1.Construction of a community-family management model for older adults with mild cognitive impairment
Junli CHEN ; Han ZHANG ; Yefan ZHANG ; Yanqiu ZHANG ; Runguo GAO ; Qianqian GAO ; Weiqin CAI ; Haiyan LI ; Lihong JI ; Zhiwei DONG ; Qi JING
Chinese Journal of Rehabilitation Theory and Practice 2026;32(1):90-100
ObjectiveTo develop a community-family management model for older adults with mild cognitive impairment (MCI) and to formulate detailed application specifications, and to fully leverage the initiative of communities and families under limited resource conditions, for achieving community-based early detection and early intervention for older adults with MCI. MethodsA systematic literature review was conducted to identify pertinent publications. Corpus-based research methodologies were employed to extract, refine, integrate and synthesize management elements, thereby establishing the specific content and service processes for each stage of the management model. Utilizing the 5W2H analytical framework, essential elements such as management stakeholders, target populations, content and methods for each stage were delineated. The model and its application guidelines were finalized through expert consultation and demonstration. ResultsAn expert evaluation of the management model yielded mean scores of 4.84, 4.32 and 4.84 for acceptability, feasibility and systematicity, respectively. By integrating the identified core elements with expert ratings and feedback, the final iteration of the community-family management model for older adults with MCI was formulated. This model comprised of five stages: screening and identification, comprehensive assessment, intervention planning, monitoring and referral pathways to ensure implementation, and enhanced support for communities, family members and caregivers. Additionally, it included 18 specific application guidelines. ConclusionThe proposed management model may theoretically help delay cognitive decline, improve cognitive function and potentially promote reversal from MCI to normal cognition. It may also enhance the awareness and coping capacity of older adults and their families, strengthen community healthcare professionals' ability to early identify and manage MCI.
2.Influencing Factors of Urate Crystal Deposition in Patients with Hyperuricemia and Prediction Model of TCM Syndrome Types-inflammatory Indicators
Jiaqi XU ; Bin AI ; Chao LIN ; Qiaoxuan LIN ; Changning LI ; Jing CAI ; Yan XIAO ; Jiemei GUO ; Youxin SU
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(7):66-73
ObjectiveTo identify potential influencing factors of urate crystal deposition at ankle/foot in patients with hyperuricemia (HUA), and to analyze the predictive value of inflammatory indicators for urate crystal deposition in patients with different traditional Chinese medicine (TCM) syndromes, so as to provide potential reference for clinical risk assessment and individualized TCM intervention. MethodsA retrospective study was carried out with the enrollment of 231 HUA patients from The Third Affiliated People's Hospital of Fujian University of Traditional Chinese Medicine between January 2021 and December 2024. The enrolled patients were further divided into a crystal deposition-positive group (143 cases) and a crystal deposition-negative group (88 cases) according to the results of dual-energy computed tomography (CT). Sociodemographic data, living habits, serum uric acid levels, and inflammatory indicators of the enrolled patients were collcted, and TCM syndrome differentiation was performed. Furthermore, univariate analysis was used to compare inter-group differences in clinical characteristics. MMultivariate Logistic regression was applied to identify the influencing factors of urate crystal deposition. In addition, the receiver operating characteristic (ROC) curves were plotted to evaluate the predictive efficacy of inflammatory indicators for crystal deposition across different TCM syndromes. ResultsThere were statistically significant inter-group differences in the proportion of males, age, body mass index, proportion of mental labor, rate of low water intake, and rate of high-sugar beverage consumption (P<0.05),whereas no significant difference in low exercise intensity was found between the two groups. Furthermore, compared with the negative group, the positive group had higher serum uric acid level, neutrophil-to-lymphocyte ratio (NLR), and platelet-to-lymphocyte ratio (PLR), but lower systemic immune-inflammation index (SIRI) (P<0.05). Regarding the distribution of TCM syndromes, the positive group was dominated by the dampness-heat accumulation syndrome (55/143,38.46%), while the negative group was mainly characterized by the phlegm-turbidity obstruction syndrome (44/88,50.00%). Multivariate Logistic regression analysis revealed