1.Analysis of the frequency of X-ray diagnostic examinations and CT radiation doses in public hospitals of a district in Ningbo City, China
Shuxia HAO ; Mengxue LI ; Yong WANG ; Shengnan FAN ; Jingguo ZHANG ; Xueying WANG ; Jun DENG ; Quanfu SUN
Chinese Journal of Radiological Health 2025;34(3):324-330
Objective To systematically analyze the medical radiation exposure levels in a district of Ningbo City and to provide a scientific basis for the reasonable and effective control of medical radiation exposure. Methods Based on the radiological diagnosis frequency and dose information system, basic medical radiation exposure data were collected, such as radiation doses received by patients in various X-ray diagnostic examinations, from all 13 public medical institutions in a district of Ningbo City from January 1 to December 31, 2020. The data were analyzed for the percentage and collective effective dose of various diagnostic examinations, the distribution of examinations by sex and age, and the number of patients undergoing two or more examinations and their cumulative doses within multiple time intervals. Results Among medical X-ray diagnostic examinations in the district, the percentages of CT examination and routine photography examination were 50.88% and 47.93%, respectively, and the collective effective dose of CT examination accounted for 97.75%. By age and sex, the frequency of examination was the highest in the age group of 45-54 years, and the frequency of examination in the male was higher than that in the female before age 55. The annual effective dose for two patients exceeded 100 mSv. Conclusion In this study, CT examination accounted for up to 50.88% of all medical X-ray diagnostic examinations, and contributed 97.75% of the collective effective dose, highlighting the need for particular attention to the justification of medical radiation exposure from CT.
2.Analysis of incidence of stroke in Beilun District, Ningbo City, Zhejiang Province, 2012‒2023
Kunpeng GU ; Qi HU ; Qiaofang LI ; Zhiliang FAN ; Hang HONG
Shanghai Journal of Preventive Medicine 2025;37(7):586-590
ObjectiveTo analyze the incidence and trend of stroke in Beilun District, so as to provide evidence for identifying influencing factors and reducing stroke incidence. MethodsStroke cases from 2012 to 2023 were extracted from the Ningbo Chronic Disease Collaborative Management System. Population information of Beilun District during the same period was also collected. The annual incidence and trends of stroke were analyzed. ResultsFrom 2012 to 2023, the age-standardized incidence rate of stroke in Beilun District, Ningbo City was 317.68/100 000, showing an increasing trend with an average annual percentage change (AAPC) of 2.267% (P=0.034). Among all subdistricts in Beilun District, two showed a downward trend in incidence, while the rest showed an upward trend. The crude incidence rate of stroke was significantly higher in males than that in females (P<0.001). The age-standardized incidence rate in males was 406.08/100 000, showing an increasing trend (AAPC=3.956%, P<0.001). The incidence of stroke also showed an increasing trend in the following age groups: 30‒<45 years (AAPC=6.340%, P=0.004), 45‒<60 years (AAPC=4.997%, P<0.001), and 60‒<75 years (AAPC=3.282%, P=0.042). Across all years, males had higher crude incidence rates in both ischemic and hemorrhagic stroke than females (P<0.05). The age-standardized incidence rate of ischemic stroke showed a rising trend in both males and the general population (male AAPC=4.905%, P<0.001; overall population AAPC=3.065%, P=0.001). ConclusionThe age-standardized incidence of stroke in Beilun District is on the rise, with higher crude incidence rate in males than that in females. The onset age of stroke is gradually declining. The age-standardized incidence rate of male ischemic stroke shows a clear upward trend.
3.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
4.Advancing network pharmacology with artificial intelligence: the next paradigm in traditional Chinese medicine.
