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.A spinal neural circuit for electroacupuncture that regulates gastric functional disorders.
Meng-Ting ZHANG ; Yi-Feng LIANG ; Qian DAI ; He-Ren GAO ; Hao WANG ; Li CHEN ; Shun HUANG ; Xi-Yang WANG ; Guo-Ming SHEN
Journal of Integrative Medicine 2025;23(1):56-65
OBJECTIVE:
Acupuncture therapies are known for their effectiveness in treating a variety of gastric diseases, although the mechanisms underlying these effects are not fully understood. This study tested the effectiveness of electroacupuncture (EA) at acupoints Zhongwan (RN12) and Weishu (BL21) for managing gastric motility disorder (GMD) and investigated the underlying mechanisms involved.
METHODS:
A GMD model was used to evaluate the impact of EA on various aspects of gastric function including the amplitude of gastric motility, electrogastrogram, food intake, and the rate of gastric emptying. Immunofluorescence techniques were used to explore the activation of spinal neurons by EA, specifically examining the presence of cholera toxin B subunit (CTB)-positive neurons and fibers emanating from acupoints RN12 and BL21. The stimulation of γ-aminobutyric acid (GABA)-ergic neurons in the spinal dorsal horn, the inhibition of sympathetic preganglionic neurons in the spinal lateral horn, and their collective effects on the activity of sympathetic nerves were examined.
RESULTS:
EA at RN12 and BL21 significantly improved gastric motility compromised by GMD. Notably, EA activated spinal neurons, with CTB-positive neurons and fibers from RN12 and BL21 being detectable in both the dorsal root ganglia and the spinal dorsal horn. Further analysis revealed that EA at these acupoints not only stimulated GABAergic neurons in the spinal dorsal horn but also suppressed sympathetic preganglionic neurons in the spinal lateral horn, effectively reducing excessive activity of sympathetic nerves triggered by GMD.
CONCLUSION
EA treatment at RN12 and BL21 effectively enhances gastric motility in a GMD model. The therapeutic efficacy of this approach is attributed to the activation of spinal neurons and the modulation of the spinal GABAergic-sympathetic pathway, providing a neurobiological foundation for the role of acupuncture in treating gastric disorders. Please cite this article as: Zhang MT, Liang YF, Dai Q, Gao HR, Wang H, Chen L, Huang S, Wang XY, Shen GM. A spinal neural circuit for electroacupuncture that regulates gastric functional disorders. J Integr Med. 2025; 23(1): 56-65.
Electroacupuncture
;
Animals
;
Male
;
Acupuncture Points
;
Stomach Diseases/physiopathology*
;
Rats, Sprague-Dawley
;
Gastrointestinal Motility
;
Rats
;
Gastric Emptying
;
Neurons
;
Spinal Cord
;
Stomach/physiopathology*
4.Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes
Siqian GONG ; Hong LIAN ; Yating LI ; Xiaoling CAI ; Wei LIU ; Yingying LUO ; Meng LI ; Si-min ZHANG ; Rui ZHANG ; Lingli ZHOU ; Yu ZHU ; Qian REN ; Xiuying ZHANG ; Jing CHEN ; Jing WU ; Xianghai ZHOU ; Xirui WANG ; Xueyao HAN ; Linong JI
Diabetes & Metabolism Journal 2025;49(2):321-330
Background:
Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.
Methods:
Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.
Results:
Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.
Conclusion
MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.
5.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.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.
7.Self-reported chronic disease prevalence among HIV/AIDS patients aged 50 years and above receiving antiretroviral therapy in Wuxi City
LI Qian ; YANG Bolin ; CHEN Jibiao ; YIN Hanlu ; XU Zhuping ; MENG Xiaojun
Journal of Preventive Medicine 2025;37(4):390-394
Objective:
To investigate the prevalence of hypertension, diabetes and hyperlipidemia among HIV/AIDS patients aged 50 years and above receiving antiretroviral therapy (ART) in Wuxi City, Jiangsu Province, so as to provide insights into the prevention and intervention of chronic diseases for these populations.
Methods:
The HIV/AIDS patients aged 50 years and above receiving ART were recruited at designated HIV/AIDS medical institutions in Wuxi City using the convenient sampling method from March to June 2024. Demographic information, treatment status and self-reported prevalence of hypertension, diabetes and hyperlipidemia were collected through questionnaire surveys. Factors affecting the prevalence of chronic diseases were analyzed using a multivariable logistic regression model.
