies. A total of 583 adults (289 in the 20 µg regimen and 294 in the 60 µg regimen) were included. The seroprotection rates (SPRs) were 97.23% and 93.54% in the 20 µg and 60 µg regimens, respectively (p = 0.0261), and the geometric mean concentrations were 600.76 mIU/mL and 265.68 mIU/mL, respectively (p < 0.0001). The immunogenicity of the 60 µg regimen decreased significantly with age, particularly in adults aged 40 and older. The 60 µg regimen may be beneficial for adults under 40, especially those with poor compliance or in urgent need of immunization.

Prenatal exposure to bisphenol AF causes toxicities in liver, spleen, and kidney tissues of SD rats.

As a replacement for bisphenol A (BPA), bisphenol AF (BPAF) showed stronger maternal transfer and higher fetal accumulation than BPA. Therefore, concerns should be raised about the health risks of maternal exposure to BPAF during gestation on the offspring. In this study, SD rats were exposed to BPAF (0, 50, and 100 mg/kg/day) during gestation to investigate the bioaccumulation and adverse effects in liver, spleen, and kidney tissues of the offspring at weaning period. Bioaccumulation of BPAF in these tissues with concentrations ranging from 1.56 ng/mg (in spleen of males) to 55.44 ng/mg (in liver of females) led to adverse effects at different biological levels, including increased relative weights of spleen and kidneys, histopathological damage in liver, spleen, and kidney, organ functional damage in liver, spleen, and kidney, upregulated expression of genes related to lipid metabolism (in liver), oxidative stress response (in kidney), immunity and inflammatory (in spleen). Furthermore, dysregulated metabolomics was identified in spleen, with 217 differential metabolites screened and 9 KEGG pathways significantly enriched. This study provides a comprehensive insight into the systemic toxicities of prenatal exposure to BPAF in SD rats. Given the broad applications and widespread occurrence of BPAF, its safety should be re-considered.

Computational Strategies and Algorithms for Inferring Cellular Composition of Spatial Transcriptomics Data.

Spatial transcriptomics technology has been an essential and powerful method for delineating tissue architecture at the molecular level. However, due to the limitations of the current spatial techniques, the cellular information cannot be directly measured but instead spatial spots typically varying from a diameter of 0.2 to 100 µm are characterized. Therefore, it is vital to apply computational strategies for inferring the cellular composition within each spatial spot. The main objective of this review is to summarize the most recent progresses in estimating the exact cellular proportions for each spatial spot, and to prospect the future directions of this field.

Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models.

Research advances over the past 30 years have confirmed a critical role for genetics in the etiology of dilated cardiomyopathies (DCMs). However, full knowledge of the genetic architecture of DCM remains incomplete. We identified candidate DCM causal gene, C10orf71, in a large family with 8 patients with DCM by whole-exome sequencing. Four loss-of-function variants of C10orf71 were subsequently identified in an additional group of492 patients with sporadic DCM from 2 independent cohorts. C10orf71 was found to be an intrinsically disordered protein specifically expressed in cardiomyocytes. C10orf71-KO mice had abnormal heart morphogenesis during embryonic development and cardiac dysfunction as adults with altered expression and splicing of contractile cardiac genes. C10orf71-null cardiomyocytes exhibited impaired contractile function with unaffected sarcomere structure. Cardiomyocytes and heart organoids derived from human induced pluripotent stem cells with C10orf71 frameshift variants also had contractile defects with normal electrophysiological activity. A rescue study using a cardiac myosin activator, omecamtiv mecarbil, restored contractile function in C10orf71-KO mice. These data support C10orf71 as a causal gene for DCM by contributing to the contractile function of cardiomyocytes. Mutation-specific pathophysiology may suggest therapeutic targets and more individualized therapy.

Spatiotemporal dynamic relationships and simulation of urban spatial form changes and land surface temperature: a case study in Chengdu, China.