Xin SHAO ; Yu CHEN ; Jinlu ZHANG ; Xuting ZHANG ; Yizheng DAI ; Xin PENG ; Xiaohui FAN
Chinese Journal of Natural Medicines (English Ed.) 2025;23(11):1358-1376
Network pharmacology has gained widespread application in drug discovery, particularly in traditional Chinese medicine (TCM) research, which is characterized by its "multi-component, multi-target, and multi-pathway" nature. Through the integration of network biology, TCM network pharmacology enables systematic evaluation of therapeutic efficacy and detailed elucidation of action mechanisms, establishing a novel research paradigm for TCM modernization. The rapid advancement of machine learning, particularly revolutionary deep learning methods, has substantially enhanced artificial intelligence (AI) technology, offering significant potential to advance TCM network pharmacology research. This paper describes the methodology of TCM network pharmacology, encompassing ingredient identification, network construction, network analysis, and experimental validation. Furthermore, it summarizes key strategies for constructing various networks and analyzing constructed networks using AI methods. Finally, it addresses challenges and future directions regarding cell-cell communication (CCC)-based network construction, analysis, and validation, providing valuable insights for TCM network pharmacology.
Medicine, Chinese Traditional/methods*
;
Artificial Intelligence
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Network Pharmacology/methods*
;
Humans
;
Drugs, Chinese Herbal/chemistry*
;
Drug Discovery
5.Efficacy and safety of acupuncture therapies for adult patients with mild and moderate major depressive disorder: A systematic review and meta-analysis.
Hong-Jun KUANG ; Hui-Sheng YANG ; Yi-Xuan FENG ; Han TANG ; Qi FAN ; Yu-Qin XU ; Shuo CUI ; Richard MUSIL ; Hedi LUXENBURGER ; Yi-Xuan ZHANG ; Hong ZHAO ; Yu-Qing ZHANG
Journal of Integrative Medicine 2025;23(5):471-491
BACKGROUND:
Acupuncture therapy provides a complementary and alternative approach to treating major depressive disorder (MDD), but its efficacy and safety have still not been comprehensively assessed. Recently published systematic reviews remain confusing and inconclusive.
OBJECTIVE:
This systematic review evaluated the efficacy and safety of acupuncture therapy alone or combined with antidepressants for adult patients with mild and moderate MDD.
SEARCH STRATEGY:
Chinese Biomedical Literature Database, China National Knowledge Infrastructure Database, Wanfang Database, Chinese Science and Technology Journal Database, PubMed, Embase, and Cochrane Library were searched from their inceptions to March 2025.
INCLUSION CRITERIA:
Randomized controlled trials that compared acupuncture therapy with antidepressants, or acupuncture therapy plus antidepressants with acupuncture therapy or antidepressants for adult patients with mild and moderate MDD were included.
DATA EXTRACTION AND ANALYSIS:
Five reviewers independently extracted data from original literature using a standardized form, and the data were verified by two reviewers to ensure accuracy. Statistical meta-analyses, publication bias analyses, and subgroup analyses were performed by using Review Manager 5.3 software. The Grading of Recommendations Assessment, Development, and Evaluation approach was used to assess the certainty of the evidence.
RESULTS:
A total of 60 eligible studies including 4675 participants were included. Low-certainty evidence showed that compared with antidepressants, acupuncture therapy (standardized mean difference [SMD] = -0.57; 95% confidence interval [CI] = [-0.87, -0.27]; I2 = 86%; P = 0.006) or acupuncture therapy plus antidepressants (SMD = -1.00; 95% CI = [-1.18, -0.81]; I2 = 77%; P < 0.00001) may reduce the severity of depression at the end of treatment. Low-certainty evidence indicated that compared with acupuncture therapy alone, acupuncture therapy plus antidepressants slightly reduced the severity of depression at the end of treatment (SMD = -0.38; 95% CI = [-0.61, -0.14]; I2 = 18%; P = 0.002). Similar results were also found for acupuncture's relief of insomnia. The reported adverse effects of acupuncture therapy were mild and transient. For most of the subgroup analyses, acupuncture type, scale type, and the course of treatment did not show a significant relative effect.
