1.Awareness of nutrition and health knowledge among residents aged 18-64 in Shanghai from 2022 to 2023
Fanlin ZHAO ; Jiajie ZANG ; Zhengyuan WANG ; Zhuo SUN ; Qi SONG
Journal of Environmental and Occupational Medicine 2026;43(1):76-81
Background In recent years, the National Health Commission of China organized surveys on the awareness of nutrition and health knowledge among Chinese adults aged 18 to 64. Shanghai, as a core sample with benchmark significance in terms of economic level, geographical location, and population structure, still lacks sufficient real-time and effective research data. Objective To estimate the awareness rate of nutrition and health knowledge of Shanghai residents aged 18-64 in Shanghai from 2022 to 2023, identify shortcomings in nutritional health knowledge and potential influencing factors to clarify the core issues that need to be addressed urgently. Methods According to the questionnaire and scoring standard designed by the National Institute of Nutrition and Health of Chinese Center for Disease Control and Prevention, a stratified random sampling strategy was employed by urban/rural areas, regions, age, and gender and considering invalid questionnaires and refusal rates. Therefore, 1680 residents were selected in 4 survey sites in Shanghai. The survey subjects were grouped according to gender, marital status, age, education level, and occupation. t-test or analysis of variance was used to compare the average scores of nutritional health knowledge among different groups of respondents; chi-square test was used to analyze the awareness rate of nutritional health knowledge among respondents in different groups; and binary logistic regression was used to analyze the influencing factors. Results The nutrition and health knowledge score among Shanghai residents aged 18–64 was 73.45 ± 11.51, with an awareness rate of 53.14%. The food characteristics category had the lowest correct response rate at 66.39%. The mean scores of different genders were significantly different (t=−2.12, P=0.034), and the female group had higher scores than the male group. Significant differences in average scores and awareness rates were observed among age (F=10.95, P < 0.001; χ2=24.62, P < 0.001), educational level (F=46.01, P < 0.001; χ2=119.34, P < 0.001) , and industry groups (F=10.97, P < 0.001; χ2=56.30, P < 0.001). The logistic model showed that better knowledge awareness of nutrition and health in residents with high school, technical school, and above education (OR=1.959−3.622) than those with primary education or below; and worse in argo-food processing industry; manufacturing industry; agriculture, forestry, animal husbandry, and fishery; and other occupational residents than those in medical and health institutions (OR=0.458-0.504). Conclusion At present, residents’ understanding of food characteristics is particularly weak. Education level and occupation are the key factors influencing residents’ awareness rate of nutrition and health knowledge. Targeted and effective measures should be taken to improve the nutritional quality of residents.
2.Jianpi Yiqi Prescription Inhibits Proliferation and Invasion of Hepatic Carcinoma Cells by Targeting PTPN1
Shanshan SUN ; Jing HONG ; Shufan SONG ; Zongxi SUN ; Chao WANG ; Shaoyuan ZHUO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(3):80-88
ObjectiveTo investigate the key targets of Jianpi Yiqi prescription (JYP) in the treatment of hepatocellular carcinoma (HCC) based on network pharmacology and explore the effect of JYP on the invasion and proliferation of hepatocellular carcinoma cells via protein tyrosine phosphatase, non-receptor type 1 (PTPN1) by bioinformatics analysis and CRISPR/Cas9. MethodsThe potential targets of JYP in the treatment of HCC were retrieved from the Traditional Chinese Medicine Systems Pharmacology Database and Analysis Platform (TCMSP), SwissTargetPrediction, GeneCards, NCBI, and CTD. Additionally, the active components of JYP that could interact with PTPN1 were screened