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.Impact of Onset-to-Door Time on Endovascular Therapy for Basilar Artery Occlusion
Tianlong LIU ; Chunrong TAO ; Zhongjun CHEN ; Lihua XU ; Yuyou ZHU ; Rui LI ; Jun SUN ; Li WANG ; Chao ZHANG ; Jianlong SONG ; Xiaozhong JING ; Adnan I. QURESHI ; Mohamad ABDALKADER ; Thanh N. NGUYEN ; Raul G. NOGUEIRA ; Jeffrey L. SAVER ; Wei HU
Journal of Stroke 2025;27(1):140-143
3.Role and mechanism of T helper 17 cells/regulatory T cells immune balance regulated by the TGF-β1/Smad signaling pathway mediated in nonalcoholic steatohepatitis
Qian WANG ; Kaiyang LI ; Mei YANG ; Hang ZHANG ; Shengjin ZHU ; Qi ZHAO ; Jing HUANG
Journal of Clinical Hepatology 2025;41(5):942-947
Nonalcoholic steatohepatitis (NASH) is a chronic metabolic disease characterized by hepatocyte fatty degeneration and ballooning degeneration, and it plays an important role in the progression of hepatic steatosis. Recent studies have shown that immune homeostasis imbalance between T helper 17 (Th17) and regulatory T (Treg) cells are closely associated with the pathological process of NASH. Transforming growth factor-β1 (TGF-β1) is a key cytokine for regulating the differentiation and proliferation of Th17/Treg cells, and TGF-β1 binds to its receptor and activates the Smad signaling pathway, thereby regulating the immune balance of Th17/Treg cells and the expression of inflammatory factors and participating in the repair of liver inflammation. This article systematically reviews the molecular mechanism of the TGF-β1/Smad signaling pathway in affecting NASH by regulating the immune balance of Th17/Treg cells, in order to provide a theoretical basis for the research on the pathogenesis of NASH and related treatment strategies.
4.Impact of childhood maltreatment and sleep quality on depressive symptoms among middle school students
Chinese Journal of School Health 2025;46(1):73-77
Objective:
To explore the impact of sleep quality, experience of childhood maltreatment, and their interaction on depressive symptoms among middle school students, so as to provide the reference for early intervention of depressive symptoms among middle school students.
Methods:
From September to December 2023, a questionnaire survey was conducted among 1 231 students from two secondary schools in Harbin, Heilongjiang Province by a convenient sampling method. The survey included general demographic information, Childhood Trauma Questionnaire Short Form, Pittsburgh Sleep Quality Index and Short Version of Center for Epidemiological Studies Depression Scale. The Chi square test was used to analyze the differences in depressive symptom, sleep quality and childhood maltreatment among students with different demographic characteristics. Correlation analysis was conducted using Logistic regression, and interaction analysis was performed by both additive and multiplicative interaction models.
Results:
The detection rate of depressive symptoms among middle school students was 22.7%, and the rate for high school students (35.2%) was significantly higher than that for middle school students (17.0%) ( χ 2=50.35, P <0.01). The detection rates of depressive symptoms among middle school students with a history of childhood maltreatment and poor sleep quality were 45.8% and 44.0%, respectively. Multivariate Logistic regression analysis showed that compared to students without a history of childhood maltreatment, students with a history of childhood maltreatment had a higher risk of depressive symptoms ( OR =4.49,95% CI =3.31~ 6.09 , P <0.01);students with poor sleep quality had a higher risk of depressive symptoms than students with good sleep quality ( OR = 5.99,95% CI =4.37~8.22, P <0.01).The interaction results showed that the presence of childhood maltreatment and poor sleep quality had an additive interaction on the occurrence of depression in middle school students. Compared with students without childhood maltreatment and having good sleep quality, students with childhood maltreatment and poor sleep quality had a 22.49 times higher risk of developing depression ( OR =22.49,95% CI =14.22~35.59, P <0.01).
Conclusion
Depressive symptoms among middle school students are associated with childhood maltreatment and poor sleep quality, and there is an additive interaction between childhood maltreatment and poor sleep quality on the impact of depressive symptoms.