CONCLUSION
Acupuncture therapy may provide antidepressant effects and relieve insomnia with mild adverse effects for adult patients with mild and moderate MDD. But the certainty of evidence was very low. More high-quality, well designed, large-scale studies with long-term follow-up are needed in the future. Please cite this article as: Kuang HJ, Yang HS, Feng YX, Tang H, Fan Q, Xu YQ, Cui S, Musil R, Luxenburger H, Zhang YX, Zhao H, Zhang YQ. Efficacy and safety of acupuncture therapies for adult patients with mild and moderate major depressive disorder: A systematic review and meta-analysis. J Integr Med. 2025; 23(5):471-491.
Humans
;
Acupuncture Therapy/methods*
;
Depressive Disorder, Major/therapy*
;
Adult
;
Antidepressive Agents/therapeutic use*
;
Treatment Outcome
;
Randomized Controlled Trials as Topic
6.The transcriptomic-based disease network reveals synergistic therapeutic effect of total alkaloids from Coptis chinensis and total ginsenosides from Panax ginseng on type 2 diabetes mellitus.
Qian CHEN ; Shuying ZHANG ; Xuanxi JIANG ; Jie LIAO ; Xin SHAO ; Xin PENG ; Zheng WANG ; Xiaoyan LU ; Xiaohui FAN
Chinese Journal of Natural Medicines (English Ed.) 2025;23(8):997-1008
Coptis chinensis Franch. and Panax ginseng C. A. Mey. are traditional herbal medicines with millennia of documented use and broad therapeutic applications, including anti-diabetic properties. However, the synergistic effect of total alkaloids from Coptis chinensis and total ginsenosides from Panax ginseng on type 2 diabetes mellitus (T2DM) and its underlying mechanism remain unclear. The research demonstrated that the optimal ratio of total alkaloids from Coptis chinensis and total ginsenosides from Panax ginseng was 4∶1, exhibiting maximal efficacy in improving insulin resistance and gluconeogenesis in primary mouse hepatocytes. This combination demonstrated significant synergistic effects in improving glucose tolerance, reducing fasting blood glucose (FBG), the weight ratio of epididymal white adipose tissue (eWAT), and the homeostasis model assessment of insulin resistance (HOMA-IR) in leptin receptor-deficient (db/db) mice. Subsequently, a T2DM liver-specific network was constructed based on RNA sequencing (RNA-seq) experiments and public databases by integrating transcriptional properties of disease-associated proteins and protein-protein interactions (PPIs). The network recovery index (NRI) score of the combined treatment group with a 4∶1 ratio exceeded that of groups treated with individual components. The research identified that activated adenosine 5'-monophosphate-activated protein kinase (AMPK)/acetyl-CoA carboxylase (ACC) signaling in the liver played a crucial role in the synergistic treatment of T2DM, as verified by western blot experiment in db/db mice. These findings demonstrate that the 4∶1 combination of total alkaloids from Coptis chinensis and total ginsenosides from Panax ginseng significantly improves insulin resistance and glucose and lipid metabolism disorders in db/db mice, surpassing the efficacy of individual treatments. The synergistic mechanism correlates with enhanced AMPK/ACC signaling pathway activity.
