1.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
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.
2.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
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.
3.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
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.
4.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
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.
5.Impact of an emotion management course on emotion regulation, coping strategies, and mental health among first-year university students
Yating NIU ; Ming QIAN ; Jinping ZHOU ; Qin YUAN ; Xiaoping XING
Shanghai Journal of Preventive Medicine 2025;37(3):265-270
ObjectiveTo develop an emotion management course and evaluate its effectiveness in improving emotion regulation, coping strategies, and anxiety and depression among first-year university students, so as to provide a basis for colleges to optimize mental health education courses. MethodsUsing a multi-stage cluster random sampling method, five classes of first-year students (n=169) from a university were randomly selected as participants, with three classes assigned to the experimental group (n=102) and two classes to the control group (n=67). The experimental group attended both the standard mental health education course and the emotion management course developed in this study, while the control group only attended the standard mental health education course. Pre- and post-intervention assessments were conducted using the Emotion Regulation Questionnaire (ERQ), Simplified Coping Style Questionnaire (SCSQ), Self-Rating Anxiety Scale (SAS), and Self-Rating Depression Scale (SDS). ResultsBefore the intervention, there were no significant differences between the experimental group and the control group in ERQ, SCSQ, SDS, and SAS scores (P>0.05). After the intervention, the experimental group demonstrated greater improvements than the control group in the ERQ expression inhibition subscale (14.42±5.05, 16.12±5.65), SCSQ positive coping tendency (1.97±0.51, 1.80±0.49) and negative coping tendency (1.26±0.55, 1.47±0.50), as well as in SDS (50.26±11.48, 53.86±8.21) and SAS (43.96±11.97, 47.59±9.50) scores (t value: 2.039, 2.144, 2.572; Z value: -2.214, -2.486; P<0.05). Compared with pre-intervention scores, the experimental group also showed improvements in the ERQ cognitive reappraisal subscale (32.19±5.76, 30.92±6.18), SCSQ positive coping tendency (1.97±0.51, 1.83±0.48), and SDS scores (50.26±11.48, 50.75±11.59) (t value: -2.654, -3.027; Z value: -2.100, P<0.05). ConclusionThe emotion management course effectively enhances students’ use of cognitive reappraisal strategies while reducing reliance on expressive suppression. It also contributes to improvements in coping strategies for life events and alleviates symptoms of depression and anxiety. Universities should consider integrating emotion management education into their curricula to enhance the mental well-being of first-year students.
6.Establishment of Psoriasis Rat Model with Spleen Deficiency and Dampness Obstruction Syndrome Induced by External Dampness Factors
Yating ZHANG ; Haojie SU ; Fanlu LIU ; Panyu ZHOU ; Qing WANG ; Junhong ZHANG ; Jingjing WU ; Ling HAN
Journal of Traditional Chinese Medicine 2025;66(13):1369-1377
ObjectiveTo construct a rat model of psoriasis with spleen deficiency and dampness obstruction syndrome (external dampness type), and evaluate the macroscopic manifestations and microscopic indicators of the model. MethodsTwenty-two SD rats were divided into normal group (n=3), common psoriasis group (n=5), spleen deficiency and dampness obstruction syndrome (external dampness type) group (n=7), and psoriasis with spleen deficiency and dampness obstruction syndrome (external dampness type) group (n=7). The spleen deficiency and dampness obstruction syndrome (external dampness type) rat model was established through 32-week exposure to an artificially simulated high-humidity environment, while the common psoriasis model was developed via 7-day topical application of imiquimod cream, and these two approaches were combined to construct a composite model of psoriasis with spleen deficiency and dampness obstruction syndrome (external dampness type). Rats in the normal group were housed under normal humidity conditions. The general state, tongue manifestation of rats were observed to evaluate the macroscopic syndrome manifestations; the microscopic syndrome manifestations of rats were evaluated through adipose tissue and liver tissue changes; the severity of psoriasis in rats was evaluated through skin pathological changes, psoriasis area and severity index (PASI), proliferating cell nuclear antigen (PCNA) expression and spleen tissue changes; changes in rat CD4+ interferon-γ+ cells (CD4+IFN-γ+ cells), CD4+ tumour necrosis factor-α+ cells (CD4+ TNF-α+ cells), and forkhead framing protein P3+ regulatory T cells (CD3+CD4+FoxP3+ Treg cells) were detected by flow cytometry. ResultsMacroscopically, both the spleen deficiency and dampness obstruction syndrome (external dampness type) group and psoriasis with spleen deficiency and dampness obstruction syndrome (external dampness type) group exhibited manifestations of spleen deficiency and dampness obstruction, including lethargy, huddling behavior, dull and disheveled fur, as well as soft or loose stools and perianal soiling in some individuals; both these two groups displayed enlarged tongue, swollen, and moist tongue texture, accompanied by slippery tongue surface. Microscopically, compared to the common psoriasis group, the psoriasis with spleen deficiency and dampness obstruction syndrome (external dampness type) group showed increased epididymal fat index (P<0.05); compared to the normal group and spleen deficiency and dampness obstruction syndrome (external dampness type) group, the psoriasis with spleen deficiency and dampness obstruction syndrome (external dampness type) group demonstrated significantly elevated spleen mass (P<0.05), while hepatic gross morphology and HE staining revealed no significant histopathological changes across all groups. Dorsal skin lesions were markedly exacerbated in the psoriasis with spleen deficiency and dampness obstruction syndrome (external dampness type) group when compared to those in common psoriasis group. Both the common psoriasis group and psoriasis with spleen deficiency and dampness obstruction syndrome (external dampness type) group exhibited significantly higher erythema scores, scaling scores, infiltration scores, PASI total scores, and proportions of CD3+CD4+FoxP3+Treg cells compared to the normal group and spleen deficiency and dampness obstruction syndrome (external dampness type) group (P<0.05), with pronounced PCNA-positive expression observed in the epidermal basal layer and dermis; the psoriasis with spleen deficiency and dampness obstruction syndrome (external dampness type) group displayed significantly increased proportions of CD4+TNF-α+cells compared to the spleen deficiency and dampness obstruction syndrome (external dampness type) group (P<0.05); whereas no significant differences were detected in CD4+IFN-γ+cell proportions among groups (P>0.05). ConclusionThe rat model of psoriasis with spleen deficiency and dampness obstruction syndrome (external dampness type) can be successfully constructed by artificially simulating a high-humidity environment combined with imiquimod induction.
7.Epidemiological characteristics of foodborne disease outbreaks in Wuhan, Hubei Province from 2006 to 2023
Yue ZHOU ; Mengdie SHI ; Xiao WANG ; Xiaomin WU ; Yating WU
Shanghai Journal of Preventive Medicine 2025;37(7):549-555
ObjectiveTo analyze the epidemiological characteristics of foodborne disease outbreaks in Wuhan from 2006 to 2023, and to provide a scientific basis for the development of foodborne disease prevention and control measures. MethodsDescriptive statistical analyses were performed on foodborne disease outbreaks confirmed by the district and municipal center for disease control and prevention (CDC) in Wuhan from 2006 to 2023, and the attack rate and case fatality rate were calculated as well. ResultsA total of 182 foodborne disease outbreaks were reported in Wuhan from 2006 to 2023, with a cumulative of 2 820 cases. Among which, 3 cases were dead, with an annual average attack rate of 1.22% and a case fatality rate of 0.11%. The highest number of outbreaks occurred in collective canteens (43.96%, 80/182), the highest attack rate was observed in catering facilities (11.03%), and the highest case fatality rate was found in households (1.45%). Among the foodborne disease outbreaks with identified etiologies, microbial factors were the leading causes (36.26%, 66/182), with the main pathogens being norovirus, Bacillus cereus, and other unspecified bacteria. Fungal factors were mainly attributed to poisonous mushrooms, with a relatively high fatality rate of 2.22% (2/90). Outbreaks caused by bacterial factors were more common in the central urban area (30.28%, 33/109), while fungal-related outbreaks were more frequent in the outlying urban areas (24.66%, 18/73). ConclusionCollective canteens are the main venues for foodborne disease outbreaks in Wuhan. Microbial factors are the main pathogenic factors, and poisonous mushrooms are the leading causes to death. It is necessary to strengthen the supervision on collective canteens, carry out various forms of public awareness campaigns on poisonous mushroom poisoning, and, if required, cooperate with the gardening department to eradicate wild poisonous mushrooms in the green belts. A collaborative cooperation involving multiple departments is essential to reduce the occurrence of foodborne disease outbreaks.
