1.Acacetin Ameliorates Hyperuricemia by Regulating Uric Acid Transporter and NF-κB/NLRP3 Signaling Pathway
Xuanxia WU ; Juan BU ; YELEDAN·MAHAN ; Shengnan ZHANG ; Xiaoling ZHANG ; Ling ZHOU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(1):191-198
ObjectiveTo investigate the uric acid-lowering effects and mechanisms of acacetin on hyperuricemia (HUA) in mice. MethodsOteracil potassium and adenine were used to establish the mouse model of HUA. Male Kunming mice (n=48) were randomized into six groups: control, model, low-dose (12.5 mg·kg-1) acacetin, medium-dose (25 mg·kg-1) acacetin, high-dose (50 mg·kg-1) acacetin, and allopurinol (10 mg·kg-1). Each group received continuous gavage administration for 21 days. An automatic biochemical analyzer was used to measure the levels of uric acid (UA), creatinine (Cr), urea nitrogen (BUN), alanine aminotransferase (ALT) and aspartate aminotransferase (AST). Additionally, the activity of xanthine oxidase (XOD) in the liver and the levels of tumor necrosis factor (TNF)-α, interleukin (IL)-1β, and IL-18 in the serum were measured by enzyme-linked immunosorbent assay (ELISA). Pathological changes in the renal tissue were observed by hematoxylin-eosin (HE) staining. Western blot was employed to determine the levels of glucose transporter 9 (GLUT9), urate transporter 1 (URAT1), phospho-NF-κB p65 (p-NF-κB p65), and nucleotide-binding oligomerization domain-like receptor pyrin domain-containing 3 (NLRP3) in the renal tissue. ResultsCompared with the control group, the model group showed elevated levels of UA, Cr, BUN, ALT, and AST, increased activity of XOD in the liver(P<0.01), raised levels of TNF-α, IL-1β and IL-18 in the serum(P<0.01), and significantly up-regulated expression of GLUT9, URAT1, p-NF-κB p65, and NLRP3 in the renal tissue(P<0.01). Compared with the model group, acacetin reduced the UA level in a dose-dependent manner, significantly improved liver and kidney functions, decreased the XOD activity in the liver, ameliorated the pathological changes in the renal tissue, down-regulated the expression of GLUT9, URAT1, p-NF-κB p65 and NLRP3 in the renal tissue(P<0.01), and lowered the levels of TNF-α, IL-1β, and IL-18 in the serum(P<0.01). ConclusionAcacetin can ameliorate HUA by decreasing uric acid production, increasing uric acid excretion, and inhibiting the NF-κB/NLRP3 signaling pathway. Therefore, acacetin may be a potential drug for the treatment of HUA.
2.Study on the mechanism of Jiawei Jisheng Shenqi Decoction regulating HIF-1α/Notch pathway to improve hypoxia and antagonize liver cirrhosis
Yiling MO ; Xiaoling ZHOU ; Lin LIU ; Dongqi SUN ; Teng WU ; Yi LUO ; Bowen RUAN ; Yueming WANG ; Yao JIA
Chinese Journal of Comparative Medicine 2025;35(2):1-12
Objective To explore the mechanism of Jiawei Jisheng Shenqi Decoction in improving the hypoxic microenvironment and antagonizing liver cirrhosis.Methods In vivo experiments were conducted using a rat model of carbon tetrachloride(CCL4)-induced liver cirrhosis.Rats were divided into normal,model,colchicine,JWJSSQ low-dose,JWJSSQ medium-dose,and JWJSSQ high-dose group.Pathological changes in liver tissues in each group were examined by hematoxylin and eosin(HE)and Masson staining,changes in serum liver function were detected using test kits,levels of hyaluronic acid(HA),laminin(LN),procollagen Ⅲ(PC Ⅲ),and collagen typeⅣ(COL4)were detected by enzyme-linked immunosorbent assay(ELISA),and protein expression levels of hypoxia-inducible factor-1α(HIF-1α),Notch1,Jagged1,and α-smooth muscle actin(α-SMA)were detected by Western blot.In vitro experiments were conducted in HSC-T6 cells,and the optimal concentration of CoCl2(100 μ mol/L,200μmol/L,400 μmol/L,600 μmol/L and 800 μmol/L)in the cultured cells and the optimal concentration of drug-containing serum(5%,10%,15%,20%)were determined by Cell Counting Kit-8(CCK-8)assay.The