Animals
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Panax/chemistry*
;
Ginsenosides/administration & dosage*
;
Diabetes Mellitus, Type 2/metabolism*
;
Mice
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Male
;
Alkaloids/pharmacology*
;
Coptis/chemistry*
;
Drug Synergism
;
Insulin Resistance
;
Mice, Inbred C57BL
;
Humans
;
Transcriptome/drug effects*
;
Blood Glucose/metabolism*
;
Hypoglycemic Agents/administration & dosage*
;
Drugs, Chinese Herbal/administration & dosage*
;
Hepatocytes/metabolism*
7.Association between the non-treatment threshold or upper limit of normal of alanine aminotransferase and liver pathological injury in patients with chronic hepatitis B virus infection and a persistently low level of alanine aminotransferase
Ming SHU ; Suwen JIANG ; Airong HU ; Qin CHEN ; Jialan WANG ; Menghan JIN ; Haojin ZHANG ; Shiqi YANG ; Shiyang FAN
Journal of Clinical Hepatology 2025;41(10):2044-2053
ObjectiveTo investigate the significance of different non-treatment thresholds or upper limits of normal (ULN) of alanine aminotransferase (ALT) in evaluating significant liver pathological injury in patients with chronic hepatitis B virus (HBV) infection, and to provide guidance for clinical diagnosis and treatment. MethodsThis study was conducted among 733 patients with chronic HBV infection who were hospitalized in Ningbo No. 2 Hospital from January 2015 to December 2023 and underwent liver biopsy and histopathological examination, and all patients had a persistent ALT level of ≤40 U/L and positive HBV DNA (>30 IU/mL). According to the treatment threshold or ULN of ALT, the patients were divided into group 1 with 575 patients (≤35 U/L for male patients, ≤25 U/L for female patients), group 2 with 430 patients (≤30 U/L for male patients, ≤19 U/L for female patients), group 3 with 443 patients (≤27 U/L for male patients, ≤24 U/L for female patients), group 4 with 446 patients (≤25 U/L), group 5 with 158 patients (>35 U/L for male patients, >25 U/L for female patients), and group 6 with 145 patients (>30 — ≤35 U/L for male patients, >19 — ≤25 U/L for female patients). Groups 2, 5, and 6 were compared to analyze the severity of liver pathological injury in patients with different ALT levels and the constituent ratio of patients with significant liver pathological injury, and groups 1, 2, 3, and 4 were compared to investigate the value of different ULN or non-treatment thresholds of ALT in determining liver inflammation grade (G), liver fibrosis stage (S), and the treatment indication based on liver pathology. The independent-samples t test was used for comparison of normally distributed continuous data between two groups; a one-way analysis of variance was used for comparison between multiple groups, and the least significant difference t-test or the Tambane’s test was used for further comparison between two groups; the Mann-Whitney U test was used for comparison of non-normally distributed continuous data between two groups, and the Kruskal-Wallis H test was used for comparison between multiple groups and further comparison between two groups; the chi-square test or the Fisher’s exact test was used for comparison of categorical data between groups; a Ridit analysis was used for comparison of ranked data. A multivariate Logistic regression analysis (forward stepwise) was performed with whether liver pathology met the treatment indication (≥G2 and/or ≥S2) as the dependent variable and related factors with a significant impact on the dependent variable (P <0.05) as the independent variable. The receiver operating characteristic (ROC) curve was plotted, and the area under the ROC curve (AUC), as well as sensitivity, specificity, positive predictive value, negative predictive value, positive likelihood ratio, and negative likelihood ratio, was used to assess the diagnostic value of different non-treatment thresholds of ALT. ResultsAmong the 733 patients, 259 (35.33%) had ≥G2 liver inflammation, 211 (28.79%) had ≥S2 liver fibrosis, and 306 (41.75%) had treatment indication (≥G2 and/or ≥S2). There was a significant difference in liver inflammation grade (G0 — G4) between groups 2, 5, and 6 (χ2=22.869, P <0.001), and there were also significant differences in the constituent ratios of patients with ≥G2 or ≥G3 liver inflammation between the three groups (χ2=21.742 and 14.921, P<0.001 and P=0.001). There was a significant difference in liver fibrosis stage (S0 — S4) between groups 2, 5, and 6 (χ2=16.565, P<0.001), and there were also significant differences in the constituent ratios of patients with ≥S2, ≥S3 or S4 liver fibrosis between the three groups (χ2=13.264, 13.050, and 6.260, P=0.001, 0.001, and 0.044). There were significant differences between groups 2, 5, and 6 in the constituent ratios of patients with or without treatment indication based on liver pathology (χ2=20.728, P<0.001). There were significant differences between groups 2, 5, and 6 in the constituent ratio of male