that high-sugar beverage consumption, elevated NLR, and elevated PLR were risk factors for urate crystal deposition [odd ratio (OR) = 8.002, 5.377, 1.034, respectively; 95% CI 1.572-40.732, 2.179-13.270, 1.013-1.054,all P<0.05], while SIRI was a protective factor (OR = 0.869, 95% CI 0.778-0.971, P<0.05). In the positive group, patients with the dampness-heat accumulation syndrome exhibited the highest NLR, while the lowest PLR and SIRI, showing statistically significant differences with those of other syndromes (all P<0.05). In addition, ROC curve analysis indicated that for the dampness-heat accumulation syndrome, the combined "NLR + PLR" model had an area under the curve (AUC) of 0.901 (95% CI 0.850-0.951, P<0.01), with a sensitivity of 89.1% and a specificity of 79.5%; for the blood stasis-heat obstruction syndrome, the combined "NLR + PLR" model had an AUC of 0.880 (95% CI 0.825-0.934, P<0.01), with a sensitivity of 100.0% and a specificity of 67.3%; for the liver-kidney Yin-deficiency syndrome, the single PLR model had an AUC of 0.842 (95% CI 0.731-0.952, P<0.01), with a sensitivity of 83.3% and a specificity of 84.0%. ConclusionUrate crystal deposition in HUA patients exhibits intimate associations with high-sugar beverage consumption as well as elevated NLR and PLR levels. Meanwhile, TCM syndrome differentiation has potential correlation with inflammatory characteristics. The inflammatory indicator-based prediction model constructed based on TCM syndromes exhibits good predictive value.
3.Mechanism of Shengmai Injection Against Cerebral Ischemia Based on Proteomics
Jingtong LIU ; Shaowei HU ; Mengli CHANG ; Jing XU ; Qingqing CAI ; Xinghong LI ; Liying TANG ; Huanhuan WANG ; Hongwei WU
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(9):57-67
ObjectiveTo evaluate pharmacological effects of Shengmai injection(SMI)on cerebral ischemia and study its neuroprotective mechanism. MethodsMale specific pathogen-free (SPF) Sprague-Dawley (SD) rats were randomly divided into a sham group, a model group, a low-dose SMI group(3 mL·kg-1), a middle-dose SMI group(6 mL·kg-1), a high-dose SMI group(12 mL·kg-1), and a Ginaton group(4 mL·kg-1)according to the random number table method, with 12 rats in each group. The rat model of cerebral ischemia-reperfusion(MCAO/R)was prepared via the suture method. The administration groups were intraperitoneally injected with corresponding concentrations of SMI or Ginaton injection after reperfusion, which was conducted for 3 consecutive days. The sham group and model group were administered the equivalent volume of physiological saline. The pharmacological effects of SMI on brain injury in MCAO/R rats were evaluated by neurological function scores, cerebral infarction area, hematoxylin-eosin (HE) staining, Nissl staining, terminal deoxynucleotidyl transferase dUTP nick-end labeling (TUNEL) staining, and Western blot. The dominant link and key protein of SMI treating cerebral injury were explored using proteomic analysis. The related mechanisms of SMI were further validated using enzyme-linked immunosorbent assay (ELISA), Western blot, and chloride ion fluorescence probe with oxygen-glucose deprivation/reoxygenation(OGD/R)-treated PC12 cells and MCAO/R rats. ResultsCompared with the sham group, the model group showed significantly increased neurological function scores, cerebral infarction area, neuronal apoptosis rate, and expression levels of apoptosis related proteins (P<0.05, P<0.01)and significantly decreased density of Nissl bodies and neurons(P<0.01). Compared with the model group, the SMI groups exhibited significantly decreased neurological function scores, cerebral infarction area, neuronal apoptosis rate, and expression levels of apoptosis related proteins (P<0.05, P<0.01)and significantly increased density of Nissl bodies and neurons (P<0.05). The proteomic analysis results showed that oxidative stress and inflammatory response were important processes of SMI intervening in MCAO/R injury, and the chloride intracellular channel protein 1 (CLIC1) was one of key proteins in its action network. The levels of representative indicators of oxidative stress and inflammatory response in the MCAO/R rats of the SMI groups were significantly reduced, compared with those in the model group(P<0.05, P<0.01), and the expression levels of CLIC1 and downstream NOD-like receptor protein 3 (NLRP3) decreased (P<0.01). In addition, the experimental results based on the OGD/R PC12 cells showed that SMI significantly increased the cell survival rate(P<0.01) and significantly decreased the intracellular chloride ion concentration(P<0.05). ConclusionSMI has neuroprotective effects. Oxidative stress and inflammatory response are key processes of SMI intervening in MCAO/R injury. The potential mechanism is closely related to the regulation of CLIC1.