migration ability of cells in each group was detected by scratch testing,and changes in the apoptosis rates were determined by flow cytometry.Protein expression levels of HIF-1α,Notch1,Jagged1,α-SMA,matrix metallopeptidase 9(MMP9),and tissue inhibitor of metalloproteinases 1(TIMP-1)were detected by Western blot.Results In the in vivo experiments,liver swelling,inflammatory cell infiltration,collagen deposition,and the appearance of pseudolobules were significantly increased in the model group compared with those in the normal group.Serum levels of alanine aminotransferase(ALT),aspartate aminotransferase(AST),HA,LN,PCⅢ,and COL4 were significantly increased and albumin(ALB)was significantly decreased in the model group,while liver levels of HIF-1α,Notch1,Jagged1,and α-SMA proteins were significantly increased(P<0.01).Liver swelling,inflammatory cell infiltration,and collagen deposition were significantly reduced in each treatment group compared with those in the model group,and the degree of fibrosis was reduced.Serum ALT,AST,HA,LN,PCⅢ,and COL4 were significantly decreased and ALB was significantly increased,while liver levels of HIF-1α,Notch1,Jagged1,and α-SMA proteins were also significantly decreased to varying degrees(P<0.05).In the in vitro experiments,hypoxia promoted HSC-T6 migration and reduced apoptosis,increased the protein expression levels of HIF-1α,Notch1,Jagged1,α-SMA,and TIMP-1,and reduced the expression levels of MMP9(P<0.01).Serum containing Jiawei Jisheng Shenqi Decoction inhibited HSC-T6 migration,promoted HSC-T6 apoptosis,lowered the expression of HIF-1α,Notch1,Jagged1,α-SMA,and TIMP-1 proteins,and enhanced the expression of MMP9 protein(P<0.01).The inhibitory effect of Jiawei Jisheng Shenqi on HSC-T6 cell activation was reversed by the HIF-1α agonist dimethyloxalylglycine.Conclusions Jiawei Jisheng Shenqi Decoction can improve the hypoxic microenvironment via the HIF-1α/Notch pathway,thereby exerting an anti-liver cirrhosis effect.
3.Management and practice of VIP Wards based on the"hospital-wide centralized bed management"model
Hongwei ZHANG ; Yueliang ZHOU ; Mingui LIU ; Xiaoling ZHANG
Modern Hospital 2025;25(8):1230-1233,1238
Objective To explore the application effect of the"Hospital-wide Centralized Bed Management"model in VIP wards,aiming to enhance medical service efficiency and patient experience through systematic resource integration and process optimization.Methods A VIP ward in a tertiary hospital in Southwest China was selected as the pilot site.From August 2024 to January 2025,a management model reform was implemented.Measures included the unified allocation of inpatient beds,construction of an information platform,establishment of interdisciplinary collaboration mechanisms,and optimization of medical staff responsibilities.Data on bed usage,service process indicators,and patient satisfaction were collected for three months before and after implementation.Statistical analysis was conducted using SPSS 26.0.Results After implementation,the bed utilization rate increased significantly from 20.0% to 55.0% (t=10.07,P<0.001).The waiting time for admission was reduced from(48.0±12.5)hours to(23.5±6.8)hours(a 51.0% reduction,t=9.84,P<0.001),and the bed transfer time decreased from(3.0±1.2)hours to(1.0±0.5)hours(a 66.7% reduction,t=7.62,P<0.001).Patient satisfaction scores regarding bed arrangement,medical staff collaboration,and overall service significantly improved(all P<0.001).After controlling for disease complexity,a strong positive correlation was found between bed utilization rate and overall satisfaction(r=0.68,P<0.01).Conclusion By overcoming inter-departmental resource barriers,this model achieves efficient resource allocation and precise service process optimization in VIP wards,offering a replicable innovative approach for managing high-end medical serv-ices.