8.Strontium-Alix interaction enhances exosomal miRNA selectively loading in synovial MSCs for temporomandibular joint osteoarthritis treatment.
Wenxiu YUAN ; Jiaqi LIU ; Zhenzhen ZHANG ; Chengxinyue YE ; Xueman ZHOU ; Yating YI ; Yange WU ; Yijun LI ; Qinlanhui ZHANG ; Xin XIONG ; Hengyi XIAO ; Jin LIU ; Jun WANG
International Journal of Oral Science 2025;17(1):6-6
The ambiguity of etiology makes temporomandibular joint osteoarthritis (TMJOA) "difficult-to-treat". Emerging evidence underscores the therapeutic promise of exosomes in osteoarthritis management. Nonetheless, challenges such as low yields and insignificant efficacy of current exosome therapies necessitate significant advances. Addressing lower strontium (Sr) levels in arthritic synovial microenvironment, we studied the effect of Sr element on exosomes and miRNA selectively loading in synovial mesenchymal stem cells (SMSCs). Here, we developed an optimized system that boosts the yield of SMSC-derived exosomes (SMSC-EXOs) and improves their miRNA profiles with an elevated proportion of beneficial miRNAs, while reducing harmful ones by pretreating SMSCs with Sr. Compared to untreated SMSC-EXOs, Sr-pretreated SMSC-derived exosomes (Sr-SMSC-EXOs) demonstrated superior therapeutic efficacy by mitigating chondrocyte ferroptosis and reducing osteoclast-mediated joint pain in TMJOA. Our results illustrate Alix's crucial role in Sr-triggered miRNA loading, identifying miR-143-3p as a key anti-TMJOA exosomal component. Interestingly, this system is specifically oriented towards synovium-derived stem cells. The insight into trace element-driven, site-specific miRNA selectively loading in SMSC-EXOs proposes a promising therapeutic enhancement strategy for TMJOA.
MicroRNAs/metabolism*
;
Mesenchymal Stem Cells/drug effects*
;
Osteoarthritis/drug therapy*
;
Exosomes/drug effects*
;
Strontium/pharmacology*
;
Synovial Membrane/cytology*
;
Humans
;
Animals
;
Temporomandibular Joint Disorders/therapy*
;
Temporomandibular Joint
9.Clinical Distribution Characteristics and Correlation of Cat and Dog Dander Allergens and Mold Allergens
Wentao LIU ; Shitong QIN ; Huanting LI ; Xin ZHOU ; Peiran CHEN ; Yating LI ; Peiying FENG
Journal of Sun Yat-sen University(Medical Sciences) 2025;46(6):1050-1057
ObjectiveTo explore the distribution patterns and correlations of pet-related cat/dog dander allergens and mold allergens in patients with allergic diseases, providing evidence for individualized diagnosis, treatment, and prevention strategies. MethodsA retrospective analysis was conducted on 798 patients diagnosed with allergic diseases at the Third Affiliated Hospital of Sun Yat-sen University between April 2021 and October 2023. All patients underwent UniCAP platform testing for specific immunoglobulin E (sIgE) levels against cat dander, dog dander, and mold mix (mx1/mx2), alongside total IgE (tIgE) quantification. Descriptive statistics, Mann-Whitney U tests, and chi-square analyses were employed to evaluate allergen distribution and interrelationships. ResultsAmong the 798 patients (395 males, 403 females, ratio 1∶1.02), their ages ranged from 0.67 to 69 years (median 14 years, IQR 6-29). A total of 63.2% (504/798) had a single allergic disease, with allergic rhinitis (AR, 49.2%) being the most common. The remaining 36.8% (294/798) had ≥2 allergic diseases, with AR combined with atopic dermatitis (AD, 10.7%) as the predominant comorbidity. The positivity rate for cat/dog dander sIgE was 24.1% (192/798), with a significantly higher prevalence in