5.Research progress of nano drug delivery system based on metal-polyphenol network for the diagnosis and treatment of inflammatory diseases
Meng-jie ZHAO ; Xia-li ZHU ; Yi-jing LI ; Zi-ang WANG ; Yun-long ZHAO ; Gao-jian WEI ; Yu CHEN ; Sheng-nan HUANG
Acta Pharmaceutica Sinica 2025;60(2):323-336
Inflammatory diseases (IDs) are a general term of diseases characterized by chronic inflammation as the primary pathogenetic mechanism, which seriously affect the quality of patient′s life and cause significant social and medical burden. Current drugs for IDs include nonsteroidal anti-inflammatory drugs, corticosteroids, immunomodulators, biologics, and antioxidants, but these drugs may cause gastrointestinal side effects, induce or worsen infections, and cause non-response or intolerance. Given the outstanding performance of metal polyphenol network (MPN) in the fields of drug delivery, biomedical imaging, and catalytic therapy, its application in the diagnosis and treatment of IDs has attracted much attention and significant progress has been made. In this paper, we first provide an overview of the types of IDs and their generating mechanisms, then sort out and summarize the different forms of MPN in recent years, and finally discuss in detail the characteristics of MPN and their latest research progress in the diagnosis and treatment of IDs. This research may provide useful references for scientific research and clinical practice in the related fields.
6.Analysis of the association between the use of oral progesterone drugs in early pregnancy and gestational diabetes mellitus
Yan QIN ; Jinhua GU ; Jing ZHU ; Lin LUO ; Peng PING ; Lingqi GU
China Pharmacy 2025;36(6):721-726
OBJECTIVE To explore the association between the use of oral progesterone drugs in early pregnancy and gestational diabetes mellitus (GDM). METHODS Through real-world retrospective cohort research method, pregnant women who underwent the oral glucose tolerance test (OGTT) at the Affiliated Maternal and Child Health Hospital of Nantong University between January 2022 and January 2023 were enrolled. Based on whether oral progesterone drugs were used in early pregnancy, they were divided into treatment group and control group; propensity score matching (PSM) with a 1∶1 ratio was employed to control for confounding factors; Logistic regression and linear regression were employed to analyze the association between drug factors (whether use of oral progesterone drug, duration of medication, dosage, and drug type) and outcome indicators (occurrence of GDM, fasting blood glucose levels, and OGTT 1 and 2 h blood glucose levels in late pregnancy). RESULTS A total of 709 pregnant women were enrolled in the two groups before PSM; after PSM, 256 cases were included in both the treatment group and the control group. The results of association analysis indicated that there was no significant association between the use of oral progesterone drugs and GDM (P>0.05); but a significant correlation was found with OGTT 1 h blood glucose levels [β=0.965, 95%CI (0.007,1.922), P<0.05], specifically with Dydrogesterone tablets [β=0.977, 95%CI (0.009, 1.944), P<0.05] and Progesterone soft capsules [β =1.089, 95%CI (0.077, 2.102), P<0.05]. There was no significant correlation between other drug factors and outcome indicators (P>0.05). CONCLUSIONS The use of oral progestogen drugs in early pregnancy is not significantly associated with GDM. The blood glucose levels in late pregnancy, especially OGTT 1 h blood glucose levels, have a certain correlation with Progesterone soft capsules and Dydrogesterone tablets.
7.Establishment of a method for detecting the potency of recombinant human coagulation factor Ⅶa for injection
Rong WU ; Liping WANG ; Jinye LANG ; Yue ZHU ; Jing ZHOU ; Xun LIU ; Jing NI ; Shunbo ZHOU ; Yaling DING
Chinese Journal of Blood Transfusion 2025;38(3):415-420
[Objective] To establish a method for detecting the potency of recombinant human coagulation factor Ⅶa for injection. [Methods] By adding the sample and factor Ⅶ deficient plasma to the sample cup and activating the reaction with prothrombin time assay reagent (PT reagent), the coagulation time of the sample was determined by the change in magnetic bead swing amplitude in the sample cup. The logarithm of coagulation time was inversely proportional to the logarithm of human factor Ⅶa potency. [Results] Under the experimental conditions, the specificity of the methodology was evaluated through spiked recovery, and the recovery rates ranged from 90.0% to 110.0%. Within the range from 0.125 to 1.000 IU/mL, there was a good linear response between the potency and coagulation time of the standard and sample, with correlation coefficients r>0.99. As for the accuracy and repeatability, the recovery rates of various concentrations detected in the stock solution were 101.0%, 100.0% and 112.0%, respectively, with RSD values of 2.6%, 4.0% and 0.0%, respectively. The recovery rates of various concentrations in finished product testing were 104.0%, 94.7% and 112.0%, respectively, with RSD values of 1.9%, 2.4% and 0.0%, respectively. As for the intermediate precision, the RSD were 4.5% and 3.7%, respectively. After treated with sample diluent, the sample was tested at room temperature for 6 hours and still exhibited relatively stable biological activity. [Conclusion] This detection method is accurate, stable, easy to operate and highly automated, and is suitable for detecting the potency of recombinant human coagulation factor Ⅶa for Injection.