4.Mediating effect of psychological capital between safety organization and work engagement among Operating Room nurses
Yongping SHI ; Bo ZHANG ; Xiaoling HAO ; Dubiao ZHOU
Chinese Journal of Modern Nursing 2025;31(27):3709-3714
Objective:To explore the direct effect of safety organization on work engagement of Operating Room nurses, as well as the mediating effect of psychological capital between safety organization and work engagement, so as to provide theoretical basis for developing intervention programs to enhance work engagement of Operating Room nurses.Methods:From October to December 2024, convenience sampling was used to select 260 Operating Room nurses from three ClassⅢ Grade A hospitals as research subjects. Psychological Capital Questionnaire, Safety Organizing Scale, and Work Engagement Scale were used to survey Operating Room nurses. AMOS 26.0 software was used to analyze the mediating effect of Operating Room nurses' psychological capital between safety organization and work engagement.Results:A total of 260 questionnaires were distributed and 241 valid questionnaires were recovered, with a valid recovery rate of 92.69%. Among 241 Operating Room nurses, the total scores of Work Engagement Scale, Psychological Capital Questionnaire, and Safety Organizing Scale were (37.35±7.30), (90.10±11.62), and (41.58±10.82), respectively. The total score and scores of each dimension of the Work Engagement Scale were positively correlated with the total score and scores of each dimension of the Psychological Capital Questionnaire and the total score of the Safe Organizing Scale ( P<0.05). The total score and scores of each dimension of the Psychological Capital Questionnaire were positively correlated with the total score of the Safe Organizing Scale ( P<0.05). Mediating effect analysis showed that the direct effect of safety organization on work engagement of Operating Room nurses was established, with an effect value of 0.266 ( P<0.05). Psychological capital played a partially mediating effect between safety organization and work engagement of, with an effect value of 0.275, and the mediating effect accounted for 50.83% of the total effect. Conclusions:Safety organization has a positive impact on work engagement of Operating Room nurses, and psychological capital partially mediates the effect between safety organization and work engagement of Operating Room nurses. Hospital nursing administrators should be aware of the importance of building a safety organization and pay attention to building the psychological capital of Operating Room nurses so as to improve work engagement.
5.Study on the mechanism of Jiawei Jisheng Shenqi Decoction regulating HIF-1α/Notch pathway to improve hypoxia and antagonize liver cirrhosis
Yiling MO ; Xiaoling ZHOU ; Lin LIU ; Dongqi SUN ; Teng WU ; Yi LUO ; Bowen RUAN ; Yueming WANG ; Yao JIA
Chinese Journal of Comparative Medicine 2025;35(2):1-12
Objective To explore the mechanism of Jiawei Jisheng Shenqi Decoction in improving the hypoxic microenvironment and antagonizing liver cirrhosis.Methods In vivo experiments were conducted using a rat model of carbon tetrachloride(CCL4)-induced liver cirrhosis.Rats were divided into normal,model,colchicine,JWJSSQ low-dose,JWJSSQ medium-dose,and JWJSSQ high-dose group.Pathological changes in liver tissues in each group were examined by hematoxylin and eosin(HE)and Masson staining,changes in serum liver function were detected using test kits,levels of hyaluronic acid(HA),laminin(LN),procollagen Ⅲ(PC Ⅲ),and collagen typeⅣ(COL4)were detected by enzyme-linked immunosorbent assay(ELISA),and protein expression levels of hypoxia-inducible factor-1α(HIF-1α),Notch1,Jagged1,and α-smooth muscle actin(α-SMA)were detected by Western blot.In vitro experiments were conducted in HSC-T6 cells,and the optimal concentration of CoCl2(100 μ mol/L,200μmol/L,400 μmol/L,600 μmol/L and 800 μmol/L)in the cultured cells and the optimal concentration of drug-containing serum(5%,10%,15%,20%)were determined by Cell Counting Kit-8(CCK-8)assay.The migration ability of cells in each group was detected by scratch testing,and changes in the apoptosis rates were determined by flow cytometry.Protein expression levels of HIF-1α,Notch1,Jagged1,α-SMA,matrix metallopeptidase 9(MMP9),and tissue inhibitor of metalloproteinases 1(TIMP-1)were detected by Western blot.Results In the in vivo experiments,liver swelling,inflammatory cell infiltration,collagen deposition,and the appearance of pseudolobules were significantly increased in the model group compared with those in the normal group.Serum levels of