females (30.8%) than males (16.7%, P<0.05). Cat dander sensitization increased with age in patients under 18 years. Among positive cases, cat dander sIgE level 2 was most frequent (25.9%), while dog dander sIgE level 1 predominated (55%). Patients with cat dander sIgE levels 4-6 had significantly higher tIgE than those with levels 1-3 (P<0.05). The positivity rate for mold mix (mx1/mx2) sIgE was 7.4% (59/798), with mx2 as the primary sensitizer and level 2 being the most common. In mx2-positive patients, the cat/dog dander sIgE positivity rate (44.8%) was significantly higher than that in mx2-negative patients (17.9%, P<0.05), and tIgE levels were also higher (P<0.05). ConclusionCat dander sensitization increases with age in children. Cat/dog dander and mold allergens are closely linked to AR and AR combined with AD. Synergistic correlations exist between cat/dog dander sIgE and mold mx2 sIgE. Combined detection of these allergens is critical for precision diagnosis and management of pet-related allergic diseases.
10.An Empirical Study on the Use of Diagnosis Related Group Tools for Grouping Adjustments in Large Public Hospitals
Guojie ZHANG ; Xutong TAN ; Zhiling CAI ; Qiang XU ; Weifeng XU ; Yihang CHEN ; Yating WANG ; Jinhan LIU ; Zheng CHEN ; Jiong ZHOU ; Xiaojun MA
Medical Journal of Peking Union Medical College Hospital 2024;15(5):1052-1058
To analyze the disease group structure and its trends in key departments of large public hospitals using diagnosis related group (DRG) data, explore the key points of intervention and optimization of disease groups in departments, and further promote the rational allocation of department resources. We retrospectively collected DRG data from two surgical departments in a large public hospital in Beijing from 2017 to 2023. When the case mix index (CMI) of the two surgical departments declined, interventions such as performance appraisal, department education, and hospital publicity were promptly adopted. The changesin CMI values were observed and the trends in disease group weights, time consumption index, cost consumption index, and mortality rate in low-risk groups were analyzed. After the interventions, in surgical department Ⅰ, the proportion of patients with lower-weight diseases, such as major thyroid surgery (KD1), significantly decreased, while that of patients with higher-weight diseases, such as colorectal malignancy surgery (GB2) and pancreatic malignancy surgery (HB1), significantly increased. In surgical department Ⅱ, the proportion of patients with lower-weight diseases, such as chemotherapy (RE1), decreased markedly, while that of patients with higher-weight diseases, including major surgery for malignancy of kidney, ureter, and bladder (LA1), adrenal gland surgery (KC1), surgery for kidney/ureter/bladder except for major malignancy surgery (LB1), and male genital organ malignancy surgery (MA1), increased significantly. Both surgical departments achieved the goal of increasing their CMI values. In terms of efficiency, cost, and quality indicators, the time consumption index and cost consumption index of the two surgical departments were significantly lower than 1, and the mortality rate in low-risk groups was 0. Based on actual conditions and development goals, large public hospitals can achieve improvements in CMI values and optimization of disease group structures through reasonable interventions, thereby enhancing medical efficiency and rational utilization of resources.

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