patients (χ2=24.836, P<0.05), age (F=5.710, P<0.05), ALT (F=473.193, P<0.05), aspartate aminotransferase (AST) (F=107.774, P<0.05), ALT/AST ratio (F=40.167, P<0.05), γ-glutamyl transpeptidase (GGT) (H=15.463, P<0.05), aspartate aminotransferase-to-platelet ratio index (APRI) (H=63.024, P<0.05), and LIF-5 (5 indicators for liver inflammation and fibrosis) (H=46.397, P<0.05). In groups 1 — 4, compared with the patients without treatment indication, the patients with treatment indication had a significantly lower constituent ratio of patients with positive HBeAg, significantly lower levels of platelet count (PLT) and HBV DNA, and significantly higher age, ALT, AST, GGT, APRI, FIB-4, and LIF-5 (all P<0.05). The Logistic regression analysis showed that age (odds ratio [OR]=1.044, 95% confidence interval [CI]: 1.025 — 1.063, P<0.001), GGT (OR=1.022, 95%CI: 1.007 — 1.038, P=0.003), and HBV DNA (OR=0.839, 95%CI: 0.765 — 0.919, P<0.001) were influencing factors for treatment indication based on liver pathology in group 1; HBeAg (OR=1.978, 95%CI: 1.269 — 3.082, P=0.003), age (OR=1.048, 95%CI: 1.025 — 1.071, P<0.001), GGT (OR=1.016, 95%CI: 1.001 — 1.031, P=0.041), and PLT (OR=0.995, 95%CI: 0.991 — 1.000, P=0.049) were influencing factors in group 2; age (OR=1.040, 95%CI: 1.014 — 1.066, P=0.002), ALT (OR=1.047, 95%CI: 1.005 — 1.092, P=0.029), HBV DNA (OR=0.817, 95%CI: 0.736 — 0.907, P<0.001), and LIF-5 (OR=7.382, 95%CI: 1.151 — 47.330, P=0.035) were influencing factors in group 3; age (OR=1.054, 95%CI: 1.031 — 1.077, P<0.001), ALT (OR=1.061, 95%CI: 1.016 — 1.107, P=0.008), and HBV DNA (OR=0.825, 95%CI: 0.743 — 0.917, P<0.001) were influencing factors in group 4. The diagnostic performance for identifying ≥G2 liver inflammation, ≥S2 liver fibrosis, and treatment indication in groups 1 — 4 had an AUC of >0.7; group 1 showed the lowest sensitivity (28.76%) and the highest specificity, positive predictive value, positive likelihood ratio, and negative likelihood ratio in judging treatment indication; group 2 had the highest sensitivity and negative predictive value and the lowest negative likelihood ratio; groups 3 and 4 had similar diagnostic indicators. ConclusionIn patients with chronic HBV infection and a persistently low ALT level, the severity of liver histopathological injury and the constituent ratio of significant liver histopathological injury decrease with the reduction in ALT level. A higher non-treatment threshold or ULN of ALT can help to identify the patients requiring treatment (with a higher specificity), while a lower non-treatment threshold or ULN of ALT can help to identify the patients who do not require treatment (with a higher sensitivity).
8.Exploration of potential active ingredients and mechanism of action of Xihuang pill-medicated serum against glioma based on HPLC-Q-TOF-MS/MS, network pharmacology and experimental verification
Jing PAN ; Qi-hai ZHANG ; Hao-wen FAN ; Xia WANG ; Wei-feng YAO ; Hong-bin XU
Acta Pharmaceutica Sinica 2024;59(3):693-703
Qualitative analysis of the ingredients absorbed into blood and their metabolites of Xihuang pill (XHP) were conducted using high-performance liquid chromatography quadrupole time-of-flight mass spectrometry (HPLC-Q-TOF-MS/MS) technology. Network pharmacology was used to explore the potential anticancer mechanisms of the ingredients against glioma, and their specific mechanisms were validated through molecular docking and experimental verification. SD rats were intragastrically administered with XHP, and rat serum samples were collected. Ingredients absorbed into blood and their metabolites were identified based on the retention time of chromatographic peaks, accurate molecular mass, characteristic fragment ions, and comparisons with reference substances and literature data. PharmMapper and SwissTarget Prediction databases were used to obtain the targets of the XHP-medicated serum, while GeneCards, OMIM, PharmGKB, TTD, and DrugBank databases were used to obtain glioma disease targets. The "component-target" network relationship diagram was constructed using Cytoscape 3.9.1 software. The protein-protein interaction (PPI) network diagram was constructed using the STRING database, and the targets were analyzed using GO and KEGG analyses. Molecular docking was used to verify the binding ability of core targets with their corresponding compounds in XHP-medicated serum. The potential mechanism of the anti-glioma effect of 11-keto-
9.Explore the Mechanism of Steam-processed Polygonatum Sibiricum Polysaccharides in Prophylaxis and Treatment of Blood Deficiency Mice Model Based on Transcriptomics
Juan WANG ; Furong WANG ; Xin PENG ; Zhanyun SHEN ; Zhibiao ZHU ; Xiaoling FAN
Chinese Journal of Modern Applied Pharmacy 2024;41(3):324-331
OBJECTIVE
To explore the mechanism of steam-processed Polygonatum sibiricum polysaccharides(SPSP) in prophylaxis and treatment of mice with blood deficiency syndrome(BDS) by RNA sequencing(RNA-seq) technology.
