1.Association Between MTHFR C677T Gene Polymorphism and Hypertension, Hyperhomocysteinemia and Hyperlipidemia in Tibet Region
Pengchang LI ; Danni MU ; Zhijuan LIU ; Xiaoxing LIU ; Puchi ZEJI ; Liping TIAN ; Honglei LI ; Li'an HOU ; Dandan LI ; Jie WU ; Ling QIU
Medical Journal of Peking Union Medical College Hospital 2026;17(1):280-285
To explore the correlation between MTHFR C677T gene polymorphism and hypertension, hyperhomocysteinemia(Hcy), and hyperlipidemia in the Tibetan population of Tibet. Using a cluster sampling method, participants from high-altitude regions including Ngari Prefecture, Lhasa City, and Nyingchi City in Tibet were enrolled. Differences in MTHFR C677T genotype distribution among individuals with hypertension, HHcy, and hyperlipidemia were analyzed, and multivariate logistic regression was performed to assess the association between these conditions and the TT genotype. A total of 574 eligible subjects were included, with a mean age of 40.64±12.67 years. Males accounted for 46.7%(268/574) and females 53.3%(306/574). Regional distribution was 34.8%(200/574) from Nyingchi City, 33.1%(190/574) from Lhasa City, and 32.1%(184/574) from Ngari Prefecture. Mean systolic and diastolic blood pressures were 117.89±18.98 mm Hg and 79.74±14.88 mm Hg, respectively. The frequency of the TT genotype was significantly higher in the hypertension group than in the non-hypertension group(12.32% The MTHFR C677T TT genotype is significantly associated with hypertension and hyperhomocysteinemia in the Tibetan population, suggesting that this polymorphism may be a genetic risk factor for these diseases in high-altitude regions.
2.Epidemiological Characteristics and infection sources of cholera in China from 2005 to 2024
Fengfeng LIU ; Yang SONG ; Yao YI ; Jingyun ZHANG ; Siping HUANG ; Jie ZHANG ; Weili LIANG ; Liping WANG ; Yanping ZHANG ; Biao KAN ; Zhaorui CHANG
Chinese Journal of Preventive Medicine 2025;59(6):877-883
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.
3.Intelligent head and neck CT angiography report quality detection using large language models
Liping TIAN ; Xiaolu FEI ; Dan SONG ; Yao LU ; Jie LU
Chinese Journal of Radiology 2025;59(10):1118-1125
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.
4.Investigation on status quo of indwelling needle use in 77 hospitals of Chongqing city
Jingwen QIN ; Liping LIU ; Luanjiao HU ; Yongxiang MAO ; Xu ZHANG ; Ying NIE ; Jie YANG ; Guangwei LIU
Chongqing Medicine 2025;54(2):500-504
Objective To investigate the status quo of indwelling needles use in the hospitals at all lev-els in Chongqing city,and to evaluate the normalization and safety of indwelling needles use by referring to Nursing Practice Standards for Intravenous Therapy.Methods A self-designed questionnaire was used in July 2023 to conduct a cross-sectional survey on the use of indwelling needles in the hospitals at all levels in Chongqing city.Results A total of 30 807 patients in 77 hospitals were included,among them 62.67%used indwelling needles.The closed type indwelling needles accounted for 88.87%and the safety type indwelling needles accounted for 41.74%.Non-needle infusion connectors accounted for 37.78%,and steel needle con-nected with heparin caps accounted for 51.69%.95.66%of puncture site was in the upper limb,the non-cor-rosive drug infusion accounted for 87.57%,and the complications occurrence rate was 2.46%.Among the 6 419 surveyed nurses,75.51%removed indwelling needles based on clinical indications.There were statistically significant differences in the usage rates of closed type indwelling needles and non-needle infusion connectors among hospitals at different levels(P<0.05).There were also statistically significant differences in the inci-dence rates of complication and phlebitis(P<0.05).Conclusion The overall application of indwelling needles in the hospitals at all levels in Chongqing city is generally standardized,but the use of safety type indwelling needles and needle-free infusion connectors still needs to be improved.
5.Advances of low-intensity pulsed ultrasound for treatment of musculoskeletal disorders in the past decade.
Liping FU ; Lixia YUAN ; Jie WANG ; Xuelan CHEN ; Guizhi KE ; Yu HUANG ; Xinyi YANG ; Gang LIU
Journal of Southern Medical University 2025;45(3):661-668
Musculoskeletal disorders (MSDs) are characterized by extensive pathological involvement and high prevalence and cause a significant disease burden. Long-term drug administration often causes by adverse effects with poor therapeutic efficacy. Low-intensity pulsed ultrasound (LIPUS), as a specialized therapeutic modality, delivers acoustic energy at a low intensity in a pulsed wave mode, thus ensuring stable energy transmission to the target tissues while minimizing thermal effects. This non-invasive approach has demonstrated significant potential for MSD treatment by delivering effective physical stimulations. Extensive animal and clinical studies have demonstrated the efficacy of LIPUS for accelerating the healing process of fresh fractures and nonunions, promoting soft tissue regeneration and suppressing inflammatory responses. Emerging evidence suggests promising applications of LIPUS in skeletal muscle injury treatment and promoting tissue regeneration and repair. This review outlines the recent advancements and mechanistic studies of LIPUS for treatment of common MSDs including fractures, nonunions, muscle injuries, and osteoarthritis, addressing also the technical parameters of commercially available LIPUS devices, current therapeutic approaches, the existing challenges, and future research directions.
Humans
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Ultrasonic Therapy/methods*
;
Musculoskeletal Diseases/therapy*
;
Ultrasonic Waves
;
Osteoarthritis/therapy*
;
Muscle, Skeletal/injuries*
6.TYROBP attenuates the progression of diabetic kidney disease by inhibiting the ERK signaling pathway
Liang Li ; Jie Huang ; Xinling Wang ; Liping Yan ; Huiqing Yu ; Zhiguo Li
Acta Universitatis Medicinalis Anhui 2025;60(11):2026-2034
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 .