alanine aminotransferase(ALT),aspartate aminotransferase(AST),HA,LN,PCⅢ,and COL4 were significantly increased and albumin(ALB)was significantly decreased in the model group,while liver levels of HIF-1α,Notch1,Jagged1,and α-SMA proteins were significantly increased(P<0.01).Liver swelling,inflammatory cell infiltration,and collagen deposition were significantly reduced in each treatment group compared with those in the model group,and the degree of fibrosis was reduced.Serum ALT,AST,HA,LN,PCⅢ,and COL4 were significantly decreased and ALB was significantly increased,while liver levels of HIF-1α,Notch1,Jagged1,and α-SMA proteins were also significantly decreased to varying degrees(P<0.05).In the in vitro experiments,hypoxia promoted HSC-T6 migration and reduced apoptosis,increased the protein expression levels of HIF-1α,Notch1,Jagged1,α-SMA,and TIMP-1,and reduced the expression levels of MMP9(P<0.01).Serum containing Jiawei Jisheng Shenqi Decoction inhibited HSC-T6 migration,promoted HSC-T6 apoptosis,lowered the expression of HIF-1α,Notch1,Jagged1,α-SMA,and TIMP-1 proteins,and enhanced the expression of MMP9 protein(P<0.01).The inhibitory effect of Jiawei Jisheng Shenqi on HSC-T6 cell activation was reversed by the HIF-1α agonist dimethyloxalylglycine.Conclusions Jiawei Jisheng Shenqi Decoction can improve the hypoxic microenvironment via the HIF-1α/Notch pathway,thereby exerting an anti-liver cirrhosis effect.
6.Analysis of differences on contraindication information for children in domestic and foreign drug instructions
Pengxiang ZHOU ; Xinwen XU ; Xiaoling WANG ; Ruiling ZHAO ; Zhigang ZHAO
Adverse Drug Reactions Journal 2025;27(6):339-347
Objective:To explore the differences on contraindication information for children in domestic and foreign drug instructions, and provide reference for improving the relevant information in Chinese drug insert sheets.Methods:Chinese drug insert sheets of chemicals and biological products contained in the China Pharmacopoeia 2020 and those of the western medicines in the 2023 China′s Basic Medical Insurance, Work-related Injury Insurance and Childbirth Insurance Drug Catalog were collected; drugs that were marked as contraindication for children were selected and relevant contraindication information in the Chinese drug insert sheets was collected. Instructions of the above-mentioned drugs approved by the U.S. Food and Drug Administration (English labels) were also collected, and the information on pediatric medication was reviewed and compared with the Chinese drug insert sheets. Results:A total of 222 drugs were labeled as contraindication for children in the Chinese drug insert sheets, of which 149 were available for their English labels; 123 drugs (17.5%) were not labeled as contraindication for children in English labels, and 26 (82.5%) were labeled. The 123 drugs that were not labeled as contraindication for children in the English labels included the following conditions: 58 were labeled as contraindication for children of some age in the Chinese drug insert sheets but not in the English labels, and relevant medication information was provided; 40 were labeled as contraindication for children of some age group in the Chinese drug insert sheets but was described as the effectiveness and safety of the use for children have not yet been determined for this age group in the English labels; 13 were labeled as contraindication for children in the Chinese drug insert sheets, but the medication information on children in the English labels was not clear or missing; 12 were labeled as contraindicated for children in Chinese drug insert sheets but not in the English labels, only expressed as not yet determined or not recommended for use, etc., with inconsistent age group. Among the 26 drugs labeled as contraindication for children in both Chinese and English instructions, the contraindication age group were the same in above 2 instructions for 20 drugs, and were inconsistent for the other 6 drugs; reasons for contraindication were described in both the 2 instructions for 17 drugs (13 were consistent, 4 were inconsistent), only in English labels for 8 drugs, and only in Chinese drug insert sheets for 1 drug.Conclusions:Many drugs are labeled as contraindication for children in Chinese drug insert sheets, but reasons for contraindication are rarely explained. Differences in children′s age in contraindications exist for some drugs between the Chinese drug insert sheets and English labels. The information on contraindications for children in Chinese drug insert sheets still needs to be further improved.
