Objective To explore the effect of fine particulate matter (PM_2.5) in Taiyuan City on short-term pulmonary function in elderly patients with chronic obstructive pulmonary disease (COPD). Methods Among the 1 015 elderly COPD patients admitted to the respiratory departments of five general hospitals in Taiyuan City from December 2021 to December 2023 were retrospectively selected for research; medical records, air pollutant data and meteorological data were analyzed; the relationship between PM_2.5 and lung function indicators and air pollutants was analyzed; the impact of PM_2.5 on lung function and its lag effect were analyzed; the cumulative effect of PM_2.5 concentration on the risk of pulmonary ventilation dysfunction was analyzed; The influence of gender and age on the relationship between PM_2.5 and patients ' short-term pulmonary function was analyzed. Results PM_2.5, respirable particulate matter (PM₁₀), sulfur dioxide (SO₂), carbon monoxide (CO) were negatively correlated with average temperature and average humidity (P<0.05) ; Nitrogen dioxide (NO₂), ozone (O₃) were negatively correlated with average temperature (P<0.05) ; There was a positive correlation among PM_2.5, PM₁₀, SO₂, CO, NO₂, and O₃ (P<0.05) ; Elevated PM_2.5 is an independent risk factor for decreased lung function and increased air pollutants (P<0.05) ; At lag0 and lag1, PM_2.5 concentration was negatively correlated with lung function in a dose-response manner (P<0.05); daily average PM_2.5 concentration at lag0 was a dangerous effect (P<0.05). Conclusion The impact of PM_2.5 concentration on lung function has a certain time lag. An increase in PM_2.5 concentrations can lead to a decline in lung function.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Background: Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients. Methods: Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines. Results: Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher. Conclusion MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Sugarcane (Saccharum spp.) is an important sugar crop. Biotic and abiotic stresses such as diseases, cold, and drought are major factors limiting sugarcane production. β-1,3-glucanase (EC 3.2.1.39), a member of the pathogenesis-related protein family, plays an essential role not only in the plant defenses against pathogens but also in plant growth, development, and abiotic stress responses. To systematically investigate the sugarcane β-1,3-glucanase gene family, 132 glycoside hydrolase (GH) 17 family members were identified in the genomes of the sugarcane wild species Saccharum spontaneum 'Np-X', the tropical species S. officinarum 'LA-Purple', and the Saccharum spp. hybrid cultivar 'R570'. The results of the phylogenetic analysis categorized them into four subfamilies, of which subfamily Ⅳ had the largest proportion of members (102). The members of the sugarcane GH17 gene family contained five conserved motifs and 0-16 introns. The majority of the GH17 genes exhibited a genome-wide replication pattern, with 89.50% originating from S. spontaneum 'Np-X' and S. officinarum 'LA-Purple', while 58.10% of them in the Saccharum spp. hybrid cultivar 'R570' belonged to the discrete replication type. Four major classes of cis-acting elements were identified in the promoters, including the elements related to plant growth, development, and tissue-specific expression (14.21%), light-responsive elements (38.24%), biotic or abiotic stress-responsive elements (9.18%), and hormone-responsive elements (38.37%), which suggested that this gene family was involved in plant growth, development, hormone responses, and stress responses. Transcriptome and quantitative real-time PCR (RT-qPCR) analyses showed that the sugarcane GH17 genes exhibited tissue-specific expression and were differentially expressed under low temperature, drought, and hormone treatments, as well as during the interactions between different sugarcane genotypes and Sporisorium scitamineum, suggesting their potential roles in plant defenses. In addition, some SsGlu genes (SsGlu5, SsGlu20, SsGlu21, SsGlu25, SsGlu28, and SsGlu39) were expected to serve as candidate stress-related genes. This study lays a foundation for further revealing the molecular mechanisms of the stress resistance of sugarcane via β-1,3-glucanase genes.