4.Management status and influencing factors of disease stabilization in patients with severe mental disorders in Luzhou City, Sichuan Province
Xuemei ZHANG ; Bo LI ; Benjing CAI ; Youguo TAN ; Bo XIANG ; Jing HE ; Qidong JIANG ; Jian TANG
Sichuan Mental Health 2025;38(2):131-137
BackgroundSevere mental disorders represent a major public health concern due to the high disability rates and substantial disease burden, which has garnered significant national attention and prompted their inclusion in public health project management systems. However, credible evidence regarding the current status of disease management and factors influencing disease stabilization among patients with severe mental disorders in Luzhou City, Sichuan Province, remains limited. ObjectiveTo investigate the current management status of patients with severe mental disorders in Luzhou City, Sichuan Province, and to analyze influencing factors of disease stabilization among patients under standardized care, so as to provide evidence-based insights for developing targeted management strategies to optimize clinical interventions for this patient population. MethodsIn March 2023, data were extracted from the Sichuan Mental Health Service Comprehensive Management Platform for patients with severe mental disorders in Luzhou City who received management between December 2017 and December 2022. Information on mental health service utilization and clinical status changes was collected. Trend analysis was conducted to evaluate temporal changes in key management indicators for severe mental disorders in Luzhou City. Logistic regression analysis was employed to identify factors influencing the disease stabilization or fluctuation of these patients. ResultsThis study enrolled a total of 20 232 patients. In Luzhou City, the stabilization rate and standardized management rate of severe mental disorders were 94.89% and 79.36% in 2017, respectively, which increased to 95.33% and 96.92% by 2022. The regular medication adherence rate rose from 34.42% in 2018 to 86.81% in 2022. In 2022, the regular medication adherence rate was 71.80% for schizophrenia, 55.26% for paranoid psychosis, and 51.43% for schizoaffective disorder. Multivariate analysis identified the following protective factors for disease stabilization: age of 18~39 years (OR=0.613, 95% CI: 0.409~0.918), age of 40~65 years (OR=0.615, 95% CI: 0.407~0.931), urban residence (OR=0.587, 95% CI: 0.478~0.720), and regular medication adherence (OR=0.826, 95% CI: 0.702~0.973). Risk factors for disease fluctuation included poor (OR=1.712, 95% CI: 1.436~2.040), non-inclusion in care-support programs (OR=1.928, 95% CI: 1.694~2.193), non-participation in community rehabilitation (OR=2.255, 95% CI: 1.930~2.634), and intermittent medication adherence (OR=3.893, 95% CI: 2.548~5.946). ConclusionThe stability rate, standardized management rate, and regular medication adherence rate of patients with severe mental disorders in Luzhou City have shown a year-by-year increase. Age, household registration status, economic condition, medication compliance, and community-based rehabilitation were identified as influencing factors for disease fluctuation in these patients. [Funded by Luzhou Science and Technology Plan Project (number, 2022-ZRK-186)]
5.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.