out, and then molecular docking between the targets and active components was performed in Autodock 4.0. UALCAN, HPA, and LinkedOmics were used to analyze the expression of PTPN1 in the HCC tissue, and the relationship of PTPN1 expression with the overall survival (OS) of HCC patients was discussed. CRISPR/Cas9 was used to knock down the expression of PTPN1 in HepG2 and SK-hep-1 cells, and the knockdown effect was examined by sequencing, Real-time PCR, and Western blot. HepG2 cells were classified into blank control, low-, medium-, and high-dose JYP (5.25, 10.5, 21 g·kg-1), and PTPN1 knockout groups. Real-time PCR and Western blot were employed to determine the mRNA and protein levels, respectively, of PTPN1 in HepG2 cells of each group. The effects of JYP and PTPN1 knockdown on the proliferation, invasion, and apoptosis of HepG2 cells were detected by Cell Counting Kit-8 (CCK-8), Transwell, and Annexin V-FITC/PI methods, respectively. ResultsJYP had the most active components targeting PTPN1, and 31 of the active components had the binding energy less than -5.0 kcal·mol-1 in molecular docking. The mRNA and protein levels of PTPN1 in the HCC tissue were higher than those in the normal tissue (P<0.01). Compared with that in the normal tissue, the mRNA level of PTPN1 in the HCC tissue was up-regulated at the pathological stages Ⅰ-Ⅲ and grades G1-G3 (P<0.01), and it was not significantly up-regulated at the stage Ⅳ or grade G4. The mRNA level of PTPN1 in the TP53-mutated HCC tissue was higher than that in the TP53-unmutated HCC tissue (P<0.01). The high mRNA level of PTPN1 was associated with the OS reduction (P<0.01). After treatment with the JYP-containing serum or knockdown of PTPN1, HepG2 cells demonstrated decreased proliferation and invasion and increased apoptosis (P<0.01). ConclusionPTPN1 may be one of the core targets of JYP in the treatment of HCC. It is highly expressed in the HCC tissue and cells, which is associated with the poor prognosis of patients. The expression level of PTPN1 is significantly up-regulated in the HCC tissue of the patients with TP53 mutation. However, TP53 mutation or deletion does not affect the expression of PTPN1 in HCC cells. JYP can significantly down-regulate the expression of PTPN1 to inhibit the proliferation and invasion and promote the apoptosis of HCC cells.
3.Clinical phenotypic and genetic analysis of three children with Paroxysmal kinesigenic dyskinesia and Self-limited familial infantile epilepsy caused by PRRT2 gene mutation.
Dandan SONG ; Xiaoyi PENG ; Yao WANG ; Aojie CAI ; Sapana TAMANG ; Huaili WANG ; Zhihong ZHUO
Chinese Journal of Medical Genetics 2025;42(3):292-299
OBJECTIVE:
To investigate the clinical phenotypic and genetic characteristics of three children with Paroxysmal kinesigenic dyskinesia (PKD) and Self-limited familial infantile epilepsy (SeLIE) caused by PRRT2 gene mutation.
METHODS:
Three children with PKD and SeLIE caused by PRRT2 gene mutation (children 1-3) who were treated in the First Affiliated Hospital of Zhengzhou University from November 2022 to August 2023 were selected as the research subjects. A retrospective study was conducted to collect the clinical and family history data of the three children. 2 mL of peripheral venous blood from children 1-3 and parents of children 1-2 were collected (parents of children refused to undergo genetic testing and no blood samples were collected), genomic DNA was extracted, whole exome sequencing (WES) was performed, and Sanger sequencing method was used for verification. According to the Classification Standards and Guidelines for Genetic Variants formulated by the American Society of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines"), the pathogenicity of the variant loci detected in three children was rated, and the detrimental loci of the variant loci were analyzed by multiple bioinformatics software. This study has been approved by the Ethics Committee of the First Affiliated Hospital of Zhengzhou University (Ethics No. 2024-KY-0881-002).
