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.Epidemiological characteristics of norovirus outbreaks in Haidian District, Beijing in 2016 - 2022
Li GUO ; Zhiyong GAO ; Wei CAI ; Feng LIU ; Yunping SHAO
Journal of Public Health and Preventive Medicine 2025;36(1):41-44
Objective To analyze the epidemiological characteristics of norovirus outbreaks in Haidian District, Beijing, and to provide a reference for epidemic prevention and control. Methods Descriptive epidemiological methods were used to organize and statistically analyze the norovirus outbreak data reported from 2016 to 2022. Results A total of 26 outbreaks of norovirus were reported in Haidian District, with a total of 1595 cases and an attack rate M (QR) of 8.23 (16.33)%. There were 24 cases of norovirus type GII (92.31%), 1 case of type GI (3.85%), and 1 case of mixed infection of virus type GI/GII (3.85%). The highest number of reported outbreaks occurred in March and April, with 17 cases, accounting for 65.38%. The highest number of reported cases was in November and December, with 785 cases, accounting for 44.92%. The case age M (QR) was 18 (14) years old. The detection rate of positive samples in different age groups had statistical significance(χ2=12.021, P=0.007). The 26 outbreaks were mainly distributed in collective units such as schools, preschool institutions, and enterprises and institutions. There were a total of 11 outbreaks related to foodborne transmission, with 923 cases, accounting for 57.87%. Diarrhea was positively correlated with the age of the cases (rs=0.572, P<0.001), while vomiting was negatively correlated with the age of the cases (rs=-0187, P<0.001). The time interval between the onset of acute gastroenteritis symptoms in the first case and the reporting of the epidemic was positively correlated with the duration of the epidemic (rs=0.586, P=0.002). Conclusion It is necessary to strengthen the prevention and control of norovirus in schools (primary and secondary schools and colleges), strictly implement health monitoring and regular screening for kitchen workers, carry out publicity and education, detect cases as early as possible, report the epidemic in a timely manner, and effectively reduce the scale of the epidemic and prevent its spread.
5.Primary biliary cholangitis comorbid with other connective tissue diseases: Thoughts and challenges
Siyan CAI ; Yi WEI ; Xu WANG ; Li WANG ; Fengchun ZHANG
Journal of Clinical Hepatology 2025;41(5):817-822
Primary biliary cholangitis (PBC) is a chronic progressive autoimmune liver disease that is often comorbid with other connective tissue diseases (CTDs), and such comorbidity can significantly alter the natural course or clinical phenotype of PBC or CTDs, limiting available therapeutic drugs and complicating clinical decision-making. Due to the involvement of the interdisciplinary subjects of hepatology, rheumatology, and clinical immunology and a paucity of large-scale cohort data and in-depth basic research, there is a limited understanding of such comorbidity in clinical practice, which increases the complexity of clinical diagnosis and treatment. This article summarizes the comorbidity of PBC with common CTDs such as Sjögren’s syndrome, systemic sclerosis, systemic lupus erythematosus, and idiopathic inflammatory myopathies, and analyzes related immune mechanisms, clinical manifestations, diagnostic challenges, treatment strategies, and prognosis. It is expected to establish PBC-CTD comorbidity cohorts through future multidisciplinary collaborations, focus on genetic background, immune mechanisms, and multi-omics approaches, elucidate pathogenesis and novel therapeutic targets, and improve the prognosis of patients by optimizing treatment strategies through precision medicine and artificial intelligence.
6.Relationship between Apelin and DLL4 levels and clinical stage and efficacy in patient with neovascular glaucoma
Feng ZHU ; Nianjun CHEN ; Wei CAI ; Ximei LI ; Qifeng LEI
International Eye Science 2025;25(7):1130-1134
AIM: To investigate the relationship between Apelin and δ-like ligand 4(DLL4)expression levels and clinical stage and efficacy in patients with neovascular glaucoma(NVG).METHODS: A total of 96 NVG patients(96 eyes)who were admitted to our hospital from January 2022 to March 2024(NVG group)and 96 cataract patients(96 eyes)who underwent cataract surgery in our hospital during the same period(control group)were selected. NVG patients were divided into stage Ⅰ group(22 eyes), stage Ⅱ group(47 eyes)and stage Ⅲ group(27 eyes)according to the clinical stage; furthermore, patients were divided into ineffective group(20 eyes)and effective group(76 eyes)according to efficacy. Aqueous humor Apelin and DLL4 levels were detected by enzyme-linked immunosorbent assay. The influencing factors of the efficacy in NVG patients were analyzed by multivariate unconditional Logistic regression analysis, the evaluation efficiency of aqueous humor Apelin and DLL4 levels on the efficacy in NVG patients was analyzed by receiver operating characteristic(ROC)curve.RESULTS: Compared with the control group, aqueous humor Apelin and DLL4 levels in the NVG group were increased(all P<0.001). Aqueous humor Apelin and DLL4 levels in the stage Ⅰ, stage Ⅱ and stage Ⅲ groups increased in turn(all P<0.001). The effective rate of 96 NVG patients was 79.2%(76/96). Compared with the effective group, aqueous humor Apelin and DLL4 levels in the ineffective group increased(all P<0.001). Clinical stage III, high intraocular pressure, high Apelin and DLL4 were independent risk factors for ineffective treatment in NVG patients(all P<0.05). The area under the curve of the combined evaluation of aqueous humor Apelin and DLL4 levels in evaluating the efficacy of NVG patients was 0.874, which was greater than 0.790 and 0.786 of aqueous Apelin and DLL4 levels alone(all P<0.05).CONCLUSION: Aqueous humor Apelin and DLL4 levels in NVG patients increase, which relate to the increase of clinical stage and poor efficacy, and the combination of aqueous humor Apelin and DLL4 levels is more effective in evaluating the efficacy of NVG patients.