Exploring the spatiotemporal dynamic evolution of local climate zones (LCZ) associated with changes in land surface temperature (LST) can help urban planners deeply understand urban climate. Firstly, we monitored the evolution of 3D urban spatial form in Chengdu City, Sichuan Province, China from 2010 to 2020, used the ordinary least squares model to fit the dynamic correlation (DR) between the changes in urban spatial patterns and changes in LST, and revealed the changes of urban spatial patterns closely related to the rise in LST. Secondly, the spatiotemporal patterns of LST were examined by the integration of the Space-Time Cube model and emerging hotspot analysis. Finally, a prediction model based on curve fitting and random forest was integrated to simulate the LST of study area in 2025. Results show the following: the evolution of the urban spatial form consists of three stages: initial incremental expansion, midterm incremental expansion and stock renewal, and late stock renewal and ecological transformation. The influence of the built environment on the rise of LST is greater than that of the natural environment, and the building density has a greater effect than the building height. The overall LST shows a warming trend, and the seven identified LST spatiotemporal patterns are dominated by oscillating and new hotspots patterns, accounting for 51.99 and 11.44% of the study area, respectively. The DR between urban spatial form and LST varies across different time periods and built environment types, whereas the natural environment is always positively correlated with LST. The thermal environment of the city will warm up in the future, and the area affected by the heat island will shift to the central of the city.

Risk factors of falls in rural elderly of Ningxia in China: a prospective cohort study.

OBJECTIVES: To identify risk factors associated with falls in older people in rural China. METHODS: A prospective cohort study was conducted across 27 villages in the rural areas of Ningxia, China. After excluding individuals younger than 60 years, a total of 758 out of the initial 822 participants were ultimately included for the collection of baseline information. Participants were followed up through telephone calls or face-to-face interviews at 3rd, 6th and 12th months following the baseline investigation. The Cox proportional hazards regression model was used to examine risk factors of falls. RESULTS: A total of 758 participants underwent baseline information surveys, and all samples were included in the Cox model analysis. The study found that being woman (RR=1.879, 95% CI: 1.313 to 2.668), smoking (RR=1.972, 95% CI: 1.238 to 3.143), use of painkillers (RR=1.700, 95% CI: 1.226 to 2.356) and higher systolic blood pressure (SBP) (RR=1.081, 95% CI: 1.013 to 1.154) were associated with higher risk of falls among the elderly in rural China. After excluding those who were lost to follow-up or deceased, 738 participants completed the follow-up. There were 341 men (46.2%) and 397 women (53.8%), with an average age of 66.8±5.0 years. The fall rate in study area was 23.8% during the follow-up period. CONCLUSIONS: The fall rate among the elderly in rural China was higher than other areas. Our findings revealed that being woman, smoking, medication usage, elevated SBP and people with a higher body mass index were risk factors for developing falls.

Sensitive and specific detection of Listeria monocytogenes in food samples using imprinted upconversion fluorescence probe prepared by emulsion polymerization method.

Listeria monocytogenes (L. monocytogenes) is a foodborne pathogen with high morbidity and mortality rates, necessitating rapid detection methods. Current techniques, while reliable, are labor-intensive and not amenable to on-site testing. We report the design and synthesis of a novel imprinted upconversion fluorescence probe through Pickering emulsion polymerization for the specific detection of L. monocytogenes. The probe employs trimethylolpropane trimethacrylate and divinylbenzene as cross-linkers, acryloyl-modified chitosan as a functional monomer, and the bacterium itself as the template. The developed probe demonstrated high specificity and sensitivity in detecting L. monocytogenes, with a limit of detection of 72 CFU/mL. It effectively identified the pathogen in contaminated salmon and chicken samples, with minimal background interference. The integration of molecular imprinting and upconversion fluorescence materials presents a potent and reliable approach for the rapid and specific detection of L. monocytogenes, offering considerable potential for on-site food safety testing.

Activation of H2O2-HCO3- by Ca2Co2O5 for pollutant degradation.