Saccharum/physiology* ; Stress, Physiological/genetics* ; Glucan 1,3-beta-Glucosidase/metabolism* ; Multigene Family ; Phylogeny ; Gene Expression Regulation, Plant ; Plant Proteins/genetics*

The Wnt signaling pathway plays an important role in maintaining liver homeostasis and liver regeneration.In healthy livers,the Wnt signaling pathway is mostly inactive,but it is continuously overactivated during cell renewal or regeneration processes,as well as in certain pathological conditions,diseases,precancerous states,and cancers.Persistent liver cell injury often leads to chronic liver diseases such as liver fibrosis,liver cirrhosis,and liver cancer.This article summarizes the basic structural features of the Wnt signaling pathway and analyzes its important role in the pathological progression of various liver diseases,so as to provide new ideas for the prevention and treatment of liver diseases in clinical practice.

Objective: To examine the association between sleep and frailty using the bidirectional two-sample Mendelian randomization (MR) approach, so as to provide the basis for the prevention and intervention of frailty. Methods: The data on single nucleotide polymorphisms (SNP) related to sleep duration, insomnia and morning chronotype were collected from genome-wide association studies (GWAS) and meta-analysis of GWAS, involving 446 118, 1 331 010 and 697 828 participants, respectively. The frailty was evaluated using the frailty index, and the relevant SNP data were collected from a meta-analysis of GWAS involving 175 226 participants. A bidirectional MR analysis was performed using the inverse-variance weighted method. Sensitivity analyses employed the weighted median method, the maximum likelihood-based method, the MR-Egger regression, and the MR-PRESSO test. Results: Forward MR analysis showed that longer sleep duration (β=-0.170, 95%CI: -0.255 to -0.085) and morning chronotype (β=-0.036, 95%CI: -0.058 to -0.014) decreased the risk of frailty, while insomnia increased the risk of frailty (β=0.167, 95%CI: 0.149-0.184). Reverse MR analysis showed that frailty increased the risk of insomnia (OR=1.645, 95%CI: 1.278-2.117). Both bidirectional MR results were robust, which excluded the impact of heterogeneity and horizontal pleiotropy. Conclusion Sleep duration, insomnia, and morning chronotype are associated with frailty.

Objective:To investigate the effects of subcutaneous immunotherapy (SCIT) on patients′ immune markers and metabolic levels in the early stage of allergen treatment, and to gain insight into the role of SCIT in regulating immune responses and metabolic levels, so as to provide reference data for the further discovery of potential biomarkers.Methods:A longitudinal study was used to include 40 subjects who underwent SCIT with dust mite allergens in the Department of Pediatrics of the First Affiliated Hospital of Guangzhou Medical University between November 2017 and February 2022, including 20 subjects each of single mite subcutaneous immunotherapy (SM-SCIT) and double mite subcutaneous immunotherapy (DM-SCIT). In this study, levels of dust mite allergen-specific antibodies and polyunsaturated fatty acid metabolism were measured before and 12 months after treatment, while pulmonary function tests were performed. The therapeutic effects of the patients were followed up by visual analogue scale (VAS), asthma control test (ACT) and total medication scores (TMS). The results were statistically analyzed using t-test and Mann-Whitney U-test. Results:After 12 months of treatment with SCIT, both groups showed a significant decrease in total VAS score (SM-SCIT: Z=-2.298, P<0.05; DM-SCIT: Z=-3.411, P<0.001); total ACT score (SM-SCIT: Z=-2.054, P<0.05; DM-SCIT: Z=-2.014, P<0.05) and total medication scores (SM-SCIT: Z=-3.799, P<0.000 1; DM-SCIT: Z=-3.474, P<0.001) were significantly higher, in addition to significantly