7.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.
8.Effect of Spraying Nano-calcium Carbonate and Calcium Nitrate Tetrahydrate on Characters, Carbohydrate Components and Endogenous Hormones of Dendrobium officinale
Jing LI ; Rong ZHOU ; Yingyue HOU ; Wei CAI ; Xiaoyan ZHANG ; Shuang ZHANG ; Guangying DU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(15):208-216
ObjectiveTo investigate the effects of foliar fertilizer of nano-calcium carbonate and calcium nitrate tetrahydrate on the agronomic traits, carbohydrate and endogenous hormone contents of Dendrobium officinale planted for 1 year under greenhouse cultivation, in order to provide scientific basis for fertilization to improve the yield and quality of D. officinale. MethodsSingle-factor experimental design was adopted. Starting from early spring, D. officinale was treated with foliar spraying according to corresponding fertilizers. Three treatment groups were established based on different fertilizers, namely, a blank group(clear water), a nano-calcium carbonate group(0.727 g·L-1 nano-calcium carbonate water-soluble fertilizer), and a calcium nitrate tetrahydrate group(1.091 g·L-1 calcium nitrate tetrahydrate water-soluble fertilizer). The frequency of spraying was three times per month, and the entire treatment process lasted for nine months. The effects of various treatments on the traits and relative chlorophyll content of D. officinale were dynamically monitored. Sampling was conducted at three specific time points:August 2, 2023, September 8, 2023, and November 1, 2023, respectively. The contents of glucose and mannose in D. officinale stems were determined by high performance liquid chromatography(HPLC), the content of soluble sugars in D. officinale stems and leaves was determined by phenol method, and enzyme-linked immunosorbent assay(ELISA) was used to detect the concentrations of cytokinin and auxin. ResultsCompared with the blank group, the treatments with nano-calcium carbonate and calcium nitrate tetrahydrate could significantly increase stem length, stem node number, leaf number, and tiller number. Among them, during the harvesting period in November, the stem length and tiller number, which are indicators related to the yield of D. officinale, increased by 60.85% and 19.23% after treatment with calcium nitrate tetrahydrate, and by 32.54% and 28.85% after treatment with nano-calcium carbonate, respectively. Compared with the blank group, treatments with nano-calcium carbonate and calcium nitrate tetrahydrate could promote the accumulation of sucrose in the stems and leaves of D. officinale to varying degrees, as well as the accumulation of polysaccharides, mannose, and glucose in the stems. In addition, nano-calcium carbonate treatment also facilitated the accumulation of fructose in the stems and leaves of D. officinale. Specifically, during the harvesting period in November, polysaccharides and mannose, which were the main active ingredients in D. officinale stems, increased by 28.48% and 29.36% after treatment with calcium nitrate tetrahydrate, and by 39.91% and 82.62% after treatment with nano-calcium carbonate, respectively. In addition, compared with the blank group, the concentrations of auxin in the stems and leaves of D. officinale were significantly increased after treatment with calcium nitrate tetrahydrate(P<0.05). Similarly, the concentrations of cytokinin and auxin in the stems of D. officinale were also elevated after treatment with nano-calcium carbonate. Correlation analysis further indicated that elongation growth and tillering of D. officinale stems after foliar spraying of nano-calcium carbonate and calcium nitrate tetrahydrate might be related to the accumulation of carbohydrates in the stems and leaves and the synergistic effect of auxin and cytokinin. ConclusionIn production practice, spraying nano-calcium carbonate and calcium nitrate tetrahydrate can promote the accumulation of cytokinin, auxin, and carbohydrate contents in the stems and leaves of D. officinale, and promote tillering and elongation growth of the stems.