RESULTS:
The clinical data and genetic test results of the three children in this study are as follows. Child 1: female, age of onset of 4 months and 10 days, with seizures, manifested as sudden cessation of movements, staring in both eyes, cyanosis of the lips, paleness, and stiffness and shaking of limbs. The results of genetic testing showed that child 1 had maternal PRRT2 gene c.583_584dup (p.P196Afs*34) frameshift variant, which was rated as a pathogenic variant (PVS1 PM2_Supporting PP4) according to ACMG guidelines. According to the clinical manifestations and genetic test results of child 1, he was diagnosed with SeLIE and took oral sodium valproate [0.5 mL/(kg.d)], and was still taking medication at the follow-up of 2 years old, and did not have seizures again after 5 months of age. Child 2: male, age of onset of 10 years old, manifested as dystonia after sudden movement. The results of genetic testing showed that child 2 had PRRT2 gene mutations: paternal c.649dupC (p.R217Pfs*8) frameshift variant and maternal c.445C>A (p.Q149K) mutation. Among them, c.649dupC was a reported pathogenic variant, and according to ACMG guidelines, c.445C>A variant was rated as a variant of unknown clinical significance (PM2_Supporting), with a high probability of benignness. According to the clinical manifestations and genetic test results of the child 2, he was diagnosed with PKD, and was followed up with oral oxcarbazepine 9 mg/(kg.d) until 12 years and 2 months, and was still on the drug, and there was no recurrence of the seizure of the form of dyskinesia after taking the drug. Child 3: male, age of onset of 11 years old, manifested by dystonia after sudden exercise. The results of genetic testing showed that child 3 had a missense variant of PRRT2 gene c.904G>C (p.D302H), and his parents refused genetic testing, and the source of the mutation was unknown, and the variant was rated as a variant of unknown clinical significance (PM2_Supporting+PP3_Moderate+PP4) according to ACMG guidelines. According to the clinical manifestations and genetic test results of child 3, he was diagnosed with PKD, and was treated with oral oxcarbazepine 10 mg/(kg.d) for 1 year and then discontinued on his own, and was followed up at the age of 17, and there was no recurrence of the seizure of the form of movement disorder after taking the drug.
CONCLUSION
One case of SeLIE and two cases of PKD caused by PRRT2 gene mutations responded well to anti-seizure drugs. In this study, four variant loci of PRRT2 gene were found: c.583_584dup, c.904G>C, c.649dupC, c.445C>A, among which c.583_584dup were new variants, enriching the variant spectrum of PRRT2 gene.
Humans
;
Male
;
Nerve Tissue Proteins/genetics*
;
Female
;
Membrane Proteins/genetics*
;
Mutation
;
Child, Preschool
;
Infant
;
Phenotype
;
Dystonia/genetics*
;
Retrospective Studies
;
Child
4.Clinical features and genetic analysis of a child with Christianson syndrome due to variant of SLC9A6 gene.
Xiaoyi PENG ; Dandan SONG ; Yao WANG ; Aojie CAI ; Sapana TAMANG ; Huaili WANG ; Zhihong ZHUO
Chinese Journal of Medical Genetics 2025;42(4):411-418
OBJECTIVE:
To analyze the clinical characteristics and genetic etiology of a child with Christianson syndrome (CS).
METHODS:
A 1-year-and-5-month-old boy with CS diagnosed at the First Affiliated Hospital of Zhengzhou University in April 2021 was selected as the study subject. Clinical data were retrospectively analyzed. Peripheral blood samples were obtained from the child and his parents, followed by genomic DNA extraction and whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing. This study has been approved by the Medical Ethics Committee of the Hospital of Zhengzhou University (Ethics No. 2024-KY-1103-001).
RESULTS:
The child has manifested with seizures, microcephaly, and global developmental delay. WES revealed that he has harbored a novel de novo hemizygous nonsense variant of the SLC9A6 gene, namely c.1014G>A (p.W338*). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic.
CONCLUSION
The hemizygous c.1014G>A nonsense variant of the SLC9A6 gene probably underlay the pathogenesis in this child. Above discovery has expanded mutational spectrum of the SLC9A6 gene and enabled definite diagnosis of the child.