METHODS
The mice were randomly divided into five groups(10 mice in each group), namely normal group, model group, SPSP groups(0.1, 0.4 g·kg−1), Danggui Buxue oral liquid(DOL) group. BDS model was induced in mice by acetylphenyl-hydrazine and cyclophosphamide. Blood routine, body weight and body temperature were tested after a consecutive administration for 14 d. The differential expressed genes(DEGs) related to anti-BDS by SPSP were screened through the transcriptome sequencing of the hepatic tissue in BDS mice. Functional annotation and enrichment analysis were performed to screen out the gene expression signaling pathways related to the treatment of SPSP on BDS mice. Quantitative polymerase chain reaction(qPCR) was used to verify the experiment.
RESULTS
Compared with the model group, SPSP(0.4 g·kg−1) could elevate the blood routine indexes such as red blood cell, white blood cell, hemoglobin, platelet, mean corpuscular hemoglobin concen-tration(P<0.01), and reverse the body weight and body temperature to normal(P<0.01 or P<0.05). The result of transcriptomic analysis showed that the underlying mechanism was mainly related to hematopoietic cell line, retinol metabolism, steroid hormone biosynthesis, platelet activation, B cell receptor signaling pathway, and leukocyte transendothelial migration, etc. The result of qPCR showed that SPSP(0.4 g·kg−1) could elevate the expression of JAK1, STAT1 and GATA1 mRNA (P<0.01 or P<0.05).
CONCLUSION
SPSP has therapeutic effects on BDS. The key DEGs in the treatment of BDS by SPSP are mainly related to the restoration of hematopoietic function, regulation of hormone and immune function. The mechanism of SPSP on treatment of BDS might be the regulation of JAK1/STAT1 signaling pathway.
10.Clinical and genetic analysis of a child with Culler-Jones syndrome due to variant of GLI2 gene.
Yanshi FAN ; Shuxia DING ; Junhua WU ; Haiyan QIU
Chinese Journal of Medical Genetics 2023;40(2):217-221
OBJECTIVE:
To explore the genetic basis for a child featuring short stature and postaxial polydactyly.
METHODS:
A child who presented at Ningbo Women & Children's Hospital in May 2021 due to the"discovery of growth retardation for more than two years" was selected as the subject. Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out for the child, and candidate variant was verified by Sanger sequencing of his family members.
RESULTS:
The child was found to harbor a heterozygous c.3670C>T (p.Q1224) variant of the GLI2 gene, which may lead to premature termination of protein translation. The variant was not detected in either parent.
CONCLUSION
The child was diagnosed with Culler-Jones syndrome. The c.3670C>T (p.Q1224*) variant of the GLI2 gene probably underlay the disease in this child.
Child
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Female
;
Humans
;
Fingers
;
Mutation
;
Nuclear Proteins/genetics*
;
Polydactyly/genetics*
;
Toes
;
Zinc Finger Protein Gli2/genetics*


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