higher MMEF75/25 values in the DM-SCIT group ( t=-2.253, P<0.05). There was no significant change in sIgE in the SM-SCIT group ( P>0.05), and the sIgG4 levels of the Der p, Der f, p 1, p 2, f 2, and p 21 fractions were significantly elevated ( Z=-2.651, -3.771, -2.949, -2.912, -2.725, -2.128, and -3.285, respectively, all P<0.05); The sIgE of Der p 2, f 2, p 7 and p 23 fractions( Z=-2.651, -3.771, -2.949, -2.912, -2.725, -2.128, -3.285, all P<0.05) and the sIgG4 levels of the Der p, Der f, p 1, p 2, f 1, f 2, p 10, p 21 and p 23 fractions ( Z=-3.808, -3.845, -3.061, -2.688, -2.464, -3.211, -2.371, -2.091, -2.427, all P<0.05) of the DM-SCIT group were significantly elevated. Metabolomics analysis showed that arachidonic acid, docosahexaenoic acid, docosapentaenoic acid, eicosapentaenoic acid, 5, 9, 12-octadecatrienoic acid, 5(S)-hydroxylated eicosatetraenoic acid, and dihomo-gamma-linolenic acid were significantly elevated at the beginning of the treatment period after SM-SCIT treatment ( Z of -2.191, -2.497, -1.988, -2.090, -2.19, -2.803, -2.073, all P<0.05); 5(S)-hydroxylated eicosatetraenoic acid showed elevated and alpha-linolenic acid, eicosadienoic acid, and eicosapentaenoic acid were significantly decreased in the DM-SCIT group after treatment ( Z=-1.988, -2.090, -2.497, -1.988, respectively, all P<0.05). Correlation analysis showed that arachidonic acid was significantly negatively correlated with changes in dust mite-specific IgG4 ( r=-0.499, P<0.05), and that alpha-linolenic acid, 5, 9, 12-octadecatrienoic acid, and eicosapentaenoic acid were positively correlated with the ΔsIgG4 of the dust mite der p 2 ( r=0.451, 0.420, 0.474, respectively; all P<0.05). Conclusion:Significant changes in allergen-specific antibody levels and polyunsaturated fatty acid metabolism levels occur during SCIT, and the two may interact and influence each other.

Purpose To explore the differences of the accuracy of detection and recognition of thyroid nodules and the diagnostic efficacy of benign and malignant thyroid nodules via artificial intelligence(AI)ultrasound assisted systems based on different ultrasound parameters.Materials and Methods A total of 147 patients with 289 nodules who underwent thyroid surgery in the First Medical Center of Chinese PLA General Hospital from March 30,2023 to May 1,2023 were prospectively selected.Different ultrasound parameters were adjusted and the AI system was used to detect and diagnose benign and malignant thyroid nodules via each parameter.Taken pathological results as the gold standard,the accuracy of thyroid nodule detection and the accuracy of benign and malignant diagnosis under different ultrasound parameters were compared,respectively.Results Under the standard ultrasound parameters,the accuracy of AI system in detecting thyroid nodules was 94.1%,the sensitivity for benign and malignant diagnosis was 90.9%,the specificity was 79.6%,and the accuracy was 86.6%,respectively.In terms of detection accuracy,accuracy under low gain(χ2=4.453,P=0.035)and high gain(χ2=6.215,P=0.013)parameters of AI system were significantly lower than those of standard ultrasound parameters.In terms of diagnostic efficacy,specificity(χ2=4.620,P=0.032),accuracy(χ2=7.521,P=0.006),area under the curve(Z=3.102,P=0.001),high gain sensitivity(χ2=6.170,P=0.013),accuracy(χ2=4.127,P=0.042),area under the curve(Z=2.152,P=0.031)and high depth accuracy(χ2=5.011,P=0.025),area under the curve(Z=2.420,P=0.015)of low gain were all significantly reduced compared to standard ultrasound parameters,with statistical differences.Conclusion When using the AI system to assist in the examination of thyroid nodules,attention should be paid to the adjustment of ultrasound instrument parameters.Improper parameter adjustment may reduce the AI system's ability to detect thyroid nodules and the accuracy of benign and malignant diagnosis.