Journal of Shanghai Jiao Tong University (Medical Science)

Adaptation and adaptability survey of the RUBI-PT program for autism spectrum disorders

LÜ Na, ZHANG Lingli, REN Fang, YANG Hanshu, LI Fei, XU Mingyu

2024, 44 (3): 291-300.
doi: 10.3969/j.issn.1674-8115.2024.03.001

Abstract ( 126 )

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Objective ·To explore the adaptation and adaptability of RUBI-PT (the Research Units in Behavioral Intervention Autism Network Parent Training) program in China. Methods ·According to the four steps of cultural adaptation, the RUBI-PT program was adapted, including information collection, preliminary adaptation design, preliminary adaptation test and further adjustment. In the information collection phase, six pediatricians and two psychotherapists were invited to conduct six focus group interviews, and according to the expert opinions, the RUBI-PT program was preliminarily adapted from the aspects of language, treatment format and treatment setting. In the preliminary adaptation test phase, 16 parents of autism spectrum disorder (ASD) children were recruited and divided into two batches to participate in the online RUBI-PT. After the treatment, the project feedback questionnaires were collected, and the adaptability was investigated and analyzed. Finally, the scheme was further adjusted according to the test results. Results ·The preliminary adaptation program of RUBI-PT was adjusted from individual training to group training, including eight core skills sessions, which were implemented in the form of online meetings. The preliminary test results showed that parents′ satisfaction with lesson progress, lesson process, completion of homework and comments to homework were 90%, 80%, 100% and 100%, respectively; in terms of the course difficulty, parents reported that the 7th session (functional communication training) and the 8th session (teaching skills) were the most difficult. Based on the above survey results and the opinions of the expert group, further adjustments were completed, and an adaptation program for localized RUBI-PT was ultimately formed. Conclusion ·After adaptation and adaptability investigation, the RUBI-PT, which is suitable for Chinese families with ASD children to conduct behavioral parent training, has been formed.

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Exploratory study of interferon regulatory factor 3 promoting proliferation and invasion related to colorectal cancer cells

XU Wenhui, YANG Chang, LI Ruiqing, BIAN Jing, LI Xiayi, ZHENG Leizhen

2024, 44 (3): 301-311.
doi: 10.3969/j.issn.1674-8115.2024.03.002

Abstract ( 134 )

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Objective ·To analyze the relationship between the expression level of interferon regulatory factor 3 (IRF3) in colorectal cancer and its clinicopathological features and prognosis, and to observe the effects of IRF3 overexpression on the proliferation and invasion ability of colorectal cancer cells and the related protein molecular pathways. Methods The Cancer Genome Atlas (TCGA) data were downloaded and used to analyze the correlation between expression levels of IRF3 and the prognosis of patients (including renal cell carcinoma, colorectal cancer, hepatocellular carcinoma, and prostate cancer). Immunohistochemistry was used to detect the differences in the expression levels of IRF3 between cancerous tissue and adjacent normal tissues of 10 patients with colorectal/renal cancer. The C-terminal residue sites of the IRF3 protein were modified to construct HEK-293T cells overexpressing the phosphorylated IRF3-5D (396/398/402/404/405-D). At 12 and 24 h of cell culture, treatment with TANK-binding kinase 1 (TBK1) inhibitor was performed, and Western blotting was used to detect the expression levels of IRF3 and p-IRF3 (Ser386) in the cells. RNA sequencing (RNA-seq) was employed to explore the correlation between high expression of IRF3-5D and the expression levels of tumor-related proteins. Colorectal cancer cells CT26 and COLON26 overexpressing wild-type IRF3 (IRF3-WT) and IRF3-5D were construct, and cell proliferation and migration ability were assessed by using cell counting, scratch assay, and clonogenic assay. Results ·Analysis of TCGA data suggested that the expression level of IRF3 protein in cancer tissues was positively correlated with poor prognosis in patients. Immunohistochemical analysis of pathological tissues from patients with cancer showed that the expression level of IRF3 was significantly upregulated in colorectal cancer tissues and renal cancer tissues, with protein expression concentrated in the cell nucleus. After treatment with TBK1 inhibitors for 12 and 24 h in cell culture, the expression of p-IRF3 (Ser386) protein in HEK-293T cells decreased. The results of RNA-seq and Western blotting showed that the expression levels of multiple proteins associated with poor prognosis [such as IRF9, programmed cell death 1-ligand 1 (PD-L1), etc.] were significantly upregulated under conditions of high expression of IRF3-5D. Overexpression of IRF3-5D in colorectal cancer cells could significantly enhance the proliferation and migration capabilities of cancer cells. Conclusion ·The expression level of IRF3 in colorectal cancer is positively correlated with poor patient prognosis. High expression of IRF3-5D protein in colorectal cancer cells can promote malignant biological behavior of cancer cells. Additionally, IRF3-5D is dependent on the TBK1-mediated activation of the IRF3 activation pathway and upregulates the expression levels of multiple tumor-related proteins.