Results:
A total of 830 HIV/AIDS patients receiving ART were surveyed, including 656 males (79.04%) and 375 patients aged 50 to <60 years (45.18%). Among them, 366 patients reported having at least one type of chronic disease, including hypertension, diabetes and hyperlipidemia, with a self-reported prevalence rate of 44.10%. Specifically, 280, 114 and 61 patients reported having hypertension, diabetes and hyperlipidemia, with the self-reported prevalence rates of 33.73%, 13.73% and 7.35%, respectively. Multivariable logistic regression analysis showed that male patients (OR=1.725, 95%CI: 1.187-2.507), those with monthly income less than 3 000 yuan (OR=1.521, 95%CI: 1.122-2.063), those with body mass index of 24 kg/m2 and above (OR=1.577, 95%CI: 1.168-2.130), those who initiated ART at ages of 50 years and above (50 to <60 years, OR=1.535, 95%CI: 1.052-2.238; ≥60 years, OR=3.322, 95%CI: 2.191-5.038), those with ART duration of 10 years and above (OR=2.069, 95%CI: 1.419-3.017), and those who received non-first-line regimens (OR=1.776, 95%CI: 1.304-2.418) had higher risks of developing at least one type of chronic disease, including hypertension, diabetes and hyperlipidemia.
Conclusions
The self-reported prevalence of at least one type of chronic disease, including hypertension, diabetes and hyperlipidemia among HIV/AIDS patients aged 50 years and above receiving ART in Wuxi City was 44.10%. Gender, monthly income, body mass index and ART status are the main influencing factors for the risk of chronic diseases.
8.Two new sesquiterpenoids from Aucklandiae Radix and their farnesoid X receptor agonist activity.
Qian-Yu CHEN ; Dan HUANG ; Hong-Hong ZHAN ; Fan-Cheng MENG ; Guo-Wei WANG ; Min CHEN
China Journal of Chinese Materia Medica 2025;50(7):1810-1816
Various chromatographic methods were comprehensively applied to study the chemical composition of the ethyl acetate extract from Aucklandiae Radix. The structures of all compounds were identified by analyzing their physicochemical properties and using spectroscopic methods. Two new sesquiterpenoids, named auclappsines A and B(1 and 2) were isolated and identified. Through in vitro high content screening and with the use of a guggulsterone-induced L02 cells, the effects of 1 and 2 on farnesoid X receptor(FXR) protein expression were investigated. The results showed that 1 had a significant FXR activation effect, providing a scientific basis for the development of drugs for the treatment of liver and gallbladder diseases.
Receptors, Cytoplasmic and Nuclear/genetics*
;
Humans
;
Sesquiterpenes/isolation & purification*
;
Drugs, Chinese Herbal/isolation & purification*
;
Cell Line
;
Molecular Structure
9.Clinical Efficacy of Compound Danshen Dripping Pills Combined with Tirofiban on Myocardial Ischemia-Reperfusion Injury in Acute ST-Segment Elevation Myocardial Infarction Patients After Percutaneous Coronary Intervention
Qian MENG ; Xiaohui CHEN ; Rui PENG ; Kunsheng WU ; Wanwen KONG ; Guiting ZHOU ; Peijian LIU
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(7):1611-1620
Objective To evaluate the clinical efficacy and safety of Compound Danshen Dripping Pills combined with Tirofiban in alleviating myocardial ischemia-reperfusion injury(MIRI)in patients with acute ST-segment elevation myocardial infarction(STEMI)after percutaneous coronary intervention(PCI).Methods Ninety-two patients with acute STEMI of qi stagnation and blood stasis syndrome who were admitted to the Chest Pain Center of Shunde Hospital,Guangzhou University of Chinese Medicine between March 2023 and October 2023 were equally randomized into a control group and a treatment group using a random number table,with 46 cases in each group.The control group received intracoronary loading dose of Tirofiban during PCI combined with postoperative intravenous micro-pump injection of Tirofiban,while the trial group additionally received Compound Danshen Dripping Pills orally,the treatment course lasted for 4 weeks.Before treatment or immediately after surgery and after 4 weeks of treatment,the two groups were observed in the changes in traditional Chinese medicine(TCM)syndrome scores,cardiac function parameters[including left ventricular ejection fraction(LVEF),cardiac output(CO),and left ventricular end-diastolic diameter(LVEDD)],and levels of inflammatory markers of C-reactive protein(CRP)and brain natriuretic peptide(BNP),as well as safety indicators such as liver and kidney function and coagulation parameters in both groups.The peak values of myocardial necrosis markers of creatine kinase-MB(CK-MB)and troponin I(cTnI)and other myocardial enzyme profiles between the two groups were compared.After treatment,the TCM syndrome efficacy of improvement,the therapeutic effect on improving ST-segment resolution(STR)of electrocardiogram,and the incidence of adverse cardiovascular events in both groups were assessed.Results(1)There were 3 patients dropping out during the trial,with a final total of 89 cases included in the efficacy analysis(44 cases in the control group and 45 cases in the trial group).