1.Herbal Textual Research on Piperis Longi Fructus in Famous Classical Formulas
Haihua WANG ; Xiaoqi JING ; Juan LI ; Dabang REN ; Fusheng ZHANG ; Zhilai ZHAN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(8):210-219
This article systematically analyzes the historical evolution of the name, origin, medicinal parts, producing area, harvesting and processing, nature, flavor and efficacy of Piperis Longi Fructus by referring to the materia medica, medical books, and prescription books of past dynasties, combined with the relevant modern literature, in order to provide a basis for the development and utilization of famous classical formulas containing this herb. According to the herbal textual research, the name of Piper longum first appeared in Nanfang Caomuzhuang, and it also has other aliases such as Biboli, Halou, and Hujiaohua. Historically, the origin of Piperis Longi Fructus has been P. longum of the Piperaceae family. In ancient times, both the fruit and root were used as medicine, and since the Republic of China, the fruit has been mainly used as medicine. The medicinal part is the dried, nearly ripe or ripe fruit spikes. Piperis Longi Fructus is native to India and has been introduced into China since the Tang dynasty. In the Ming dynasty, Bencao Pinhui Jingyao clearly stated that the genuine producing area was "Duanzhou", present-day Zhaoqing in Guangdong province. Nowadays, it is planted in Guangdong, Guangxi, Hainan, Yunnan and other regions. Historically and currently, harvesting occurs in autumn. The ancient processing method uniformly involved removing the stems, soaking in the sourest vinegar overnight, baking, and scraping off the peels and grains with a knife until clean. In modern times, impurities are removed, and it is dried in the sun and crushed when used. The properties, functions and applications of P. longum are basically the same in ancient and modern times. It tastes pungent, is warm in nature, and non-toxic. It has the effects of warming the middle-jiao to dispel cold, lowering Qi and relieving pain, and is used for cold pain in the epigastrium and abdomen, vomiting, diarrhea, chest pain, headache, and toothache. Based on the research results, it is recommended that when developing famous classical formulas containing Piperis Longi Fructus, the dried nearly ripe or ripe fruit spikes of P. longum should be used. If there are no clear processing requirements, it is recommended to use the raw products for medicinal use, and the specific processing methods can refer to the relevant requirements under Piperis Longi Fructus in the 2025 edition of the Pharmacopoeia of the People's Republic of China. If processing requirements such as soaking in vinegar and peeling are clearly specified, it is recommended to follow the ancient methods.
2.Herbal Textual Research on Piperis Longi Fructus in Famous Classical Formulas
Haihua WANG ; Xiaoqi JING ; Juan LI ; Dabang REN ; Fusheng ZHANG ; Zhilai ZHAN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(8):210-219
This article systematically analyzes the historical evolution of the name, origin, medicinal parts, producing area, harvesting and processing, nature, flavor and efficacy of Piperis Longi Fructus by referring to the materia medica, medical books, and prescription books of past dynasties, combined with the relevant modern literature, in order to provide a basis for the development and utilization of famous classical formulas containing this herb. According to the herbal textual research, the name of Piper longum first appeared in Nanfang Caomuzhuang, and it also has other aliases such as Biboli, Halou, and Hujiaohua. Historically, the origin of Piperis Longi Fructus has been P. longum of the Piperaceae family. In ancient times, both the fruit and root were used as medicine, and since the Republic of China, the fruit has been mainly used as medicine. The medicinal part is the dried, nearly ripe or ripe fruit spikes. Piperis Longi Fructus is native to India and has been introduced into China since the Tang dynasty. In the Ming dynasty, Bencao Pinhui Jingyao clearly stated that the genuine producing area was "Duanzhou", present-day Zhaoqing in Guangdong province. Nowadays, it is planted in Guangdong, Guangxi, Hainan, Yunnan and other regions. Historically and currently, harvesting occurs in autumn. The ancient processing method uniformly involved removing the stems, soaking in the sourest vinegar overnight, baking, and scraping off the peels and grains with a knife until clean. In modern times, impurities are removed, and it is dried in the sun and crushed when used. The properties, functions and applications of P. longum are basically the same in ancient and modern times. It tastes pungent, is warm in nature, and non-toxic. It has the effects of warming the middle-jiao to dispel cold, lowering Qi and relieving pain, and is used for cold pain in the epigastrium and abdomen, vomiting, diarrhea, chest pain, headache, and toothache. Based on the research results, it is recommended that when developing famous classical formulas containing Piperis Longi Fructus, the dried nearly ripe or ripe fruit spikes of P. longum should be used. If there are no clear processing requirements, it is recommended to use the raw products for medicinal use, and the specific processing methods can refer to the relevant requirements under Piperis Longi Fructus in the 2025 edition of the Pharmacopoeia of the People's Republic of China. If processing requirements such as soaking in vinegar and peeling are clearly specified, it is recommended to follow the ancient methods.
