To explore the correlation between MTHFR C677T gene polymorphism and hypertension, hyperhomocysteinemia(Hcy), and hyperlipidemia in the Tibetan population of Tibet.

Objective:To assess common errors in head and neck CT angiography (CTA) image reports using four types of large language models (LLM), namely GPT-4, DeepSeek, ERNIE Bot and SparkDesk, and to assess the feasibility of using existing LLMs to support quality control of radiology reports in Chinese.Methods:The study was a cross-sectional study. Totally 1 000 head and neck CTA image reports were randomly selected using the simple random sampling method from Xuanwu Hospital, Capital Medical University in 2023, including 500 primary reports and 500 finalized reports. Two radiologists collaboratively identified six types of errors in the reports: description errors, writing errors, left-right confusion errors, diagnostic omissions, logical sequence errors, and other errors. The overall quality of the reports was assessed using a 5-point Likert scale. Subsequently, GPT-4, DeepSeek, ERNIE Bot and SparkDesk models were employed to detect the same six types of errors in the imaging reports and to provide overall scoring. The results from manual review were considered the gold standard for calculating F1 score to evaluate model performance. Intra-class correlation coefficients ( ICC) were used to assess the consistency between manual scores and the overall scores from the four LLMs. Results:In the primary imaging reports, the proportions of manually detected errors were as follows: descriptive errors 2.6% (13/500), writing errors 0.6% (3/500), left-right confusion errors 0, diagnostic omissions 6.4% (32/500), logical sequence errors 5.2% (26/500), and other errors 0. In the finalized imaging reports, the proportions of errors across the six categories were 0.2% (1/500), 0, 0, 0, 0, and 0.2% (1/500), respectively. For error detection in the primary imaging reports, the F1 scores of GPT-4 for the six error types were 0.992, 0.997, 0.997, 0.967, 0.980, and 0.992, respectively. DeepSeek achieved F1 scores of 0.980, 0.955, 0.981, 0.920, 0.995, and 0.960; ERNIE Bot scored 0.982, 0.990, 1.000, 0.956, 0.976, and 0.999; and SparkDesk achieved 0.985, 0.995, 1.000, 0.961, 0.982, and 1.000. In the detection of errors in finalized imaging reports, GPT-4′s F1 scores were 0.994, 0.995, 0.998, 0.973, 0.989, and 0.993; DeepSeek scored 0.968, 0.965, 0.985, 0.971, 0.991, and 0.983; ERNIE Bot achieved 0.996, 0.992, 1.000, 0.983, 0.999, and 0.997; and SparkDesk achieved 0.999, 0.999, 1.000, 1.000, 1.000, and 0.999. The consistency between GPT-4, DeepSeek, and SparkDesk models and human ratings was moderate, with ICC values of 0.514, 0.560, and 0.515 respectively (all P0.001); in contrast, the overall score of ERNIE Bot showed poor consistency with human ratings, with an ICC of 0.221 ( P0.001). Conclusion:LLMs demonstrate high accuracy in detecting errors in head and neck CTA imaging reports. The overall scoring of report quality shows moderate consistency with manual assessments, indicating a certain feasibility for automated quality control in reporting.

OBJECTIVE: To analyze the clinical and genetic features of a child with Primary ciliary dyskinesia (PCD) due to compound heterozygous variants of the CCDC39 gene and a 22q11.21 deletion, and to explore the potential role of the two types of variants in the formation of complex phenotypes. METHODS: A child presented at the Shanxi Children's Hospital in March 2025 due to multiple congenital anomalies was selected as the study subject. Peripheral blood samples were taken from the child and her parents and subjected to whole-exome sequencing (WES). Candidate variants were verified by Sanger sequencing. Effect of splicing variant was predicted using SpliceAI, and pathogenicity was assessed based on the ACMG guidelines. Copy number variation (CNV) analysis was also performed. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No.: IRB-WZ-2025-019). RESULTS: The patient has exhibited multiple features including severe pneumonia, bronchiectasis, localized pulmonary emphysema, scoliosis, tetralogy of Fallot, and atrial septal defect. Genetic testing revealed that she has harbored compound heterozygous variants of the CCDC39 gene, namely c.1167+1G>A and c.1009A>T, which were inherited from her father and mother, respectively, with the latter being a novel likely pathogenic variant. In addition, a heterozygous deletion of approximately 708 kb at 22q11.21 was detected. CONCLUSION The coexistence of CCDC39 gene variants and a 22q11.21 deletion may underlay the development of complex clinical phenotypes in this child.
Humans ; Female ; Chromosomes, Human, Pair 22/genetics* ; Chromosome Deletion ; DNA Copy Number Variations/genetics* ; Child ; Ciliary Motility Disorders/genetics* ; Exome Sequencing