The bicarbonate-activated hydrogen peroxide (BAP) system is widely studied for organic pollutant degradation in wastewater treatment. Ca2Co2O5, a heterogeneous catalyst containing multivalent cobalt including Co(II) and Co(III), was herein investigated as a BAP activator, and Acid Orange 7 (AO7) was used as a model pollutant. Ca2Co2O5 exhibited good activation performance. The degradation rate and the initial rate constant of the Ca2Co2O5-activated BAP system were 5.4 and 11.2 times as high as the BAP system, respectively. The removal rate of AO7 reached 90.9% in 30 min under optimal conditions (AO7 20 mg/L, Ca2Co2O5 0.2 g/L, H2O2 1 mM, NaHCO3 5 mM, pH 8.5, 25℃). The Ca2Co2O5 catalyst exhibited good stability and recyclability, retaining 85% of AO7 removal rate in the fifth run. Compared to the BAP system, a lower dosage of H2O2 was required and a higher initial concentration of pollutants allowed for effective degradation in the Ca2Co2O5-BAP system. X-ray photoelectron spectroscopy was used to analyze the catalytic mechanism. The analysis showed that the good catalytic performance of Ca2Co2O5 attributes to its high proportion of oxygen vacancies and Co(III) species, and the presence of Ca. The active species O2•-, •OH, and 1O2 are responsible for the degradation, as indicated by the quenching experiments. The degradation mechanism of AO7 was speculated based on UV-Vis spectral analysis and the identification of degradation intermediates. The azo form, naphthalene and benzoic rings in the AO7 structure are destroyed in the decomposition. This research provides a feasible approach to designing effective and reusable BAP activators for pollutant degradation in wastewater treatment.

Short leukocyte telomere length and high plasma phospholipid fatty acids increase the risk of type 2 diabetes.

In the last 40 years, there has been a notable rise in the occurrence of diabetes within China, leading to the country now having the highest number of individuals affected by this condition globally. This prospective observational study examined the effect of different baseline relative leukocyte telomere length (RTL) and the combined effect of baseline RTL and plasma phospholipid fatty acid (PPFA) on the risk of developing diabetes. Adults from Ningxia Province who underwent baseline and follow-up surveys were included in the study. The correlation between the baseline RTL and PPFA was investigated using a multiple linear regression model. The combined effects of baseline RTL and PPFA levels on the risk of developing type 2 diabetes mellitus (T2DM) were investigated using a Cox regression model with time as the covariate. A total of 1461 study subjects were included in this study. According to the diagnostic criteria of the Chinese Diabetes Society, 141 subjects developed T2DM during the follow-up period. The baseline age was negatively correlated with RTL. After adjustment for age, C16:0, C18:1 n-9, C20:4 n-6, C20:3 n-3, and monounsaturated fatty acid (MUFA) concentrations were negatively correlated with RTL. Multiple linear regression analysis showed that C16:0 and MUFA concentrations influenced RTL. Subjects with shorter RTL at baseline had a higher risk of developing diabetes than those with longer RTL. Subjects with shorter RTL and higher C16:0 and MUFA concentrations at baseline had a higher risk of developing T2DM than those with longer RTL and lower C16:0 and MUFA concentrations. Our findings indicated that PPFA affects changes in RTL. In addition, RTL and PPFA are associated with the occurrence of T2DM.

Ratiometric fluorescent test strips based on CB-Ni2+@CDs probes for visual detection of histamine.

Histamine is a biogenic amine with various physiological functions. However, excessive consumption of histamine can lead to various symptoms, and pose a threat to human lives. A ratiometric fluorescent test strip for visual detection of histamine was developed based on CB-Ni2+@CDs probes. As the concentration of histamine increases, the test strips exhibit a transition in fluorescence signal from yellow-green to blue. The RGB values were extracted from the images, and used for quantitative analysis of histamine. The method had a linear range of 0-1.0 mM, with a detection limit of 0.086 mM. The test strips were employed for the detection of histamine, and the recovery rate was found to be in the range of 88.3% to 104.69%, indicating a high level of accuracy. The uniqueness of the test strips lies in their ability to be produced simply by mixing CB, Ni2+ on a suitable polyvinyl alcohol/wood cellulose fiber substrate.

A reliable fluorescence "turn-on" aptasensor based on dual-emitting europium metal-organic frameworks for ultrasensitive and selective detection of sulfamethazine.