9.Practical research on the training of intensive care medicine talents in Xizang based on cloud teaching rounds
Wei DU ; Guoying LIN ; Xiying GUI ; Li CHENG ; Xin CAI ; Jianlei FU ; Xiwei LI ; Pubu ZHUOMA ; Yang CI ; Danzeng QUZHEN ; Lü JI ; Ciren SANGZHU ; Wa DA ; Juan GUO ; Cheng QIU
Chinese Journal of Medical Education Research 2024;23(8):1065-1068
In view of the problem of slow development of intensive care medicine in Xizang, the research team made full use of the national partner assistance to Xizang, gathered resources across all cities in Xizang, and formed a national academic platform for critical care medicine in plateau areas. Adhering to the academic orientation with hemodynamics as the main topic, critical care ultrasound as the bedside dynamic monitoring and evaluation method, and blood flow-oxygen flow resuscitation as the core connotation, we have achieved the goals of improving the critical care talent echelon throughout Xizang, driving the overall progress of intensive care medicine in Xizang, making a figure in China, and focusing on training of top-notch talents.
10.Safety of high-carbohydrate fluid diet 2 h versus overnight fasting before non-emergency endoscopic retrograde cholangiopancreatography: A single-blind, multicenter, randomized controlled trial
Wenbo MENG ; W. Joseph LEUNG ; Zhenyu WANG ; Qiyong LI ; Leida ZHANG ; Kai ZHANG ; Xuefeng WANG ; Meng WANG ; Qi WANG ; Yingmei SHAO ; Jijun ZHANG ; Ping YUE ; Lei ZHANG ; Kexiang ZHU ; Xiaoliang ZHU ; Hui ZHANG ; Senlin HOU ; Kailin CAI ; Hao SUN ; Ping XUE ; Wei LIU ; Haiping WANG ; Li ZHANG ; Songming DING ; Zhiqing YANG ; Ming ZHANG ; Hao WENG ; Qingyuan WU ; Bendong CHEN ; Tiemin JIANG ; Yingkai WANG ; Lichao ZHANG ; Ke WU ; Xue YANG ; Zilong WEN ; Chun LIU ; Long MIAO ; Zhengfeng WANG ; Jiajia LI ; Xiaowen YAN ; Fangzhao WANG ; Lingen ZHANG ; Mingzhen BAI ; Ningning MI ; Xianzhuo ZHANG ; Wence ZHOU ; Jinqiu YUAN ; Azumi SUZUKI ; Kiyohito TANAKA ; Jiankang LIU ; Ula NUR ; Elisabete WEIDERPASS ; Xun LI
Chinese Medical Journal 2024;137(12):1437-1446
Background::Although overnight fasting is recommended prior to endoscopic retrograde cholangiopancreatography (ERCP), the benefits and safety of high-carbohydrate fluid diet (CFD) intake 2 h before ERCP remain unclear. This study aimed to analyze whether high-CFD intake 2 h before ERCP can be safe and accelerate patients’ recovery.Methods::This prospective, multicenter, randomized controlled trial involved 15 tertiary ERCP centers. A total of 1330 patients were randomized into CFD group ( n = 665) and fasting group ( n = 665). The CFD group received 400 mL of maltodextrin orally 2 h before ERCP, while the control group abstained from food/water overnight (>6 h) before ERCP. All ERCP procedures were performed using deep sedation with intravenous propofol. The investigators were blinded but not the patients. The primary outcomes included postoperative fatigue and abdominal pain score, and the secondary outcomes included complications and changes in metabolic indicators. The outcomes were analyzed according to a modified intention-to-treat principle. Results::The post-ERCP fatigue scores were significantly lower at 4 h (4.1 ± 2.6 vs. 4.8 ± 2.8, t = 4.23, P <0.001) and 20 h (2.4 ± 2.1 vs. 3.4 ± 2.4, t= 7.94, P <0.001) in the CFD group, with least-squares mean differences of 0.48 (95% confidence interval [CI]: 0.26–0.71, P <0.001) and 0.76 (95% CI: 0.57–0.95, P <0.001), respectively. The 4-h pain scores (2.1 ± 1.7 vs. 2.2 ± 1.7, t = 2.60, P = 0.009, with a least-squares mean difference of 0.21 [95% CI: 0.05–0.37]) and positive urine ketone levels (7.7% [39/509] vs. 15.4% [82/533], χ2 = 15.13, P <0.001) were lower in the CFD group. The CFD group had significantly less cholangitis (2.1% [13/634] vs. 4.0% [26/658], χ2 = 3.99, P = 0.046) but not pancreatitis (5.5% [35/634] vs. 6.5% [43/658], χ2 = 0.59, P = 0.444). Subgroup analysis revealed that CFD reduced the incidence of complications in patients with native papilla (odds ratio [OR]: 0.61, 95% CI: 0.39–0.95, P = 0.028) in the multivariable models. Conclusion::Ingesting 400 mL of CFD 2 h before ERCP is safe, with a reduction in post-ERCP fatigue, abdominal pain, and cholangitis during recovery.Trail Registration::ClinicalTrials.gov, No. NCT03075280.


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