Objective:To assess common errors in head and neck CT angiography (CTA) image reports using four types of large language models (LLM), namely GPT-4, DeepSeek, ERNIE Bot and SparkDesk, and to assess the feasibility of using existing LLMs to support quality control of radiology reports in Chinese.Methods:The study was a cross-sectional study. Totally 1 000 head and neck CTA image reports were randomly selected using the simple random sampling method from Xuanwu Hospital, Capital Medical University in 2023, including 500 primary reports and 500 finalized reports. Two radiologists collaboratively identified six types of errors in the reports: description errors, writing errors, left-right confusion errors, diagnostic omissions, logical sequence errors, and other errors. The overall quality of the reports was assessed using a 5-point Likert scale. Subsequently, GPT-4, DeepSeek, ERNIE Bot and SparkDesk models were employed to detect the same six types of errors in the imaging reports and to provide overall scoring. The results from manual review were considered the gold standard for calculating F1 score to evaluate model performance. Intra-class correlation coefficients ( ICC) were used to assess the consistency between manual scores and the overall scores from the four LLMs. Results:In the primary imaging reports, the proportions of manually detected errors were as follows: descriptive errors 2.6% (13/500), writing errors 0.6% (3/500), left-right confusion errors 0, diagnostic omissions 6.4% (32/500), logical sequence errors 5.2% (26/500), and other errors 0. In the finalized imaging reports, the proportions of errors across the six categories were 0.2% (1/500), 0, 0, 0, 0, and 0.2% (1/500), respectively. For error detection in the primary imaging reports, the F1 scores of GPT-4 for the six error types were 0.992, 0.997, 0.997, 0.967, 0.980, and 0.992, respectively. DeepSeek achieved F1 scores of 0.980, 0.955, 0.981, 0.920, 0.995, and 0.960; ERNIE Bot scored 0.982, 0.990, 1.000, 0.956, 0.976, and 0.999; and SparkDesk achieved 0.985, 0.995, 1.000, 0.961, 0.982, and 1.000. In the detection of errors in finalized imaging reports, GPT-4′s F1 scores were 0.994, 0.995, 0.998, 0.973, 0.989, and 0.993; DeepSeek scored 0.968, 0.965, 0.985, 0.971, 0.991, and 0.983; ERNIE Bot achieved 0.996, 0.992, 1.000, 0.983, 0.999, and 0.997; and SparkDesk achieved 0.999, 0.999, 1.000, 1.000, 1.000, and 0.999. The consistency between GPT-4, DeepSeek, and SparkDesk models and human ratings was moderate, with ICC values of 0.514, 0.560, and 0.515 respectively (all P0.001); in contrast, the overall score of ERNIE Bot showed poor consistency with human ratings, with an ICC of 0.221 ( P0.001). Conclusion:LLMs demonstrate high accuracy in detecting errors in head and neck CTA imaging reports. The overall scoring of report quality shows moderate consistency with manual assessments, indicating a certain feasibility for automated quality control in reporting.

Diminished ovarian reserve (DOR) is a major cause of female infertility, characterized by a complex and multifactorial etiology involving aging, genetic predisposition, environmental factors, and immune mechanisms. Therapeutic options for DOR remain limited, with no currently established treatments demonstrating consistently robust efficacy. Recent advances in regenerative medicine—including the use of mesenchymal stem cells and their derivatives, platelet-rich plasma and in vitro activation—have opened promising new avenues for ovarian function restoration. This review offers a comprehensive summary of research progress in DOR treatment over the past five years, covering hormonal therapies, assisted reproductive technologies, nutritional supplementation and lifestyle modifications, Traditional Chinese Medicine, targeted therapies, and regenerative medicine approaches, with the aim of providing guidance for clinical management of DOR.