7.Clinical and genetic analysis of a child with Primary ciliary dyskinesia variants and co-existence of CCDC39 gene variants and 22q11.21 deletion.
Jie CHANG ; Xiaojuan ZHANG ; Jiao HAN ; Wan WANG ; Wei WANG ; Liping LIU
Chinese Journal of Medical Genetics 2025;42(6):736-740
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
8.Consensus on informed consent for orthodontic treatment
Yang CAO ; Bing FANG ; Zuolin JIN ; Hong HE ; Yuxing BAI ; Lin WANG ; Haiping LU ; Zhihe ZHAO ; Tianmin XU ; Weiran LI ; Min HU ; Jinlin SONG ; Jun WANG ; Fang JIN ; Ding BAI ; Xianglong HAN ; Yuehua LIU ; Bin YAN ; Jie GUO ; Jiejun SHI ; Yongming LI ; Zhihua LI ; Xiuping WU ; Jiangtian HU ; Linyu XU ; Lin LIU ; Yi LIU ; Yanqin LU ; Wensheng MA ; Shuixue MO ; Liling REN ; Shuxia CUI ; Yongjie FAN ; Jianguang XU ; Lulu XU ; Zhijun ZHENG ; Peijun WANG ; Rui ZOU ; Chufeng LIU ; Lunguo XIA ; Li HU ; Weicai WANG ; Liping WU ; Xiaoxing KOU ; Jiali TAN ; Yuanbo LIU ; Bowen MENG ; Yuantao HAO ; Lili CHEN
Chinese Journal of Stomatology 2025;60(12):1327-1336
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.
9.Application of single-cell sequencing in the hair research
Chinese Journal of Dermatology 2025;58(7):690-694
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.
10.Clinical features and prognosis of patients with primary sclerosing cholangitis:An analysis of 107 cases
Tongtong MENG ; Weijia DUAN ; Xinyu LI ; Junqi NIU ; Huiguo DING ; Ying HAN ; Wen XIE ; Lu ZHOU ; Bangmao WANG ; Liping GUO ; Jie LI ; Bei JIA ; Lingyi ZHANG ; Liang WANG ; Xiaoqian XU ; Yu WANG ; Xiaojuan OU ; Xinyan ZHAO ; Hong YOU ; Jidong JIA ; Yuanyuan KONG
Journal of Clinical Hepatology 2025;41(7):1337-1343
Objective To describe the clinical features of patients with primary sclerosing cholangitis(PSC)in China based on a nationwide multicenter patient cohort,and to investigate the risk factors for prognosis.Methods A retrospective cohort study was conducted among the patients with a confirmed diagnosis of PSC based on the electronic medical record system of seven grade A tertiary hospitals across the country,and related data were extracted.The Mann-Whitney U test was used for comparison of continuous data between groups,and the chi-square test was used for comparison of categorical data between groups.The Kaplan-Meier method was used to estimate liver transplant-free survival,and the log-rank test was used for comparison of survival rate between PSC patients with different features.The Cox regression model was used to identify independent risk factors for the prognosis of PSC patients and the interactions between key factors.Results A total of 107 patients were enrolled,among whom 55.6%(55/99)had large-duct PSC and 29.0%(31/107)had comorbidity with inflammatory bowel disease(IBD).The positivity rate of anti-neutrophil cytoplasmic antibody(ANCA)was 32.9%(24/73),and 50.0%(40/80)of the patients had an increase in IgG/IgM.The median symptom-to-diagnosis interval was 1 year(<1-4.0),and 38.3%(41/107)of the patients had progressed to decompensated cirrhosis at the time of diagnosis.The median liver transplant-free survival time was 114 months(95%confidence interval[CI]:62-166),with a 5-year survival rate of 65.7%.The multivariate analysis showed that an increase in total bile acid(TBA)(hazard ratio[HR]=1.006,95%CI:1.002-1.010,P=0.001)and a prolonged symptom-to-diagnosis interval(HR=1.252,95%CI:1.059-1.480,P=0.009)were independent risk factors for prognosis.The interaction analysis showed that compared with the female patients with TBA<50 μmol/L,both male and female patients with TBA≥50 μmol/L had a significant increase in the risk of liver transplantation or death(male:HR=16.563,95%CI:2.103-130.449,P<0.001;female:HR=17.009,95%CI:2.113-136.934,P<0.001),and compared with the patients with an age of<45 years and a TBA level of<50 μmol/L,the patients with an age of≥45 years and a TBA level of≥50 μmol/L had a significant increase in the risk of liver transplantation or death(HR=10.729,95%CI:1.325-86.859,P=0.026).Compared with the female patients with an symptom-to-diagnosis interval of≤2 years,the male patients with a symptom-to-diagnosis interval of>2 years had an increased risk of liver transplantation or death(HR=4.825,95%CI:1.725-13.644,P=0.003),and compared with the patients with an age of<45 years and a symptom-to-diagnosis interval of≤2 years,the patients with an age of<45 years and a symptom-to-diagnosis interval of>2 years had an increased risk of liver transplantation or death(HR=4.983,95%CI:1.366-18.173,P=0.015).Conclusion Compared with the reports from Western countries,large-duct PSC is also the main type of PSC in China,but with a relatively low proportion,and there is also a relatively low proportion of patients with IBD or positive ANCA.An increase in TBA and a prolonged symptom-to-diagnosis interval are independent risk factors for prognosis,with significant interactions with age and sex.This suggests that early screening and intervention should be enhanced to improve prognosis.


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