Humans
;
Male
;
Infant
;
Microcephaly/genetics*
;
Spasms, Infantile/genetics*
;
Sodium-Hydrogen Exchangers/genetics*
;
Exome Sequencing
;
Intellectual Disability/genetics*
;
Genetic Diseases, X-Linked/genetics*
;
Mutation
;
Seizures/genetics*
;
Ataxia
;
Epilepsy
;
Ocular Motility Disorders
5.Construction of prognostic risk model for renal cell carcinoma based on lactate metabolism-related genes and analysis of immune characteristics of renal cell carcinoma
Zhijia SUN ; Zhuo SONG ; Xu LIU ; Xiaoli KANG ; Xinji LI ; Yingjie WANG
Chinese Journal of Microbiology and Immunology 2025;45(11):949-957
Objective:To construct a prognostic risk model based on lactate metabolism-related genes screened using bioinformatics methods in renal cell carcinoma patients,and investigate the clinical prognosis and immune characteristics of renal cell carcinoma.Methods:Gene expression data and clinical information of patients with renal cell carcinoma were downloaded from the Cancer Genome Atlas-Kidney Renal Clear Cell Carcinoma(TCGA-KIRC)dataset. Lactate metabolism-related gene sets were obtained from the Gene Set Enrichment Analysis(GSEA)database. The R package DEseq2 was employed to identify differentially expressed genes associated with lactate metabolism within the TCGA-KIRC dataset. GO and KEGG enrichment analyses were performed using the clusterProfiler package. Prognosis-related genes were screened via univariate Cox regression analysis and the intersection with lactate metabolism-related differentially expressed genes was obtained. A risk model was constructed using LASSO regression followed by multivariate Cox regression analysis to calculate risk scores. This risk model was subsequently validated using the GSE29609 dataset. Patients were stratified into high-risk and low-risk groups based on the median risk score. The expression profiles of key immune molecule genes and immune checkpoint genes were compared between the two groups. Survival analysis curves for immune checkpoint genes were generated using the survival and survminer R packages. Differences in tumor mutation burden(TMB)between the high-risk and low-risk groups were assessed,and corresponding TMB survival analysis curves were plotted. Finally,the tumor immune dysfunction and exclusion(TIDE)algorithm was used to evaluate disparities in immunotherapy response potential between the two risk groups.Results:An optimal prognostic risk model incorporating seven lactate metabolism- and prognosis-related genes( LDHD,PER2,ACADM,FLI1,LIPA,TCIRG1,SLC25A4)was constructed and successfully validated in the GSE29609 dataset. Univariate Cox regression analysis revealed that a high-risk score was significantly associated with poor prognosis( HR=2.915,95% CI:2.451-3.470, P<0.001). Multivariate Cox regression analysis confirmed that this risk model could serve as an independent prognostic factor for patients with renal cell carcinoma( HR=2.231,95% CI:1.829-2.722, P<0.001). Patients in the high-risk group exhibited significantly worse outcomes compared to the low-risk group,regardless of whether they had early-stage or advanced-stage renal cell carcinoma(both P<0.001). Analyses related to the immune microenvironment indicated an upregulated immunosuppressive phenotype in the high-risk group. Furthermore,the TMB was significantly higher in the high-risk group than in the low-risk group( P=0.032),and patients within the high-risk group exhibiting higher TMB levels demonstrated even poorer survival( P<0.001). Finally,the TIDE score was significantly elevated in the high-risk group in comparison to the low-risk group( P<0.001). Conclusions:The risk model based on lactate metabolism-related genes constructed in this study can guide the prognosis of renal cell carcinoma. Patients in the high-risk group are more prone to immune escape and formation of an inhibitory immune microenvironment,leading to worse prognoses. This risk model may serve as a biomarker for predicting immunotherapy response.
6.Early clinical outcomes of 3D-printed individualised customised prostheses in hip revision combined severe bone defect.
Hong-Ping WANG ; Ming-You WANG ; Xiao-Qin YANG ; Zhuo-Dong TANG ; Xun-Zhou SONG ; Yu-Ping LAN
China Journal of Orthopaedics and Traumatology 2025;38(2):163-169
OBJECTIVE:
To explore the early clinical outcomes of 3D printed individualised customised prostheses for in hip revision in patients with combined severe bone defects.
METHODS:
Twenty-two patients from January 2021 to May 2023 underwent hip revision using 3D printed personalised customised prostheses were retrospective analyzed, including 10 males and 12 females, age 28 to 78 with a mean of (58.9±12.8) years old. All of patients were combined with severe bone defects (Parprosky type Ⅲ). Among of them, 9 patients had periprosthetic infections and 13 patients had aseptic prosthesis loosening. All patients were treated with a 3D printed personalised prosthesis protocol, patients with the periprosthetic infection received a second stage revision after infection control. The operation time, preoperative waiting time, intraoperative and postoperative complications were recorded, and the clinical efficacy were evaluated at the final follow-up using the visual analogue scale (VAS) for pain, the Harris hip score.
RESULTS:
One patient was lost to follow-up and the remaining 21 patients were followed up for 10 to 15 with a mean of (12.91±1.44) months after surgery. All patients completed surgery as planned, with an operative time of 135 to 390 with a mean of (165.4±39.3) minutes and a preoperative waiting time of 7 to 16 with a mean of (10.5±3.3) days. Regarding patient complications:one patient had a severe intraoperative periprosthetic femoral fracture due to the combination of severe osteoporosis; one patient had an intraoperative greater trochanteric femur fracture. At the latest follow-up, all patients had good position of the custom-made prosthesis and no loosening of the prosthesis;all patients had good wound healing and no local redness or swelling. The total Harris score at the final follow-up (85.86±7.04) was significantly improved compared to the preoperative (44.86±2.36), P<0.001. The VAS at the last follow-up (2.19±0.87) was significantly improved compared with preoperative (7.41±0.96), P<0.001.