Objective To investigate the therapeutic effects and mechanisms of Hibiseu Manihot L.fructus on type 2 diabetes mellitus(T2DM)mice.Methods T2DM mice were randomly divided into normal group,model group,positive drug group,Hibiseu Manihot L.fructus total extract group,water-solube part group,and Hibiseu Manihot L.fructus ethyl acetate fraction group,with 10 mice in each group.After 4 weeks of treatment,anti-diabetic effects were evaluated by monitoring body mass,fasting blood glucose(FBG),oral glucose tolerance test(OGTT),fasting insulin(FINS),homeostasis model assessment of insulin resistance(HOMA-IR),and area under the blood glucose curve(AUC).Liver tissue status was assessed through liver index and hematoxylin-eosin(HE)staining.Results Compared with the model group,the water-solube part and total extract group showed significant improvements in mental status,food intake,body mass,excretion,and the FBG elevation was effectively suppressed,OGTT,FINS,AUC,HOMA-IR and liver index were significantly decreased(P＜0.05 or P＜0.01),the histopathological analysis revealed improved liver tissue morphology.Regarding channel protein expression,compared with the model group,the water-solube part group exhibited significantly upregulated phosphorylation levels of protein kinase B(AKT)and phosphatidylinositol 3-kinase(PI3K)in mouse liver tissue(P＜0.05),furthermore,the positive drug group,total extract group,and water-solube part group all demonstrated markedly increased phosphorylation of adenosine monophosphate-activated protein kinase(AMPK)in hepatic tissues(P＜0.05).Conclusion The water-solube part of fructus of Hibiseu Manihot L fructus.effectively alleviates T2DM symptoms(polyphagia,polydipsia,polyuria,weight loss)and glucose metabolism disorders,with hepatoprotective effects potentially mediated through PI3K/AKT pathway activation and enhanced p-AMPK expression.

Objective: To investigate whether TYRO protein tyrosine kinase-binding protein (TYROBP) affects the progression of diabetic kidney disease (DKD) through the extracellular signal-regulated kinase ( ERK) pathway. Methods: Key genes in DKD were identified through bioinformatics analysis . Immunohistochemical staining and quantitative real-time PCR (qPCR) were used to validate the expression levels of TYROBP in a DKD mouse model and high glucose-stimulated NRK-52E cells . NRK-52E cell models with stable TYROBP overexpression/knockdown and their corresponding empty vector (ev) /scrambled sequence (ss) controls were established via lentiviral trans- fection . Cells were treated with 5 . 5 mmol/L or 30. 0 mmol/L glucose for 72 hours to mimic normal glucose (NG) and high glucose ( HG) conditions , respectively. High glucose medium containing 3 . 5 μmol/L FR180204 was used for ERK inhibitor intervention . The experiment included seven groups : ev + NG , ev + HG , oe-TYROBP + HG , ss + NG , ss + HG , sh-TYROBP + HG , and sh-TYROBP + HG + ERK inhibitor. Western blot was used to de- tect the expression levels of phosphorylated ERK/total ERK (p-ERK/ERK) , apoptosis-related proteins B-cell lym- phoma-2 (Bcl-2) and Bcl-2-associated X protein ( Bax) , and epithelial-mesenchymal transition ( EMT)-related proteins E-cadherin and α-smooth muscle actin ( α-SMA) . Tetramethylrhodamine ethyl ester (TMRE) staining and Annexin V-fluorescein isothiocyanate/propidium iodide (Annexin V-FITC/PI) flow cytometry were performed to as- sess mitochondrial membrane potential and apoptosis levels . Results: Bioinformatics analysis identified TYROBP as a key gene in DKD . In vivo and in vitro validation showed increased TYROBP mRNA levels in DKD models . The results from the HG model indicated that , compared to the ev + NG/ss + NG group , the ev + HG/ss + HG group demonstrated increased p-ERK/ERK expression , reduced mitochondrial membrane potential , elevated apoptosis , and enhanced EMT. In TYROBP-perturbed NRK-52E cells , compared to the ev + HG group , the oe-TYROBP + HG group showed decreased p-ERK/ERK expression (P < 0. 01) , increased mitochondrial membrane potential (P < 0. 05) , reduced apoptosis (P < 0. 001) , and attenuated EMT; whereas compared to the ss + HG group , the sh- TYROBP + HG group exhibited increased p-ERK/ERK expression ( P < 0. 001) , decreased mitochondrial mem- brane potential (P < 0. 01) , elevated apoptosis (P < 0. 001) , and enhanced EMT. Furthermore , compared to the sh-TYROBP + HG group , the sh-TYROBP + HG + ERK inhibitor group displayed reduced p-ERK/ERK expression (P < 0. 01) , increased mitochondrial membrane potential ( P < 0. 001) , decreased apoptosis ( P < 0. 001) , and suppressed EMT. Compared with the scrambled sequence control + high glucose group , the TYROBP knockdown + high glucose group showed elevated p-ERK/ERK expression ( P < 0. 001) , reduced mitochondrial membrane potential (P < 0. 01) , increased apoptosis level (P < 0. 001) , and enhanced EMT. Compared with the TYROBP knockdown + high glucose group , the TYROBP knockdown + high glucose + ERK inhibitor group demonstrated decreased p-ERK/ERK expression (P < 0. 01) , restored mitochondrial membrane potential (P < 0. 001) , reduced apoptosis level (P < 0. 001) , and suppressed EMT. Conclusion TYROBP may regulate the ERK signaling path- way to modulate apoptosis- and EMT-related proteins , thereby influencing mitochondrial membrane potential , apop- tosis , and EMT in renal tubular epithelial cells and contributing to DKD progression .