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Expression and clinical significance of geranylgeranyl diphosphate synthase1 (GGPS1) in lung squamous cell carcinoma

WANG Xin, WANG Xiaoxia, LI Yanqing, ZHENG Yongxin, WU Jie, REN Meng, JIA Xiangdong, XU Tianxiang

2024, 44 (3): 312-324.
doi: 10.3969/j.issn.1674-8115.2024.03.003

Abstract ( 107 )

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Objective ·To investigate the expression and clinical significance of geranylgeranyl diphosphate synthase1 (GGPS1) in lung squamous cell carcinoma (LUSC) by bioinformatics and immunohistochemistry. Methods ·Firstly, the transcriptome data of LUSC tissues and paired normal tissues were downloaded from UCSC Xena platform. The data were standardized and differentially expressed by R language, and verified by UALCAN database. UALCAN and LinkedOmics databases were used to analyze the relationship between GGPS1 expression and clinicopathological features in LUSC patients. The Kaplan-Meier Plotter database was used to explore the effect of GGPS1 expression on prognosis in LUSC patients. The least absolute shrinkage and selection operator (LASSO) regression analyses were applied to screen gene correlation coefficients and risk scores. The diagnostic value of GGPS1 for LUSC was evaluated by nomogram and calibration curve. The protein-protein interaction (PPI) network of GGPS1 was constructed by using STRING and GeneMANIA databases. R language was used to select the differential genes related to GGPS1, and Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis were performed. The expression of GGPS1 in LUSC patients was detected by immunohistochemistry, and its correlation with clinicopathological features and prognosis was analyzed. Results ·Through the TIMER2.0 database, it was found that GGPS1 expression was increased in most tumors and was highly expressed in LUSC. The expression of GGPS1 in LUSC was higher than that in adjacent tissues in UCSC Xena and UALCAN databases (both P<0.05). It was found that the expression level of GGPS1 was higher in patients with late stage in UALCAN and LinkedOmics databases, and the overall survival (OS) of LUSC patients with high expression of GGPS1 was shorter (P<0.05) in the Kaplan-Meier Plotter database. Assessment of LUSC patients based on LASSO regression had good risk prediction efficacy. Constructing an individualised prediction model for LUSC patients has the best prediction accuracy. The results of GO and KEGG showed that GGPS1-related genes were mainly related to protein metabolism, regulation of lipid and cholesterol metabolism, nicotine addiction, phosphatidylinositol3-kinase (PI3K)/protein kinase B (AKT)/mammalian target of rapamycin (mTOR), peroxisome proliferator-activated receptors (PPAR) signaling pathway and so on. The metabolic function of GGPS1 may promote tumorigenesis. The results of immunohistochemistry showed that GGPS1 was mainly located in the cytoplasm, and the expression of GGPS1 in LUSC tissues was higher than that in adjacent tissues (P<0.05). The high expression of GGPS1 was related to tumor size, lymph node metastasis and TNM stage of LUSC patients (all P<0.05), and the OS of patients with high expression of GGPS1 was significantly shorter than that of patients with low expression (P=0.000). Multivariate Cox regression analysis suggested that GGPS 1 could be used as an independent prognostic factor for LUSC. Conclusion ·Compared with normal lung tissue, the expression of GGPS1 in LUSC is significantly increased, especially in patients with large tumor volume, positive lymph node metastasis and advanced stage. GGPS1 overexpression is an independent predictor of poor prognosis in LUSC patients. GGPS1 is expected to become a new molecular target for the diagnosis, treatment and prevention of LUSC.