3.Spatiotemporal distribution characteristics of and trends in disease burden of dengue fever in China from 2005 to 2024
Lianfang FENG ; Meng SHANG ; Jiarong REN ; Xiaoxu WANG ; Haoqiang JI ; Xinning HAO ; Jing LI ; Qiyong LIU
Chinese Journal of Schistosomiasis Control 2026;38(2):137-147
Objective To analyze the spatiotemporal distribution characteristics of and trends in the disease burden of dengue fever in China from 2005 to 2024, so as to provide insights into formulation of dengue fever control strategies. Methods Data pertaining to dengue fever cases in China from 2005 to 2024 were retrieved from the Infectious Disease Reporting Information System of Chinese Center for Disease Control and Prevention, and city population, gross domestic product (GDP), GDP per capita, and consumer price index in China were captured from the China Statistical Yearbook, National Bureau of Statistics of China, the China City Statistical Yearbook, and bureaus of statistics in each city. The disability-adjusted life years (DALYs), years of life lost (YLLs), and years lived with disability (YLDs) due to dengue fever were calculated in China from 2005 to 2024. The direct and indirect economic burdens of dengue fever were estimated to calculate the total economic burden. The trends in the disease burden of dengue fever were estimated in China from 2005 to 2024 using a Joinpoint regression model with the software Joinpoint 4.9.0.0, and the average annual percent change (AAPC) and its 95% confidence interval (CI) were calculated. In addition, the DALYs rate and economic burden of dengue fever in China were subjected to global and local spatial autocorrelation analyses using the software ArcGIS 10.8. Results The gross DALYs due to dengue fever were 5 558 person-years in China from 2005 to 2024, and the DALYs of dengue fever increased from 36 person-years in 2005 to 899 person-years in 2024, with an increase of 23.97 folds. The average annual DALYs rate of dengue fever was 0.02 person-years/105 in China during the 20-year study period from 2005 to 2024, and the DALYs rate peaked in 2014 (0.13 person-years/105) and reduced during the COVID-19 pandemic from 2020 to 2022. YLDs were the main contributor of DALYs due to dengue fever in China from 2005 to 2024, with a total of 5 354 person-years, accounting for 96.33% (5 354 person-years/5 558 person-years) of the gross DALYs. The gross DALYs of dengue fever were 2 982 person-years among men (53.66%) and 2 575 person-years among women (46.34%) in China from 2005 to 2024, and high DALYs of dengue fever were measured among residents at ages of 15 to 30 years (1 639 person-years), 30 to 45 years (1 857 person-years), and 45 to 60 years (1 204 person-years), respectively, accounting for 84.56% (4 700 person-years/5 558 person-years) of total DALYs due to dengue fever in China. The total economic burden of dengue fever was estimated to be 612 million Yuan in China from 2005 to 2024, with an average annual economic burden of 30.584 million Yuan. The economic burden of dengue fever increased from 196 000 Yuan in 2005 to 121 million Yuan in 2024 in China, with an increase of 616.35 folds, and the per capita economic burden increased from 3 322.21 Yuan in 2005 to 4 940.01 Yuan in 2024, with an increase of 48.70%. Dengue fever cases were reported in 274 cities (counties) across 31 provinces (autonomous regions, municipalities) in China from 2005 to 2024, with relatively higher DALYs in Guangdong Province and Yunnan Province. Spatial autocorrelation analysis revealed that the disease burden of dengue fever appeared positive aggregation in Chinese cities (counties) from 2005 to 2024 (global Moran’s I = 0.045, Z = 2.24, P < 0.05), with high-high clusters mainly concentrated in the Pearl River Delta region in Guangdong Province and Xishuangbanna Dai Autonomous Prefecture and Pu’er City in Yunnan Province, and the total economic burden (global Moran’s I = 0.032, Z = 9.55, P < 0.001), per capita economic burden (global Moran’s I = 0.208, Z = 27.34, P < 0.001), and the proportion of total economic burdens in GDP in 2024 (global Moran’s I = 0.017, Z = 5.91, P < 0.001) all presented positive aggregation, with relatively higher total economic burdens mainly concentrated in Guangdong Province and Yunnan Province. Joinpoint regression analysis showed that the gross DALYs rates of dengue fever appeared an overall tendency towards a rise in China from 2005 to 2024 (AAPC = 16.24%, P = 0.029), and the DALYs rate presented an overall tendency towards a rise among both men (AAPC = 14.75%, P = 0.028) and women (AAPC = 14.93%, P = 0.037) during the study period. The per capita direct economic burden appeared an overall tendency towards a rise among dengue fever patients in China from 2005 to 2024 (AAPC = 2.16%, P = 0.012); however, there was no significant difference in the trends in the per capita indirect economic burden (AAPC = 0.46%, P = 0.470). In addition, the DALYs rate of dengue fever appeared a tendency towards a rise in 84.67% (232/274) of cities (counties) in China from 2005 to 2024, and the per capita economic burden appeared a tendency towards a rise in 85.40% (234/274) of cities (counties), while the DALYs rate and per capita economic burden of dengue fever appeared a tendency towards a rise in 77.01% (211/274) of cities (counties). Conclusions The disease burden of dengue fever significantly increased in China from 2005 to 2024. It is recommended to reinforce integrated dengue fever control in high-risk areas and among high-risk populations, and to improve the surveillance of imported dengue fever cases and vector control.