CONCLUSION
The clinical efficacy of 3D-printed personalised customised prosthesis in combined severe bone defect hip revision is satisfactory, but due to the increased preoperative waiting time of the patients and certain risks, certain indications should be mastered when applying in the clinic.
Humans
;
Male
;
Female
;
Printing, Three-Dimensional
;
Middle Aged
;
Aged
;
Adult
;
Retrospective Studies
;
Hip Prosthesis
;
Arthroplasty, Replacement, Hip
;
Reoperation
;
Prosthesis Design
;
Treatment Outcome
7.Comparison of application and efficacy of domestic HURWA and imported Smith & Nephew Cori robots in total knee arthroplasty.
Ming-You WANG ; Zhuo-Dong TANG ; Yu-Ping LAN ; Heng XIAO ; Ming-Li WANG ; Xun-Zhou SONG ; Hong-Ping WANG
China Journal of Orthopaedics and Traumatology 2025;38(10):1027-1036
OBJECTIVE:
Investigation on the clinical application of HURWA robot and Smith & Nephew Cori robot in total knee arthroplasty(TKA).
METHODS:
A retrospective analysis was performed on 84 patients with knee osteoarthritis who underwent robotic-assisted TKA (RATKA) between June 2023 and March 2025. According to the different robotic systems used, the patients were divided into the domestic HUARUN robotic-assisted total knee arthroplasty group (HRATKA group) and the Smith & Nephew Cori robotic-assisted total knee arthroplasty group (CRATKA group). There were 42 patients in the HRATKA group, including 16 males and 26 females; the age ranged from 56 to 73 years old, with an average of (64.70±8.30) years old;the body mass index (BMI) was (25.10±2.30) kg·m-2;21 cases were on the right side and 21 cases on the left side;in terms of Kellgren-Lawrence(K-L) classification, there were 15 cases of Grade Ⅲ and 27 cases of Grade Ⅳ;the disease duration ranged from 3 to 25 years, with an average of (15.5±7.5) years. The CRATKA group also included 42 patients, with 14 males and 28 females;the age ranged from 58 to 74 years old, with an average of (65.60±7.50) years old;the BMI was (24.50±2.70) kg·m-2; 20 cases were on the right side and 22 cases on the left side;regarding K-L classification, there were 11 cases of Grade Ⅲ and 31 cases of Grade Ⅳ;the disease duration ranged from 2 to 26 years, with an average of (16.5±8.8) years. Collect general data of all patients, including age, gender, height, weight, surgical site, K-L classification, incision length, and operation time. To evaluate prosthesis position, compare the frontal tibia component (FTC) angle, lateral femoral component (LFC) angle, lateral tibia component (LTC) angle, and frontal femoral component angle between the two groups of patients after surgery. Measure the deviation of the hip-knee-ankle (HKA) angle to assess lower limb alignment. Additionally, compare the following indicators between the two groups:Knee Society Score (KSS), Visual Analogue Scale (VAS) for pain, knee range of motion (ROM), hemoglobin (HB) level, hematocrit (HCT) level, complication rate, and in-hospital satisfaction.