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Study on the mechanism of trimethylamine oxide damaging cardiac function in mice with hypertrophic cardiomyopathy

JIN Bu, CHEN Hanzhang, XU Hudong, CHEN Wanyu, YUAN Ying, ZHAO Tingting, HUANG Xiaolei, HE Jialu, YU Hong

2024, 44 (3): 325-333.
doi: 10.3969/j.issn.1674-8115.2024.03.004

Abstract ( 88 )

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Objective ·To investigate the effects of trimethylamine oxide (TMAO) on cardiac function in mice with hypertrophic cardiomyopathy (HCM) and its potential molecular mechanism. Methods ·Mice with myosin heavy chain 6 (Myh6) c.1211G>A (p.R404Q^+/-) point mutation were used as the animal model. According to dietary supplementation of TMAO and TMAO inhibitor iodomethylcholine (IMC), the wild type (WT) mice and HCM mice were divided into WT group, HCM group (HCM-1 group, HCM-2 group), WT+TMAO group, HCM+TMAO group and HCM+IMC group, respectively. Left ventricular fraction shortening (FS) and left ventricular posterior wall thickness (LVPW) were assessed by echocardiography in all mice. Enzyme-linked immunosorbent assay (ELISA) was used to detect the serum TMAO concentration of mice in the HCM-1 group and WT group. The regularity of myocardial cell arrangement of mice was evaluated by hematoxylin and eosin staining (HE staining). The proportion of myocardial fibrosis was evaluated by Masson staining. The activity of protein kinase A (PKA) in mouse myocardial tissue was detected by PKA kit. The expression of ryanodine receptor 2 (RyR2) and p-RyR2(S2808) in mouse myocardial tissue was detected by Western blotting. Results ·The results of echocardiography showed that at 12 months of age, the FS of mice in the WT+TMAO group and HCM+TMAO group were lower than those in the corresponding WT group and HCM-1 group, respectively (P<0.05). The LVPW of mice in the HCM+TMAO group was higher than that in the HCM-1 group, while the LVPW of mice in the HCM+IMC group was lower than that in the HCM-2 group (P<0.05). ELISA results showed that the serum TMAO concentration of mice in the HCM-1 group was higher than that in the WT mice (P<0.05). The results of HE staining and Masson staining showed that the HCM+TMAO group had a lower degree of regular arrangement of cardiomyocytes and a higher proportion of fibrosis than the HCM-1 group, while the HCM+IMC group had a higher degree of regular arrangement of cardiomyocytes and a lower proportion of fibrosis than the HCM-2 group (P<0.05). The results of PKA assay showed that the PKA activity in the myocardial tissue of mice in the WT+TMAO group and HCM+TMAO group increased after TMAO treatment, while the PKA activity in the myocardial tissue of mice in the HCM+IMC group decreased (P<0.05). Western blotting results showed that the expression of p-RyR2(S2808) in the myocardial tissue of the WT+TMAO group and HCM+TMAO group mice increased, while it was decreased in the HCM+IMC group mice (P<0.05); however, there was no difference in RyR2 expression among the groups. Conclusion ·TMAO can increase the activity of PKA and induce the phosphorylation of RyR2 at S2808, which can cause ventricular remodeling and impair cardiac function in HCM mice.