7.Preparation of nano BaTiO 3@Au Schottky junction coatings on titanium implant and the influence on osteogenic properties of rat bone marrow stem cells
Xiaoling GUO ; Danhe SUN ; Luying LI ; Linfeng ZHONG ; Xiaoyan WANG ; Quan ZHOU ; Lingzhou ZHAO
Chinese Journal of Stomatology 2025;60(11):1264-1273
Objective:To prepare a nano-barium titanate@gold Schottky junction (nano-BaTiO 3@Au) coating and investigate its effects on the adhesion, proliferation, and osteogenic differentiation of bone marrow stem cells (BMSCs), aiming to explore a titanium surface modification strategy with superior osteogenic activity. Methods:Pure titanium specimens served as the control group (Ti group). Titanium dioxide coatings were prepared on their surfaces via anodic oxidation. Nano-barium titanate (nBTO group) was further synthesized using the hydrothermal method. Gold nanoparticles were grown in situ on the nano-BaTiO 3 via high-temperature reduction of chloroauric acid using sodium citrate, yielding the nano-barium titanate@gold Schottky junction coating (nBTO@Au group). Surface morphology was observed by scanning electron microscopy (SEM). Elemental composition was analyzed using X-ray energy dispersive spectrum (EDS) and X-ray photoelectron spectroscopy (XPS). Crystal structure was analyzed using X-ray diffraction (XRD) and Raman spectroscopy. Hydrophilicity was assessed via water contact angle measurement. Specimens were co-cultured with BMSCs to evaluate biocompatibility and osteogenic properties. Cell proliferation on days 1, 3, 5, and 7 was assessed using the cell counting kit-8 (CCK-8) assay. Cytotoxicity towards BMSCs was assessed using live/dead cell staining. Cell morphology and adhesion were observed using cytoskeleton staining. Alkaline phosphatase (ALP) expression in BMSCs after 7 days was quantified using an ALP activity assay and ALP staining. Extracellular matrix mineralization after 7 days was evaluated using alizarin red staining and quantification assay. Each experiment was performed using three specimens per group. Results:Scanning electron microscopy revealed that gold nanoparticles with the diameter of(14.838±0.718) nm, uniform in size and homogeneously distributed, were successfully grown in situ on the surface of the nBTO coating. EDS and XPS confirmed the presence of Ba, Ti, O, and Au elements in the nBTO@Au composite coating. XRD and Raman spectroscopy analysis indicated that the nanostructured barium titanate (nBTO) coating was synthesized via a hydrothermal method.Water contact angle measurements showed that the contact angle was 66.8°± 0.45° for the control group, 22.55°±0.42° for the nBTO group, and 26.78°±1.15° for the nBTO@Au group, indicating good hydrophilicity of both nBTO and nBTO@Au coatings. On day 1 and day 3 of culture, the cell proliferation in the nBTO group was significantly lower than that in the control group ( P<0.05). In contrast, no significant differences were observed between the nBTO@Au group and either the control group or the nBTO group (all P>0.05). By day 5, the cell proliferation of nBTO@Au groups was significantly lower than that of the control group ( P<0.05), and the cell proliferation of nBTO group was significantly lower than that of the control group and that of the nBTO@Au group ( P<0.05). By day 7, there were no statistically significant differences in cell proliferation among all experimental groups ( F=1.62, P>0.05).Live/dead cell staining demonstrated that the cell survival rate exceeded 90% in all groups, with normal morphology and few dead cells, indicating good biocompatibility of the nBTO@Au coating. Compared to the control group, both nBTO and nBTO@Au groups promoted cell adhesion and spreading, although no significant difference in cell morphology was noted between the two modified groups. ALP staining revealed a larger stained area and deeper coloration in the nBTO@Au group. Quantitative results showed that ALP activity in the nBTO@Au group was significantly higher than that in both the nBTO and control groups ( P<0.05), and the nBTO group also exhibited significantly higher activity than the control group( P<0.05). Alizarin red staining indicated the deepest coloration in the nBTO@Au group, followed by the nBTO group, and the lightest in the control group. Quantitative analysis further confirmed that the amount of calcium nodule deposition in the nBTO@Au group was significantly greater than that in the other two groups ( P<0.05), and the nBTO group also showed significantly more deposition than the control group( P<0.05). Conclusions:This study successfully prepared an nBTO@Au coating possessing good biocompatibility and enhanced osteogenic properties.