RESULTS:
All patients successfully completed the surgery as scheduled, and all were followed up after the operation. The follow-up period ranged from 5 to 17 months with an average of (11.2±6.1) months. There were 4 cases of venous thrombosis in the HRATKA group and 3 cases in the CRATKA group;each group had 2 cases of wound exudation. No mechanical-related complications, pulmonary embolism, or other severe complications occurred. Comparison of the incision length and hospital stay between the HRATKA group and the CRATKA group showed no statistically significant difference (P>0.05). The operation time in the HRATKA group was (96.80±7.10) minutes, which was longer than that in the CRATKA group (90.10±8.80) minutes, and the difference was statistically significant (P<0.05). In the HRATKA group, the HKA angle was (178.93±1.11) degree, the FFC angle was (89.00±0.91)°, and the LFC angle was (7.31±2.17) degree;the corresponding values in the CRATKA group were (178.05±1.34)°, (87.88±1.74)°, and (10.60±2.84) degree respectively. The differences in these three indicators between the two groups were all statistically significant (P<0.05). However, there were no statistically significant differences in the FTC angle or LTC angle between the two groups (P>0.05). There was also no statistically significant difference in the total perioperative blood loss between the two groups (P>0.05). At 3 days after surgery, the VAS score for movement in the HRATKA group (5.95±1.45) points was higher than that in the CRATKA group (4.50±0.97) points, with a statistically significant difference (P<0.05);at 90 days after surgery, there was no statistically significant difference in the movement VAS score between the two groups (P>0.05). Additionally, no statistically significant differences were observed between the two groups in the KSS, ROM at 3 and 90 days after surgery, or satisfaction degree during hospitalization (all P>0.05).
CONCLUSION
The domestic HURWA robot demonstrates excellent performance in osteotomy efficiency and lower limb alignment recovery. The Smith & Nephew Cori robot has a significant advantage in soft tissue assessment and joint stability optimization. Both robotic systems offer high-quality surgical treatments that significantly improve short-term knee function.
Humans
;
Male
;
Female
;
Arthroplasty, Replacement, Knee/instrumentation*
;
Aged
;
Middle Aged
;
Retrospective Studies
;
Robotic Surgical Procedures/methods*
;
Osteoarthritis, Knee/surgery*
8.Analysis of Risk Factors for Mortality of Children with Severe Aplastic Anemia after Allogeneic Hematopoietic Stem Cell Transplantation.
Yan CHEN ; Hao XIONG ; Zhi CHEN ; Na SONG ; Li YANG ; Fang TAO ; Li YANG ; Zhuo WANG ; Yu DU ; Ming SUN
Journal of Experimental Hematology 2025;33(3):886-891
OBJECTIVE:
To analyze the factors associated with mortality after allogeneic hematopoietic stem cell transplantation (allo-HSCT) in children with severe aplastic anemia (SAA).
METHODS:
The clinical data of 90 children with SAA who received allo-HSCT in the Department of Hematology, Wuhan Children's Hospital Affiliated to Tongji Medical College, Huazhong University of Science and Technology from August 2016 to July 2023 were collected. The clinical features and causes of death were analyzed retrospectively. Cox proportional hazards model was used to screen the risk factors of death.
RESULTS:
Only 9 children died with a median time of 6.3(2.6, 8.3) months among the 90 children with SAA after allo-HSCT. Among the 5 deaths due to infection, 3 were pulmonary infection, including 2 cases of cytomegalovirus pneumonia. One case developed septic shock due to gastrointestinal infection. One case experienced graft failure, which was complicated by bloodstream infection, and developed septic shock. Three cases died of transplantation-associated thrombotic microangiopathy (TA-TMA). One case died of gastrointestinal graft-versus-host disease (GVHD). The results of multivariate analysis showed that post-transplant +60 d PLT≤30×109/L (HR=7.478, 95%CI : 1.177-47.527, P =0.033), aGVHD Ⅲ-Ⅳ (HR=7.991, 95%CI : 1.086-58.810, P =0.041), and TA-TMA occurrence (HR=13.699, 95%CI : 2.146-87.457, P =0.006) were independent risk factors for post-transplant mortality.
CONCLUSION
Allo-HSCT is an effective therapy for SAA in children. Post-transplant +60 d PLT≤30×109/L, aGVHD Ⅲ-Ⅳ, and TA-TMA occurrence are independently associated with post-transplant mortality, which may be helpful for early detection of potential high-risk children and optimization of clinical diagnostic and treatment strategies.
Humans
;
Anemia, Aplastic/therapy*
;
Hematopoietic Stem Cell Transplantation/adverse effects*
;
Risk Factors
;
Retrospective Studies
;
Child
;
Transplantation, Homologous
;
Male
;
Female
;
Graft vs Host Disease
;
Child, Preschool
;
Proportional Hazards Models
;
Adolescent
;
Infant
9.A Case Report of Lung Adenocarcinoma with EGFR G719A Mutation and LMNA-NTRK1 Fusion.