6.Health Economic Analysis of Central Line-associated Bloodstream Infections in Critically Ill Patients in Intensive Care Unit
Li CAI ; Xiaomin FENG ; Jing HUANG ; Huichao CHEN ; Jian LI ; Honglian OUYANG
Journal of Sun Yat-sen University(Medical Sciences) 2025;46(2):301-310
ObjectiveTo explore the incremental cost of central line-associated bloodstream infections (CLABSI) after central venous catheterization (CVC) in critically ill patients in the intensive care unit (ICU), as well as the main cost of nosocomial infection prevention and control. By comparing these two costs, the medical personnel to pay more attention should CLABSI prevention and control from the perspectives of medical quality and economic benefits, and promote the implementation of prevention and control measures. MethodsCluster sampling was used to select 126 critically ill patients who underwent CVC in the ICU of a tertiary traditional Chinese medicine hospital from January 2021 to December 2023, including 65 cases in the CLABSI group and 61 in the non-CLABSI group. Patients’ data were retrospectively collected from the hospital medical records, including the disease type, gender, age, length of hospital stay, outcome, and hospitalization expenses. The costs of different hand hygiene methods and differing approaches to environmental cleaning and disinfection were analyzed and compared. ResultsThere were significant differences in the length of hospital stay (Z=-5.35, P<0.05) and total hospitalization expenses (Z=-6.79, P<0.05) between the CLABSI and non-CLABSI group. Total hospitalization expenses showed significant differences among patients with different lengths of hospital stay (H=43.01, P<0.05), with much higher median one in those with 60 or more days of hospital stay than other patients. Greater differences of median total hospitalization expenses were found in males than in females (Z=-3.98, P<0.05), as well as in patients aged 60-80 years than in patients of other ages (Z=-5.79, P<0.05). ConclusionsThe occurrence of CLABSI significantly increases the ICU patients’ length of hospital stay and hospitalization expenses. There are differences in the costs of different hand hygiene methods and differing approaches to environmental cleaning and disinfection, but these costs are acceptable compared to the incremental costs directly attributable to CLABSI. Therefore, medical institutions should attach importance to the investment in prevention and control of nosocomial infections such as hand hygiene and environmental cleaning and disinfection, formulate practical, reasonable and feasible plans, and ensure their implementation, in order to avoid nosocomial infections, improve the medical quality, effectively control patients’ length of hospital stay and hospitalization costs, and strive to maintain patient safety.
7.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.
8.Electroacupuncture reduced airway inflammation by activating somatosensory-sympathetic pathways in allergic asthmatic rats.
Hongli MA ; Xiaowen LIU ; Huamei CAI ; Yun YAN ; Weixia LI ; Jing ZHAO
Chinese Medical Journal 2025;138(6):702-712
BACKGROUND:
Electroacupuncture (EA) treatment is efficacious in patients with respiratory disorders, although the mechanisms of its action in lung-function protection are poorly understood. This study aimed to explore the neuroanatomical mechanisms of EA stimulation at the BL13 acupoint (Feishu, EA-BL13) improvement in asthma.
METHODS:
Allergic asthma was induced by intranasal 2.0% ovalbumin (OVA) instillation combined with intraperitoneal injection of the 10.0% OVA. The levels of interleukin (IL)-4 and IL-5 were detected by enzyme-linked immunosorbent assay. Hematoxylin and eosin and periodic acid-schiff stain were used to evaluate inflammatory cell infiltration and mucus secretion. Cellular oncogene fos induction in neurons after EA stimulation was detected by immunofluorescent staining. The messenger RNA expression levels of adrenergic receptors were quantified with real-time polymerase chain reaction.
RESULTS:
EA improved airway inflammation and mucus secretion mainly by activating somatosensory-sympathetic pathways ( P <0.001). Briefly, the intermediolateral (IML) nuclei of the spinal cord received signals from somatic EA stimulation and then delivered the information via the sympathetic trunk to the lung. Excited sympathetic nerve endings in lung tissue released large amounts of catecholamines that specifically activated the β2 adrenergic receptor (β2AR) on T cells ( P <0.01) and further decreased the levels of IL-4 and IL-5 ( P <0.001) through the cyclic adenosine monophosphate/protein kinase A signaling pathway.