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Predictive value of systemic immune inflammation index and somatic symptom scale-China in the occurrence of in-hospital major adverse cardiovascular events after first-episode of acute myocardial infarction undergoing PCI

ZHENG Mengyi, MAO Jialiang, ZOU Zhiguo, ZHANG Ruilei, ZHANG Hou, LI Shiguang

2024, 44 (3): 334-341.
doi: 10.3969/j.issn.1674-8115.2024.03.005

Abstract ( 75 )

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Objective ·To investigate the predictive value of systemic inflammatory index (SII) and somatization symptom score-China (SSS-CN) for major adverse cardiovascular events (MACEs) in patients with first-episode acute myocardial infarction (AMI) undergoing percutaneous coronary intervention (PCI). Methods ·Three hundred and five first-episode AMI patients who received PCI treatment at the Cardiology Department of Anhui Second People's Hospital from September 2021 to September 2023 were included in the study. Enrolled patients were divided into MACEs group (n=203) and non-MACEs group (n=102) based on whether MACEs events occurred during hospitalization. Descriptive statistical analysis was performed on the general data such as gender, age and laboratory test results of the two groups of patients, and binary Logistic regression test was conducted for statistically significant items according to the analysis results. According to the results, receiver operating characteristic (ROC) curves were further drawn to evaluate the value of SII and SSS-CN in predicting the occurrence of MACEs in hospital. On this basis, coronary syntax score (SS) was combined to evaluate the predictive efficacy of the three combinations, and the optimal cut-off value was determined according to the maximum Jordan index. Results ·A total of 203 patients had MACEs events, among whom 179 (88.1%) had heart failure, 16 (7.9%) had severe arrhythmia, 4 (2.0%) had shock, 2 (1.0%) had recurrent myocardial infarction, and 2 (1.0%) died. Compared with the non-MACEs group, the SII and SSS-CN scores in the MACEs group were significantly increased (1 925.86 vs 934.23, 38.57 vs 23.30; both P<0.05). The binary Logistic results suggested that both SII and SSS-CN were independent risk factors for the occurrence of MACEs. The ROC curve results showed that the prediction efficiency was the best when SII ≥ 952, with a sensitivity of 64.0% and a specificity of 62.7% (AUC 0.675, 95% CI 0.612?0.737). The prediction efficiency was the best when SSS-CN ≥ 28.5, with a sensitivity of 80.7% and a specificity of 77.5% (AUC 0.840, 95% CI 0.794?0.886). The predictive performance was further improved after combining the syntax score (AUC 0.898, 95% CI 0.862?0.933). Conclusion ·The admission SII and SSS-CN scores of first-episode AMI patients are independent risk factors for the occurrence of MACEs during hospitalization after PCI. Early monitoring of SII changes in first-episode AMI patients after PCI or SSS-CN scores for patients with obvious Somatization symptoms can help identify high-risk patients for the occurrence of MACEs in the hospital.

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Efficacy of smart wearable device BPMpathway in home rehabilitation of patients after total knee arthroplasty

HONG Yang, WANG Jie, ZHANG Xiafen, ZHAO Dan, CHENG Min

2024, 44 (3): 342-349.
doi: 10.3969/j.issn.1674-8115.2024.03.006

Abstract ( 124 )