4.Compatibility of commonly used intravenous drugs in ICU patients with severe pneumonia
Lei ZHANG ; Xiao LI ; Jing WANG ; Xiaokai REN ; Zhanjun DONG
China Pharmacy 2026;37(14):1886-1891
OBJECTIVE To quantitatively assess the compatibility risk of commonly used intravenous drugs in intensive care unit (ICU) patients with severe pneumonia, and provide a reference for reducing the incidence of adverse events caused by incompatibility. METHODS The PASS clinical pharmacy management system was used to retrospectively collect the data of patients diagnosed with “severe pneumonia” in the ICU of Hebei General Hospital from January 2023 to June 2025, and the commonly used intravenous drugs and medication frequency were extracted. Based on authoritative databases such as Micromedex and Stabilis as well as relevant literature, the compatibility data of commonly used intravenous drugs with 0.9% Sodium chloride injection and 5% Glucose injection were summarized. The theoretical and actual compatibility risk values were calculated using formulas, and high-risk drugs were screened and the compatibility query table was drawn. RESULTS A total of 158 ICU patients with severe pneumonia were treated with 89 intravenous drugs, and 24 drugs with high compatibility risk were identified. The drug with the highest theoretical compatibility risk value was Amphotericin B for injection (risk value 146), and the drug with the highest actual compatibility risk value was Propofol medium and long chain fat emulsion injection (risk value 8 740). Among the 24 high-risk drugs, six drugs, namely Esomeprazole sodium for injection, Ambroxol hydrochloride injection, Midazolam injection, Methylprednisolone sodium succinate for injection, Furosemide injection, and Cefoperazone sodium and sulbactam sodium for injection, simultaneously ranked among the top 15 in both theoretical and actual compatibility risk rankings. Among 650 pairwise compatibility combinations of the 24 drugs, 24.62% were compatible, 11.23% were incompatible, 6.77% had conflicting evidence, and 57.38% had missing evidence. CONCLUSIONS This study quantitatively analyzed the medication safety of commonly used intravenous drugs in ICU patients with severe pneumonia, identified 24 drugs with high compatibility risk, and established a compatibility query table for high-risk drugs, which helps reduce the risk of ICU compatibility adverse events.
5.Association mechanisms between the progression of metabolic dysfunction-associated fatty liver disease and multi-system comorbidities and integrated management strategies
Liping WANG ; Ya LI ; Yuebo REN ; Tingting HE ; Zhongxia WANG ; Liping YAN ; Simiao YU ; Jing JING ; Yongqiang SUN ; Aozhe ZHANG ; Xin WANG ; Xiaohe XIAO ; Yinying LU ; Ruilin WANG
Journal of Clinical Hepatology 2026;42(8):1933-1938
Metabolic dysfunction-associated fatty liver disease (MAFLD) has become the most common chronic liver disease worldwide. Its pathological process is centered on the “two-hit” theory, with gut-liver axis dysregulation running through the entire disease course from steatosis to liver cirrhosis and even hepatocellular carcinoma, and it forms an extensive cross-system regulatory mechanism with the metabolic, cardiovascular, renal, and psychological and nervous systems through multi-dimensional pathways such as the “gut-liver-brain axis”, the “liver-kidney axis”, and the “liver-heart axis”. Disease progression is not limited to the liver itself, and it also involves functional imbalance of multiple organ systems throughout the body. This article systematically elaborates on the association mechanism of “liver pathological progression-multi-axis regulation-comorbidity occurrence” in MAFLD, proposes synergistic management strategies integrating early screening based on risk stratification, targeted intervention, and multidisciplinary diagnosis and treatment, and analyzes the limitations of current research and future development directions, in order to provide a theoretical basis and practical guidance for precise diagnosis and treatment and individualized management of MAFLD.