A high-performance fluorescent "turn-on" aptasensor (Eu-MOFs@SMZ-Apt) for sulfamethazine (SMZ) determination was designed using dual-emitting europium metal-organic frameworks (Eu-MOFs) as a signal transducer and an amplifier. Eu-MOFs featuring dual emission peaks (430 nm and 620 nm) were first prepared via a facile self-assembly strategy employing Eu (III) ions and 2-aminoterephthalic acid as precursors. The high-affinity aptamer was bonded with Eu-MOFs to form Eu-MOFs@SMZ-Apt through the amidation reaction. Benefiting from the integration of inherent virtues from Eu-MOFs and aptamer, the Eu-MOFs@SMZ-Apt-based sensor allowed sensitive and selective determination of SMZ with good linear relationships in a range of 1.4-40 ng mL-1 and a low detection line (0.379 ng mL-1). This sensor was successfully applied to the determination of trace SMZ in real samples with satisfactory recoveries (86.47-113.52%) and a relative standard deviation (<6.51). Consequently, the Eu-MOFs@SMZ-Apt ratiometric fluorescence sensor furnishes new possibilities for the accurate detection of various pollutants in food.

Stability and 3D-printing performance of high-internal-phase emulsions based on ultrafine soybean meal particles.

There are numerous studies on the application of soybean whey protein in three-dimensional (3D) printing. In this study, the effects of soybean meal particles (5%, 6%, 7%, 8%, 9%, and 10%) and oil-phase concentrations (70%, 72%, 74%, 76%, and 78%) on the stability and 3D-printing performance of a soybean-meal-based high-internal-phase emulsion were investigated. The results showed that the particle size of the emulsion decreased with increasing soybean meal particle concentration, and that increasing the concentration of the oil phase improved the viscoelasticity of the emulsion. Rheological tests further showed that the higher storage modulus of the emulsion indicated better support and stability. The emulsion with 8% soybean meal-particles and 76% oil-phase concentration exhibited the best printing effect. This study provides an effective solution for the preparation of stabilized high-internal-phase emulsions of soybean meal particles suitable for 3D printing.

Heavy Metal Removal from Wastewater Using Poly(Gamma-Glutamic Acid)-Based Hydrogel.

The removal of toxic heavy metal ions from wastewater is of great significance in the protection of the environment and human health. Poly(gamma-glutamic acid) (PGA) is a non-toxic, biodegradable, and highly water-soluble polymer possessing carboxyl and imino functional groups. Herein, water-insoluble PGA-based hydrogels were prepared, characterized, and investigated as heavy metal adsorbents. The prepared hydrogels were recyclable and exhibited good adsorption effects on heavy metal ions including Cu2+, Cr6+, and Zn2+. The effects of adsorption parameters including temperature, solution pH, initial concentration of metal ions, and contact time on the adsorption capacity of the hydrogel for Cu2+ were investigated. The adsorption was a spontaneous and exothermic process. The process followed the pseudo-first-order kinetic model and Langmuir isotherm model, implying a physical and monolayer adsorption. The adsorption mechanisms investigation exhibited that Cu2+ adsorbed on the hydrogel via electrostatic interactions with anionic carboxylate groups of PGA in addition to the coordination interactions with the -NH groups. Importantly, the PGA hydrogel exhibited good reusability and the adsorption capability for Cu2+ remained high after five consecutive cycles. The properties of PGA hydrogel make it a potential candidate material for heavy metal ion removal in wastewater treatment.

Quality changes in Chinese high-quality indica rice under different storage temperatures with varying initial moisture contents.

The planting area of high-quality indica rice varieties has been growing rapidly in China. However, the storage characteristics of these varieties remains unclear. In this research, different moisture contents (13.5, 14.5, and 15.5%) of high-quality rice (variety Xiadao No.1) were stored at different temperatures (15, 20, 25, and 30°C) for 360 d, and then evaluated for lipid metabolism, redox enzyme activities, fatty acid composition, and sensory attributes. With the prolongation of storage, rice displayed an upward trend in fatty acid value, malondialdehyde content, and cooked rice hardness and a downward trend in contents of total fat and non-starch lipid, peroxidase and catalase activities, and sensory score of cooked rice. The change trends of these quality parameters were aggravated by elevating storage temperature and moisture content. Linoleic acid content of rice generally decreased with prolonged storage. After 300 d of storage, rice with initial moisture content of 13.5% at 30°C showed a fatty acid value of higher than 30 mg KOH/100 g, while rice of other two initial moisture contents reached similar level at 25°C. After the whole storage period, only rice with initial moisture contents of 13.5 and 14.5% stored at 15°C had a sensory score of higher than 60. These results suggested that the aging process of high-quality rice can be inhibited by decreasing the storage temperature and initial moisture content. These results can provide reference for grain storage enterprises to select proper storage condition to store high-quality rice.