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Objective ·To evaluate the effectiveness of the tele-rehabilitation program based on the smart wearable device BPMpathway in patients after total knee arthroplasty (TKA). Methods ·Convenience sampling method was used to select patients with knee osteoarthritis after TKA admitted to both the Department of Orthopedics in the Fourth Affiliated Hospital of Soochow University (Suzhou Dushu Lake Hospital) and The First Affiliated Hospital of Soochow University, from April 2021 to December 2022, as the study population. According to the sequence of the patients′ admissions, patients with an odd hospitalization number were allocated to the control group while those with an even number to the intervention group. The control group received the routine home-based rehabilitation training program, while the intervention group was additionally subjected to the tele-rehabilitation program based on the BPMpathway. At baseline, and 1 month, 3 months and 6 months after TKA, the two groups of patients were evaluated by the compliance scale of functional exercise for orthopedic patients, the Hospital for Special Surgery Scale (HSS), and 36-item Short Form Health Survey (SF-36), while the knee joint motion of the patients was measured. Results ·One hundred and ten patients with knee osteoarthritis after TKA were finally enrolled, including 56 patients in the control group and 54 patients in the intervention group. There were no statistically significant differences in the general information between the two groups. The differences in knee range of motion, HSS score, and SF-36 score between the two groups at baseline were not statistically significant. Repeated measurement variance analysis showed that the between-group effect, time effect and interaction effect of knee range of motion, functional exercise compliance score, HSS score and SF-36 total score were statistically significant in both groups (all P<0.05). Meanwhile, knee range of motion, HSS score, functional exercise compliance score, and SF-36 score in the intervention group were significantly better than those in the control group at 1, 3, and 6 months after TKA (all P<0.05). Conclusion ·The tele-rehabilitation training program, conducted by healthcare providers using the smart wearable device BPMpathway, can enhance patients′ compliance with functional exercise during home rehabilitation after TKA. This leads to increased knee mobility, contributes to the recovery of knee function and improves quality of life of the patients. All of these factors have a positive effect on the patient prognosis.

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Changes of serum high mobility group box 1 and soluble triggering receptor expressed on myeloid cells-1 in patients with multiple injuries and their prognostic significance

WANG Guijie, DU Chuanchong, LU Ye, ZHAO Jian, SHEN Xie, JIN Donglin, GENG Jiacai

2024, 44 (3): 350-357.
doi: 10.3969/j.issn.1674-8115.2024.03.007

Abstract ( 73 )

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Objective ·To detect the serum levels of high mobility group box 1 (HMGB1) and soluble triggering receptor expressed on myeloid cells-1 (sTREM-1) in patients with multiple injuries at different time points, and to analyze their correlation with disease severity, complications and prognosis. Methods ·Ninety-two patients with multiple injuries admitted to the Department of Emergency Medicine of the Suzhou Ninth People′s Hospital from December 2020 to December 2022 were selected. According to the injury severity scores of the patients at admission, the patients were divided into light injury group (n=24), grave injury group (n=58) and severe injury group (n=10). According to whether there was multiple organ dysfunction syndrome (MODS) after admission, the patients were divided into MODS group (n=20) and non-MODS group (n=72). According to the outcome within 28 d after trauma, the patients were divided into death group (n=13) and survival group (n=79). Inflammatory factor indicators in venous blood of patients after admission were detected. Enzyme linked immunosorbent assay (ELISA) was used to detect the serum HMGB1 and sTREM-1 levels at 24 h, 72 h and 7 d after trauma, and the differences of serum HMGB1 and sTREM-1 levels among different groups were analyzed. Multiple Logistic regression was used to analyze the influencing factors of adverse outcomes in patients with multiple injuries. The receiver operating characteristic (ROC) curve was used to evaluate the predictive value of HMGB1 and sTREM-1 for adverse outcomes. Results ·The levels of HMGB1 and sTREM-1 in the grave injury and severe injury groups were significantly higher than those in the light injury group (P<0.05). The levels of HMGB1 at 72 h and 7 d, and sTREM-1 at 24 h and 72 h in the severe injury group were significantly higher than those in the grave injury group (P<0.05). There was a positive correlation between HMGB1 and sTREM-1 levels at various time points (r=0.645, r=0.942, r=0.722; all P<0.05). The levels of HMGB1 at 72 h and 7 d, and sTREM-1 at 24 h and 72 h in the MODS group were significantly higher than those in the non-MODS group (all P<0.05). The levels of HMGB1 at 72 h and 7 d, and sTREM-1 at 24 h and 72 h in the death group were significantly higher than those in the survival group (all P<0.05). Logistic regression analysis showed that HMGB1 at 7 d, admission time and hypersensitive C-reactive protein (hs-CRP) were independent factors of adverse outcomes in patients with multiple injuries (all P<0.05). The ROC curve showed that the area under the curve of HMGB1 for predicting poor prognosis at 7 days after trauma was 0.890, the sensitivity was 83.5%, and the specificity was 92.3%. Conclusion ·The levels of HMGB1 and sTREM-1 are correlated with MODS and survival outcomes in patients with multiple injuries at different time points after trauma, and HMGB1 at 7 d after trauma is an independent factor affecting adverse outcomes in patients with multiple injuries.