(2)After 4 weeks of treatment,the total effective rate in the trial group was 95.56%(43/45)and that in the control group was 79.55%(35/44).Intergroup comparison by chi-square test showed that TCM syndrome efficacy in the trial group was significantly superior to that in the control group(P<0.05).(3)After 4 weeks of treatment,the total effective rate for improving STR in the trial group was 93.33%(42/45)and that in the control group was 75.00%(33/44).Intergroup comparison(tested by chi-square test)demonstrated that the trial group had significantly stronger STR improvement efficacy than the control group(P<0.05).(4)After 4 weeks of treatment,the serum levels of CRP and BNP in both groups were lower than those immediately after surgery(P<0.05),and the trial group exhibited significantly greater reductions in both CRP and BNP levels than the control group(P<0.01).(5)The peak values of myocardial necrosis markers of CK-MB and cTnI in the trial group were significantly lower than those in the control group,with statistically significant differences(P<0.05).(6)After 4 weeks of treatment,the trial group showed significant improvements in LVEF and CO compared to immediate postoperative values(P<0.05),while LVEDD demonstrated an improving trend without statistical significance(P>0.05).The control group showed no significant improvements in LVEF,CO,or LVEDD(P>0.05).The intergroup comparison revealed that the trial group had significantly better improvements in LVEF and CO than the control group(P<0.05 or P<0.01).(7)After 4 weeks of treatment,both groups showed reductions in the scores of chest pain,chest tightness,palpitations,emotional depression,hypochondriac distension,and dull complexion,as well as the total syndrome scores when compared to pretreatment values(P<0.05),and the trial group presented significantly greater reductions than the control group(P<0.05).(8)No statistically significant differences were shown in the parameters of liver/kidney function or coagulation between the two groups before and after treatment(P>0.05).(9)The incidence of postoperative adverse cardiovascular events in the control group was 13.64%(6/44)and that in the trial group was 6.67%(3/45),and the intergroup comparison(tested by Fisher's exact test)showed no statistically significant difference(P>0.05).Conclusion The combination therapy of Compound Danshen Dripping Pills and Tirofiban demonstrates significant efficacy in improving TCM syndromes,ST-segment elevation,myocardial necrosis markers,and cardiac function in STEMI patients after PCI,with good safety.
10.Comparison of potential profiles analysis of psychosocial adaptation and social alienation differences in nsoriasis natients
Junying QIAN ; Meng QIAO ; Shu WANG ; Lihua CHEN ; Mengqiu LIU ; Rong WEI ; Linlin XIN
Chongqing Medicine 2025;54(4):824-829
Objective To explore the potential categories of psychosocial adaptation in psoriasis patients and their differences in social alienation.Methods Using a cross-sectional survey design,convenience sam-pling was used to select 376 psoriasis patients from multiple hospitals in Shandong Province from September to December 2022.Participants completed the general information questionnaire,Psychosocial Adaptation to Illness Scale(PAIS-SR),Acceptance and Action Questionnaire-Ⅱ(AAQ-2),and General Alienation Scale(GAS).Latent profile analysis was performed using Mplus8.0 software to identify psychosocial adaptation patterns of psoriasis patients,and SPSS25.0 was used to compare social alienation differences among different adaptation groups.Results Psoriasis patients could be divided into two latent profiles:moderate psychosocial adaptation group(31.38%)and low psychosocial adaptation group(68.62%).Medical payment method,dis-ease recurrence,psoriasis subtype,disease duration,family history,skin lesion exposure,and AAQ-2 scores were identified as main influencing factors(P<0.05).Significant differences in total GAS scores were found between the two groups(P<0.05).Conclusion The psychosocial adaptation of psoriasis patients shows het-erogeneity and could be classified into two latent profiles.Targeted interventions should be implemented to improve psychosocial adaptation levels.


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