Amine vapor-responsive ratiometric sensing tag based on HPTS/TPB-PVA fluorescent film for visual determination of fish freshness.

In this study, amine vapor-sensitive films with ratiometric fluorescence attributes were developed. The pH-sensitive fluorescein 8-hydroxypyrene-1,3,6-trisulfonic acid trisodium salt (HPTS) and its tetraphenylethylene derivative (TPB) were selected as ratiometric indicators and incorporated into a polyvinyl alcohol (PVA) matrix to produce HPTS/TPB-PVA films. The films responded well to amine vapors, and the interference of aromatic vapors did not substantially affect the fluorescence signals of the films. Under UV light at a wavelength of 365 nm, the fluorescence of the films changed from dark pink to light pink and finally to yellow when the freshness of the fish was visually checked during storage. In addition, the color difference values of the films showed a positive correlation with the total volatile basic nitrogen (TVB-N), ranging from 12.7 to 24.8 mg/100 g at 25 °C and 8.4 to 25.6 mg/100 g at 4 °C, respectively. This indicates that fluorescent films have good potential for quantifying fish freshness in the near future when connected to an automatic data processing system based on color differences.

Modified Magnetic Resonance Imaging Burden of Cerebral Small Vessel Disease and Related Risk Factors in Patients With Thalassemia.

OBJECTIVE: This study aimed to explore the burden of magnetic resonance imaging (MRI) of cerebral small vessel disease (CSVD) in patients with thalassemia and related risk factors. METHODS: The clinical data and MRI of patients with thalassemia were retrospectively analyzed, and non-thalassemia controls with matched sex and age were selected. The modified MRI burden of CSVD included recent small subcortical infarct, presumed vasogenic white matter hyperintensity, presumed vasogenic lacunae, perivascular space (PVS), and brain atrophy. RESULTS: This study included 110 patients in each of the thalassemia and control groups. There was no significant difference in sex, age, and common cerebrovascular disease risk factors between the 2 groups. The patients with thalassemia had a higher red blood cell count and lower content of hemoglobin. The PVS and modified MRI burden scores in the thalassemia group were higher than in the control group. With the increase in age, patients with thalassemia have a more severe CSVD burden. CONCLUSION: Patients with thalassemia have a heavier modified MRI burden of CSVD than non-thalassemia patients, particularly PVS, and aging is an important risk factor for CSVD changes.

Lateral Flow Immunoassay Based on Quantum-Dot Nanobeads for Detection of Chloramphenicol in Aquatic Products.

Quantum dot nanobeads (QBs) were used as signal source to develop competitive lateral flow immunoassay (LFIA) for the detection of chloramphenicol (CAP). The quantitative detection of CAP was achieved by calculating the total color difference (∆E) values of the test line (T line) using the images of test strips. QB-based LFIA (QBs-LFIA) allowed the effective dynamic linear detection of CAP in the range of 0.1-1.5 ng/mL. The limit of detection (LOD) was 3.0 ng/mL, which was 50 and 667 times lower than those achieved for two different brands of colloidal gold kits. The recoveries of CAP during real-sample detection were 82.82-104.91% at spiked levels of 0.1, 0.7, and 1.5 ng/mL. These results indicate that the developed QBs-LFIA facilitates the sensitive detection of CAP.

Increased TG Levels and HOMA-IR Score Are Associated With a High Risk of Prediabetes: A Prospective Study.

This study aimed to determine the association of blood lipid and insulin levels with the development of prediabetes. In this prospective cohort study, we collected and analyzed data related to demographic characteristics, lipid profiles, and insulin parameters at baseline (2008-2012) and at follow-up (2019-2020). A total of 1205 participants were included. The study found that maintained or elevated Homeostatic Model Assessment for Insulin Resistance (HOMO-IR) score and elevated triglyceride (TG) levels from baseline to follow-up were associated with an increased risk of prediabetes. However, the interaction between blood lipids and insulin had no significant effect on the risk of prediabetes. Our findings indicate that elevated TG or HOMA-IR levels are associated with an increased risk of prediabetes. These findings emphasize the need to formulate initiatives that can help reduce dyslipidemia to prevent the onset of prediabetes and diabetes.