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Relationship of screen time and dietary behaviors with depressive symptoms in junior high school students in five provinces in China

YANG Ruijun, LÜ Shuhong, LIU Zhiye, ZHANG Xin, LIU Zhihao

2024, 44 (3): 358-364.
doi: 10.3969/j.issn.1674-8115.2024.03.008

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Objective ·To explore the relationship of screen time and dietary behaviors with depressive symptoms in junior high school students in 5 provinces in China. Methods ·A total of 1 067 junior high school students were selected from Zhejiang and Guangdong in the eastern region, Jiangxi in the central region, Sichuan and Guizhou in the western region of China by using stratified random cluster sampling method for a questionnaire survey, which included general demographic characteristics, health behaviors, diatery behaviors, and depressive symptoms. Univariate analysis was used to analyze the report rates of depressive symptoms, daily screen time and dietary behaviors of the students with variant demographic characteristics, and Logistic regression analysis was used to analyze the relationship of daily screen time and dietary behaviors with depressive symptoms and the interaction effects as well. Results ·The report rate of depressive symptoms was 12.9% in the junior high school students in 5 provinces. The students who were in the western region, were not only children, had a weekly allowance of over 100 yuan, had smoked or consumed alcohol, had daily screen time≥2 h, or had unhealthy dietary behaviors, had higher reporting rates of depressive symptoms (P<0.05). A total of 15.2% students had daily screen time≥2 h, who had a higher reporting rate of depressive symptoms than the others after the confounding factors being adjusted (OR=1.89, 95%CI 1.22?2.95). A total of 29.5% of students had unhealthy dietary behaviors, who had a higher reporting rate of depressive symptoms than the others after the confounding factors being adjusted (OR=2.16, 95%CI 1.47?3.19). A total of 6.4% of students had both daily screen time≥2 h and unhealthy dietary behaviors, who had a higher reporting rate of depressive symptoms than the students having daily screen time<2 h and healthy dietary behaviors after the confounding factors being adjusted (OR=4.26, 95%CI 2.24?7.56). After adjusting for the confounding factors, the analysis of the interaction between daily screen time and dietary behaviors showed an additive interaction with the relative excess risk due to interaction (RERI) of 1.21 (95%CI 1.02?1.51), the attributable proportion due to interaction (AP) of 0.19 (95%CI 0.13?0.31), and the synergy index (S) of 1.35 (95%CI 1.12?1.69). Conclusion ·The junior high school students with both long screen time and unhealthy dietary behaviors are more likely to suffer from depressive symptoms in China; long screen time and unhealthy dietary behaviors have an additive interactive effect on depressive symptoms.

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Exploration of the use of antibiotics in a hospital based on point prevalence survey