6.Interpretation and Enlightenment of Expert Consensus on Clinical Application of Yifei Zhike Capsules
Wenye FENG ; Hongchun ZHANG ; Xuefeng YU ; Weiwei GUO ; Chengjun BAN ; Zhifei WANG ; Yuanyuan LI ; Yingjie ZHI ; Jing REN ; Xin CUI ; Yanming XIE
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(23):178-185
ObjectiveTo interpret the main contents of the Expert Consensus on Clinical Application of Yifei Zhike Capsules (hereinafter referred to as the Consensus), analyze its evidence basis, and explore future research directions, thus providing a reference for rational drug use in clinical practice. MethodsThe core contents of the Consensus are summarized. Focusing on clinical issues, this paper summarizes the recommendations and consensus suggestions in the Consensus and explains them from aspects such as indications, key advantages, usage and dosage, combined medication, contraindications, precautions, and safety. ResultsThe Consensus clearly states that Yifei Zhike capsules can be used for acute or chronic bronchitis, pulmonary tuberculosis and other respiratory system diseases. It for the first time proposes that the applicable TCM syndrome of Yifei Zhike capsules is Qi-Yin deficiency together with combined phlegm and stasis. For different diseases, the Consensus provides specific usage instructions, dosage, and treatment course recommendations, supplementing the contents not covered in the drug instructions. In terms of combined medication, the Consensus emphasizes the principle of using this drug in combination with standardized chemotherapy regimens or conventional Western medicines and the applicability for the treatment of pulmonary tuberculosis and moderate to severe acute or chronic bronchitis. In terms of safety, the Consensus proposes methods for identifying common adverse reactions, drug contraindications, and precautions based on a review of the existing data and preliminarily builds a risk management framework. However, the evidence on which the Consensus is based are mostly early studies, with small sample sizes, which result in the low evidence grades (mainly C and D) of some recommendations. ConclusionThe Consensus provides specific guidance for the clinical use of Yifei Zhike capsules. However, due to the limited quality of the existing research evidence, more high-quality clinical studies are needed in the future to further verify its efficacy, safety, and explore its broader application prospects.
7.Constructing a rat animal model of pelvic organ prolapse:a comparison of three modeling methods
Jing YANG ; Houmei WANG ; Yi WANG ; Min SONG ; Jie REN ; Lujun DAI ; Ziwen XIAO
Chinese Journal of Tissue Engineering Research 2026;30(4):864-872
BACKGROUND:Currently,there are many modeling methods for pelvic organ prolapse animal models,and the commonly used methods are vaginal balloon dilatation,oophorectomy and the combination of the two.There is no study comparing the three modeling methods in detail.OBJECTIVE:To construct and validate a rat animal model of pelvic organ prolapse using three different methods and to identify the advantages and disadvantages of various models.METHODS:Seventy-two 8-week SPF-grade female Sprague-Dawley rats were selected and randomly divided into four groups,namely,vaginal balloon dilatation group,ovariectomy group,ovariectomy combined with vaginal balloon dilatation group(the combined group),and the sham-operated group(no ovariectomy and no vaginal dilatation).The vaginal wall tissues of rats were collected at 4,8 and 12 weeks after the operation for hematoxylin-eosin staining,Masson staining,EVG staining and immunohistochemical staining of α-smooth muscle actin,Vimentin and matrix metalloproteinase 9 detection,and the pelvic floor muscle tissues were taken at 4,8 and 12 weeks after the operation for hematoxylin-eosin staining,Masson staining and EVG staining.RESULTS AND CONCLUSION:(1)Hematoxylin-eosi staining showed that there was no significant difference in the decrease of vaginal epithelial layer thickness in the vaginal balloon dilatation group compared with the sham-operated group,(P>0.05),while the thickness of the vaginal epithelial layer was significantly reduced in the ovariectomy group and the ovariectomy combined with vaginal balloon dilation group(P<0.001),and the reduction was more significant in the ovariectomy combined with vaginal balloon dilation group,remained stable at 8 weeks after surgery and lasted until 12 weeks.(2)The changes in the content of collagen fibers and elastic fibers in the vaginal wall stained by Masson and EVG staining were the same as the changes in the thickness of the vaginal epithelial layer stained by hematoxylin-eosin,and there were no changes in collagen fibers and elastic fibers in the pelvic floor muscle tissues of the treatment groups.(3)At 4,8 and 12 weeks after treatment,there was no significant difference in the expression levels of α-smooth muscle actin,Vimentin and matrix metalloproteinase 9 in the vaginal wall tissue of the balloon dilation group compared with the control group(P>0.05),whereas the expression levels of α-smooth muscle actin and Vimentin were significantly decreased in the ovariectomy group and ovariectomy combined with vaginal balloon dilation group(P<0.01)and the expression of matrix metalloproteinase 9 showed a significant increase(P<0.01),with a more pronounced increase in the ovariectomy combined with vaginal balloon dilation group,and the increase reached a stable state at 8 weeks after surgery and could persist up to 12 weeks.To conclude,vaginal balloon dilatation could not maintain the degeneration of pelvic organ prolapse formed by the vaginal wall for a long period,and both ovariectomy and the combined method can be used.Ovariectomy combined with vaginal balloon dilatation can significantly accelerate and aggravate the formation of typical histological features of pelvic organ prolapse in vaginal wall tissues,effectively shorten the experimental period,and improve the efficiency.These effects reach a stable state at 8 weeks after surgery and can be sustained up to 12 weeks,which is practical and convenient for the study of pelvic organ prolapse animal models.