Shiqi SONG ; Yaxian YANG ; Weiquan LUO ; Yueya LIANG ; Qi LI ; Tongxu ZHUO ; Weibin XIONG ; Jian HUANG
Chinese Journal of Lung Cancer 2025;28(1):75-80
Fusion variations of neurotrophic receptor tyrosine kinase (NTRK) are oncogenic drivers in various solid tumors such as breast cancer, salivary gland carcinoma, infant fibrosarcoma, etc. Gene rearrangements involving NTRK1/2/3 lead to constitutive activation of the tropomyosin receptor kinase (TRK) domain, and the expressed fusion proteins drive tumor growth and survival. NTRK fusions are estimated to occur at a frequency of approximately 0.1% to 1% in non-small cell lung cancer (NSCLC). Epidermal growth factor receptor (EGFR) mutations are prevalent in NSCLC, but the frequency of EGFR G719A mutation is relatively low (about 2%), and EGFR mutations are typically mutually exclusive with NTRK fusion variants. The study presented the first documented case of lung adenocarcinoma harboring both EGFR G719A mutation and LMNA-NTRK1 fusion. A review of the literature was conducted to elucidate the role of NTRK fusion mutations in NSCLC and their relationship with EGFR mutations, aiming to enhance the understanding of NTRK fusion mutations in NSCLC.
.
Humans
;
Adenocarcinoma/genetics*
;
Adenocarcinoma of Lung
;
ErbB Receptors/genetics*
;
Lamin Type A/genetics*
;
Lung Neoplasms/genetics*
;
Mutation
;
Oncogene Proteins, Fusion/genetics*
;
Receptor, trkA/metabolism*
10.Zedoarondiol Inhibits Neovascularization in Atherosclerotic Plaques of ApoE-/- Mice by Reducing Platelet Exosomes-Derived MiR-let-7a.
Bei-Li XIE ; Bo-Ce SONG ; Ming-Wang LIU ; Wei WEN ; Yu-Xin YAN ; Meng-Jie GAO ; Lu-Lian JIANG ; Zhi-Die JIN ; Lin YANG ; Jian-Gang LIU ; Da-Zhuo SHI ; Fu-Hai ZHAO
Chinese journal of integrative medicine 2025;31(3):228-239
OBJECTIVE:
To investigate the effect of zedoarondiol on neovascularization of atherosclerotic (AS) plaque by exosomes experiment.
METHODS:
ApoE-/- mice were fed with high-fat diet to establish AS model and treated with high- and low-dose (10, 5 mg/kg daily) of zedoarondiol, respectively. After 14 weeks, the expressions of anti-angiogenic protein thrombospondin 1 (THBS-1) and its receptor CD36 in plaques, as well as platelet activation rate and exosome-derived miR-let-7a were detected. Then, zedoarondiol was used to intervene in platelets in vitro, and miR-let-7a was detected in platelet-derived exosomes (Pexo). Finally, human umbilical vein endothelial cells (HUVECs) were transfected with miR-let-7a mimics and treated with Pexo to observe the effect of miR-let-7a in Pexo on tube formation.
RESULTS:
Animal experiments showed that after treating with zedoarondiol, the neovascularization density in plaques of AS mice was significantly reduced, THBS-1 and CD36 increased, the platelet activation rate was markedly reduced, and the miR-let-7a level in Pexo was reduced (P<0.01). In vitro experiments, the platelet activation rate and miR-let-7a levels in Pexo were significantly reduced after zedoarondiol's intervention. Cell experiments showed that after Pexo's intervention, the tube length increased, and the transfection of miR-let-7a minics further increased the tube length of cells, while reducing the expressions of THBS-1 and CD36.
CONCLUSION
Zedoarondiol has the effect of inhibiting neovascularization within plaque in AS mice, and its mechanism may be potentially related to inhibiting platelet activation and reducing the Pexo-derived miRNA-let-7a level.
Animals
;
MicroRNAs/genetics*
;
Exosomes/drug effects*
;
Plaque, Atherosclerotic/genetics*
;
Neovascularization, Pathologic/genetics*
;
Human Umbilical Vein Endothelial Cells/metabolism*
;
Humans
;
Blood Platelets/drug effects*
;
Apolipoproteins E/deficiency*
;
Thrombospondin 1/metabolism*
;
CD36 Antigens/metabolism*
;
Platelet Activation/drug effects*
;
Male
;
Mice
;
Mice, Inbred C57BL

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