8.Development of a prehabilitation program for patients undergoing cervical spondylosis surgery
Xu DENG ; Xiaoling ZHOU ; Qianqian SUN
Chinese Journal of Modern Nursing 2025;31(11):1457-1463
Objective:To develop a prehabilitation program for patients undergoing cervical spondylosis surgery, optimize preoperative management, and provide guidance for specialized clinical nursing.Methods:In March 2024, a prehabilitation team was established to extract the best available evidence on preoperative rehabilitation for cervical spondylosis through a literature review. After group discussions, an initial draft of the prehabilitation program was developed. Between April and May 2024, 20 experts were selected for a two-round Delphi consultation to finalize the program content. Expert engagement was measured by questionnaire response rates, while expert authority was evaluated using an authority coefficient. The degree of consensus among experts was assessed using Kendall's coefficient of concordance and the coefficient of variation.Results:The response rate for both rounds of expert consultation was 100.00% (20/20), with an authority coefficient of 0.93. In the first round, the coefficient of variation ranged from 0.06 to 0.20, and Kendall's coefficient of concordance was 0.121 ( P<0.01). In the second round, the coefficient of variation ranged from 0 to 0.16, and Kendall's coefficient of concordance was 0.108 ( P<0.01). The final prehabilitation program consisted of five primary categories (exercise intervention, nutrition support, psychological intervention, pain management, and thrombosis prevention), 15 secondary categories, and 31 tertiary categories. Conclusions:The prehabilitation program developed in this study demonstrates strong scientific validity and feasibility. It provides a theoretical framework and practical guidance for implementing preoperative prehabilitation for patients undergoing cervical spondylosis surgery.
9.Management and practice of VIP Wards based on the"hospital-wide centralized bed management"model
Hongwei ZHANG ; Yueliang ZHOU ; Mingui LIU ; Xiaoling ZHANG
Modern Hospital 2025;25(8):1230-1233,1238
Objective To explore the application effect of the"Hospital-wide Centralized Bed Management"model in VIP wards,aiming to enhance medical service efficiency and patient experience through systematic resource integration and process optimization.Methods A VIP ward in a tertiary hospital in Southwest China was selected as the pilot site.From August 2024 to January 2025,a management model reform was implemented.Measures included the unified allocation of inpatient beds,construction of an information platform,establishment of interdisciplinary collaboration mechanisms,and optimization of medical staff responsibilities.Data on bed usage,service process indicators,and patient satisfaction were collected for three months before and after implementation.Statistical analysis was conducted using SPSS 26.0.Results After implementation,the bed utilization rate increased significantly from 20.0% to 55.0% (t=10.07,P<0.001).The waiting time for admission was reduced from(48.0±12.5)hours to(23.5±6.8)hours(a 51.0% reduction,t=9.84,P<0.001),and the bed transfer time decreased from(3.0±1.2)hours to(1.0±0.5)hours(a 66.7% reduction,t=7.62,P<0.001).Patient satisfaction scores regarding bed arrangement,medical staff collaboration,and overall service significantly improved(all P<0.001).After controlling for disease complexity,a strong positive correlation was found between bed utilization rate and overall satisfaction(r=0.68,P<0.01).Conclusion By overcoming inter-departmental resource barriers,this model achieves efficient resource allocation and precise service process optimization in VIP wards,offering a replicable innovative approach for managing high-end medical serv-ices.
10.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.

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