8.Research status of quality assessment of hospice care for children with cancer abroad
Jing WU ; Xianhong ZHANG ; Lu WEI ; Xiaochuan ZHU
Chinese Medical Ethics 2025;38(3):275-280
The effectiveness and professionalism of hospice care services for children with cancer are of great significance for improving their quality of life and reducing the mental and economic burden on their families. Currently, a relatively complete quality evaluation system for hospice care for children with cancer has been established abroad, while research in this field in China is still in its infancy. By elaborating on the concept and connotation of quality assessment of hospice care for children with cancer in detail, systematically reviewing the research status of quality assessment of hospice care for children with cancer abroad, and addressing the problems and challenges faced by quality assessment of hospice care for children with cancer in China, corresponding inspirations and improvement strategies were proposed, aiming to provide a reference for improving the quality of hospice care for children with cancer in China.
9.Clinical Safety Monitoring of 3 035 Cases of Juvenile Feilike Mixture After Marketing in Hospital
Jian ZHU ; Zhong WANG ; Jing LIU ; Jun LIU ; Wei YANG ; Yanan YU ; Hongli WU ; Sha ZHOU ; Zhiyu PAN ; Guang WU ; Mengmeng WU ; Zhiwei JING
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(10):194-200
ObjectiveTo explore the clinical safety of Feilike Mixture (FLK) in the real world. MethodsThe safety of all children who received FLK from 29 institutions in 12 provinces between January 21,2021 and December 25,2021 was evaluated through prospective centralized surveillance and a nested case control study. ResultsA total of 3 035 juveniles were included. There were 29 research centers involved,which are distributed across 12 provinces,including one traditional Chinese medicine (TCM) hospital and 28 general hospitals. The average age among the juveniles was (4.77±3.56) years old,and the average weight was (21.81±12.97) kg. Among them,119 cases (3.92%) of juveniles had a history of allergies. Acute bronchitis was the main diagnosis for juveniles,with 1 656 cases (54.46%). FLK was first used in 2 016 cases (66.43%),and 142 juvenile patients had special dosages,accounting for 4.68%. Among them,92 adverse drug reactions (ADRs) occurred,including 73 cases of gastrointestinal system disorders,10 cases of metabolic and nutritional disorders,eight cases of skin and subcutaneous tissue diseases,two cases of vascular and lymphatic disorders,and one case of systemic diseases and various reactions at the administration site. The manifestations of ADRs were mainly diarrhea,stool discoloration,and vomiting,and no serious ADRs occurred. The results of multi-factor analysis indicated that special dosages (the use of FLK)[odds ratio (OR) of 2.642, 95% confidence interval (CI) of 1.105-6.323],combined administration: spleen aminopeptide (OR of 4.978, 95%CI of 1.200-20.655),and reason for combined administration: anti-infection (OR of 1.814, 95%CI of 1.071-3.075) were the risk factors for ADRs caused by FLK. Conclusion92 ADRs occurred among 3 035 juveniles using FLK. The incidence of ADRs caused by FLK was 3.03%,and the severity was mainly mild or moderate. Generally,the prognosis was favorable after symptomatic treatment such as drug withdrawal or dosage reduction,suggesting that FLK has good clinical safety.
10.Experience of WANG Jie in Treating Palpitation by Using the Method of Tonifying the Kidney and Invigorating Blood
Jing TIAN ; Mi DENG ; Luna NIU ; Baoying LI ; Yuling CHA ; Ruowei ZHU ; Lu JING
Journal of Traditional Chinese Medicine 2025;66(10):996-999
To summarize the clinical experience of Professor WANG Jie in treating palpitation using the method of tonifying the kidneys and invigorating blood. It is believed that kidney yang deficiency and heart vessel stasis are the key pathogenesis of palpitation, and it is advocated to treat palpitation by tonifying the kidney and invigorating the blood. Meanwhile,the methods of draining water, dissolving phlegm, and fortifying the spleen to supplement the blood should be applied. For palpitation with kidney yang deficiency and heart vessel stasis with upward water, the treatment could use self-prescribed Bushen Huoxue Lishui Formula (补肾活血利水方); for palpitation with phlegm obstruction in blood vessel, the treatment could use self-prescribed Bushen Huoxue Huatan Formula (补肾活血化痰方); for palpitation with spleen yang deficiency, the treatment could use self-prescribed Bushen Huoxue Jianpi Formula (补肾活血健脾方).


Result Analysis
Print
Save
E-mail