8.Constructing a rat animal model of pelvic organ prolapse:a comparison of three modeling methods
Jing YANG ; Houmei WANG ; Yi WANG ; Min SONG ; Jie REN ; Lujun DAI ; Ziwen XIAO
Chinese Journal of Tissue Engineering Research 2026;30(4):864-872
BACKGROUND:Currently,there are many modeling methods for pelvic organ prolapse animal models,and the commonly used methods are vaginal balloon dilatation,oophorectomy and the combination of the two.There is no study comparing the three modeling methods in detail.OBJECTIVE:To construct and validate a rat animal model of pelvic organ prolapse using three different methods and to identify the advantages and disadvantages of various models.METHODS:Seventy-two 8-week SPF-grade female Sprague-Dawley rats were selected and randomly divided into four groups,namely,vaginal balloon dilatation group,ovariectomy group,ovariectomy combined with vaginal balloon dilatation group(the combined group),and the sham-operated group(no ovariectomy and no vaginal dilatation).The vaginal wall tissues of rats were collected at 4,8 and 12 weeks after the operation for hematoxylin-eosin staining,Masson staining,EVG staining and immunohistochemical staining of α-smooth muscle actin,Vimentin and matrix metalloproteinase 9 detection,and the pelvic floor muscle tissues were taken at 4,8 and 12 weeks after the operation for hematoxylin-eosin staining,Masson staining and EVG staining.RESULTS AND CONCLUSION:(1)Hematoxylin-eosi staining showed that there was no significant difference in the decrease of vaginal epithelial layer thickness in the vaginal balloon dilatation group compared with the sham-operated group,(P>0.05),while the thickness of the vaginal epithelial layer was significantly reduced in the ovariectomy group and the ovariectomy combined with vaginal balloon dilation group(P<0.001),and the reduction was more significant in the ovariectomy combined with vaginal balloon dilation group,remained stable at 8 weeks after surgery and lasted until 12 weeks.(2)The changes in the content of collagen fibers and elastic fibers in the vaginal wall stained by Masson and EVG staining were the same as the changes in the thickness of the vaginal epithelial layer stained by hematoxylin-eosin,and there were no changes in collagen fibers and elastic fibers in the pelvic floor muscle tissues of the treatment groups.(3)At 4,8 and 12 weeks after treatment,there was no significant difference in the expression levels of α-smooth muscle actin,Vimentin and matrix metalloproteinase 9 in the vaginal wall tissue of the balloon dilation group compared with the control group(P>0.05),whereas the expression levels of α-smooth muscle actin and Vimentin were significantly decreased in the ovariectomy group and ovariectomy combined with vaginal balloon dilation group(P<0.01)and the expression of matrix metalloproteinase 9 showed a significant increase(P<0.01),with a more pronounced increase in the ovariectomy combined with vaginal balloon dilation group,and the increase reached a stable state at 8 weeks after surgery and could persist up to 12 weeks.To conclude,vaginal balloon dilatation could not maintain the degeneration of pelvic organ prolapse formed by the vaginal wall for a long period,and both ovariectomy and the combined method can be used.Ovariectomy combined with vaginal balloon dilatation can significantly accelerate and aggravate the formation of typical histological features of pelvic organ prolapse in vaginal wall tissues,effectively shorten the experimental period,and improve the efficiency.These effects reach a stable state at 8 weeks after surgery and can be sustained up to 12 weeks,which is practical and convenient for the study of pelvic organ prolapse animal models.
9.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.
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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