Objective:To analyze the epidemiological characteristics and infection sources of cholera in China from 2005 to 2024.Methods:A total of 2 066 cholera cases were included in the study, which were obtained from the China Disease Control and Prevention Information System (CDPCIS) of China CDC. The information on cholera clusters was downloaded from the National Public Health Emergency Event Surveillance System (PHEESS) of China CDC. A total of 128 cholera clusters were included and analyzed in this study. The epidemiological characteristics and infection sources of cholera were analyzed. The Jointpoint model was applied to analyze the incidence trend, and annual percentage change (APC) was also quantified.Results:From 2005 to 2024, a total of 2 066 cholera cases were reported, with an average of 103 cases reported annually. Specifically, the incidence showed a marked downward trend from 2004 to 2015 ( APC=-26.78%, P=0.006). During 2015-2024, the disease remained at low endemic levels, with an average of 18 reported cases annually ( APC=-2.68%, P=0.807). Cholera peak season was from May to October. A total of 24 provinces reported cholera cases, which were mainly distributed in Zhejiang, Fujian, Beijing, Jiangsu, Anhui, Guangdong, and Hainan provinces, accounting for 78.03% of the total cases. Pathogen surveillance indicated an alternating prevalence of Vibrio cholerae serogroups O1 and O139 among laboratory-confirmed cases between 2005 and 2024. There was a disparity in the dominant serogroup of Vibrio cholerae by region. The results from 128 cholera clusters indicated that cholera outbreaks frequently occurred in rural banquets (64.84%), followed by regular restaurants (13.28%). Among these, 63 clusters (49.22%) with identified infection sources indicated that foodborne transmission (95.24%) was the primary mode of cholera transmission, which mainly through seafood and aquatic products, such as soft-shelled turtles, shrimp and shellfish. The characteristics of cholera clusters caused by Vibrio cholerae serogroups O1 and O139 showed statistically significant differences in scale, attack rate, place of residence, setting, and infection source ( P<0.05). Conclusion:Cholera incidence has remained consistently low since 2015 in China, mainly in sporadic cases. Rural gatherings (e.g., wedding banquets) are the main settings for cholera clusters. The main infection sources are predominantly caused by cross-contamination due to improper processing practices of aquatic products, such as soft-shelled turtles.

This consensus was developed by the Orthodontic Society of the Chinese Stomatological Association to provide a systematic, scientific, and practical guideline for informed consent in orthodontic care. Orthodontic treatment is typically lengthy, highly individualized, and involves multiple factors such as growth and development, occlusal function, and facial esthetics. Rapid technological advances and diverse risk profiles make the traditional reliance on orthodontist experience or institutional templates insufficient to ensure patients′ full understanding and autonomous decision-making. To address this, the expert panel conducted extensive reviews of domestic and international guidelines, analyzed representative dispute cases, and performed multicenter patient-clinician surveys. Using a multi-round Delphi method, the group established a standardized informed consent framework covering the initial consultation, treatment, and retention phases. The consensus emphasizes that informed consent is not only a fundamental legal and ethical requirement but also a key step in building trust, improving patient compliance, and enhancing treatment satisfaction. Orthodontists should clearly and comprehensively explain treatment plans, potential risks, uncertainties, and associated costs, while respecting the autonomy of patients or guardians, and maintain continuous communication and dynamic evaluation throughout the treatment process. The release of this consensus provides unified and authoritative guidance for clinical orthodontics, helping to standardize informed consent, enhance its transparency, safeguard patient rights, reduce medical risks, and promote high-quality, sustainable development of orthodontic practice.

Hair follicles are complex organs consisting of multiple cell types. Single-cell sequencing technology can identify the transcriptional characteristics of various cell types and subsets in tissues at the single-cell level, comprehensively revealing the heterogeneity among cell populations. This review focuses on the latest advances in the application of single-cell sequencing to the study on molecular characteristics of mouse and human hair follicle cells and cell fate regulation, as well as aging, microbial symbiosis, and the pathogenesis of hair loss and hair graying. Single-cell sequencing can serve as a novel tool for studying the morphogenesis, cell types, physiological and pathological states of hair follicles, and has revealed important information that had not been found in traditional research, which is meaningful for hair-related studies.