CONCLUSION
This study provided a new explanation and clinical basis for the use of EA-BL13 as a treatment for allergic asthma in both the attack and remission stages and other respiratory disorders related to airway inflammation.
Electroacupuncture/methods*
;
Animals
;
Asthma/immunology*
;
Rats
;
Rats, Sprague-Dawley
;
Male
;
Inflammation/therapy*
;
Interleukin-4/metabolism*
;
Interleukin-5/metabolism*
9.Percutaneous coronary intervention vs . medical therapy in patients on dialysis with coronary artery disease in China.
Enmin XIE ; Yaxin WU ; Zixiang YE ; Yong HE ; Hesong ZENG ; Jianfang LUO ; Mulei CHEN ; Wenyue PANG ; Yanmin XU ; Chuanyu GAO ; Xiaogang GUO ; Lin CAI ; Qingwei JI ; Yining YANG ; Di WU ; Yiqiang YUAN ; Jing WAN ; Yuliang MA ; Jun ZHANG ; Zhimin DU ; Qing YANG ; Jinsong CHENG ; Chunhua DING ; Xiang MA ; Chunlin YIN ; Zeyuan FAN ; Qiang TANG ; Yue LI ; Lihua SUN ; Chengzhi LU ; Jufang CHI ; Zhuhua YAO ; Yanxiang GAO ; Changan YU ; Jingyi REN ; Jingang ZHENG
Chinese Medical Journal 2025;138(3):301-310
BACKGROUND:
The available evidence regarding the benefits of percutaneous coronary intervention (PCI) on patients receiving dialysis with coronary artery disease (CAD) is limited and inconsistent. This study aimed to evaluate the association between PCI and clinical outcomes as compared with medical therapy alone in patients undergoing dialysis with CAD in China.
METHODS:
This multicenter, retrospective study was conducted in 30 tertiary medical centers across 12 provinces in China from January 2015 to June 2021 to include patients on dialysis with CAD. The primary outcome was major adverse cardiovascular events (MACE), defined as a composite of cardiovascular death, non-fatal myocardial infarction, and non-fatal stroke. Secondary outcomes included all-cause death, the individual components of MACE, and Bleeding Academic Research Consortium criteria types 2, 3, or 5 bleeding. Multivariable Cox proportional hazard models were used to assess the association between PCI and outcomes. Inverse probability of treatment weighting (IPTW) and propensity score matching (PSM) were performed to account for potential between-group differences.
RESULTS:
Of the 1146 patients on dialysis with significant CAD, 821 (71.6%) underwent PCI. After a median follow-up of 23.0 months, PCI was associated with a 43.0% significantly lower risk for MACE (33.9% [ n = 278] vs . 43.7% [ n = 142]; adjusted hazards ratio 0.57, 95% confidence interval 0.45-0.71), along with a slightly increased risk for bleeding outcomes that did not reach statistical significance (11.1% vs . 8.3%; adjusted hazards ratio 1.31, 95% confidence interval, 0.82-2.11). Furthermore, PCI was associated with a significant reduction in all-cause and cardiovascular mortalities. Subgroup analysis did not modify the association of PCI with patient outcomes. These primary findings were consistent across IPTW, PSM, and competing risk analyses.
CONCLUSION
This study indicated that PCI in patients on dialysis with CAD was significantly associated with lower MACE and mortality when comparing with those with medical therapy alone, albeit with a slightly increased risk for bleeding events that did not reach statistical significance.
Humans
;
Percutaneous Coronary Intervention/methods*
;
Male
;
Female
;
Coronary Artery Disease/drug therapy*
;
Retrospective Studies
;
Renal Dialysis/methods*
;
Middle Aged
;
Aged
;
China
;
Proportional Hazards Models
;
Treatment Outcome
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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