WANG Kexuan, LIU Fang, TU Jiajia, MAO Yiping

2024, 44 (3): 365-372.
doi: 10.3969/j.issn.1674-8115.2024.03.009

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Objective ·To analyze the changes in the use of antibiotics in a tertiary hospital in Jiangsu Province, so as to provide reference for the improvement of antimicrobial drug management in the hospital. Methods ·The point prevalence survey was conducted to investigate the usage of antibiotics and nosocomial infection of Affiliated Hospital of Xuzhou Medical University on October 16, 2019, and September 15, 2022, respectively. The related data were summarized by Excel 16.0 and analyzed by SPSS 26.0 software. The related data were described by utilization rate and constituent ratio, and χ² test was used for comparative analysis. Results ·In 2019, a total of 474 patients were enrolled and their antimicrobial utilization rate was 48.1% on the day of the survey; in 2022, a total of 484 patients were enrolled and their antimicrobial utilization rate was 33.5% on the day of the survey. Compared with 2019, the rate of antibiotic usage in hospitalized patients showed an overall downward trend in 2022. The usage rate of only one antimicrobial agent increased from 38.6% to 82.7% (χ²=75.182, P=0.000), the usage rate of double therapy decreased from 40.8% to 14.2% (χ²=32.048, P=0.000), and the usage rate of quadruple therapy decreased from 14.0% to 0 (χ²=24.769, P=0.000). In 2019 and 2022, the usage rate of surgical prophylactic antibiotics was 61.5% and 88.1%, and the usage rate of two or more surgical prophylactic antibiotics was 38.5% and 11.9%, respectively. The usage rate of surgical prophylactic antibiotics in 2022 was higher than that in 2019 (χ²=27.297, P=0.000). The rate of antibiotic usage with medication records increased from 4.0% to 97.8% (χ²=695.523, P=0.000), and the rate of antibiotic withdrawal records increased from 22.4% to 91.0% (χ²=468.698, P=0.000). The rate of empirical usage of antibiotics by clinicians decreased from 47.3% to 35.8% (χ²=260.038, P=0.000), and the rate of antibiotic usage based on inflammatory indicators increased from 18.9% to 27.0% (χ²=505.637, P=0.000). The rate of antibiotics compliance increased from 88.6% to 92.1% (χ²=464.573, P=0.000). The most common type of nosocomial infection in 2019 and 2022 was pneumonia, accounting for 64.7% and 81.0%. Conclusion ·The level of antibacterial drug management in the hospital has been stable and improved, and the standardization of the usage of antibacterial drugs by medical staff has been improved. Hospital managers should improve the construction of information technology for rational use of antimicrobial drugs, emphasize departmental collaboration, and work together to formulate work plans to improve the rate of rational usage of antimicrobial drugs and enhance patient satisfaction.

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Advances in the study of neurovascular coupling in bone repair

HE Shuhang, GUO Shangchun, TAO Shicong

2024, 44 (3): 373-378.
doi: 10.3969/j.issn.1674-8115.2024.03.010

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Bone repair is a complex physiological process. The nerves within the bone can regulate bone tissue regeneration through the secretion of bioactive factors and interactions with cells within the bone. Recent studies have sought to leverage the principles of neurovascular coupling in the creation of bioactive materials, yielding promising results. This article reviews nerves and vessels within the bone, the role of neural signals in bone repair, and potential mechanisms of neurovascular coupling in bone repair, expecting to provide a thorough understanding on the function of neurovascular coupling in bone repair as well as fresh perspectives on the scientific research and clinical treatment of bone repair strategies.

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Research progress in pathophysiological and molecular mechanism changes during decompensated phase of portal hypertension in liver cirrhosis

FAN Qiang, WU Guangbo, ZHAO Jinbo, ZHENG Lei, LUO Meng

2024, 44 (3): 379-384.
doi: 10.3969/j.issn.1674-8115.2024.03.011

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Cirrhosis caused by multiple etiologies can lead to portal hypertension. The prognosis of patients with portal hypertension in decompensated cirrhosis is significantly poor. Disorders in the patient′s internal environment caused by various complications often evolve into organ failure both inside and outside the liver. For cirrhosis caused by different etiologies, there are still some relief drugs used in the early stages, but the mechanism of disease progression in patients with decompensated cirrhosis and portal hypertension is currently unclear, and there is a lack of effective treatment plans for disease progression. Therefore, revealing the pathophysiological mechanisms of decompensated cirrhosis with portal hypertension and seeking effective drug targets for treating this disease have become the focus of current research. This article summarizes the pathological and physiological changes of intrahepatic and extrahepatic organ failure during the decompensated phase of liver cirrhosis, and briefly describes the cellular and molecular regulatory mechanisms related to intrahepatic vascular resistance, portal system, cardiovascular system, and inflammatory mediators. By comprehensively analyzing the pathological and physiological development process of decompensated cirrhosis with portal hypertension, the potential cellular and molecular mechanisms that cause disease deterioration or remission can be better understood, which can help improve the accuracy of disease diagnosis and the correct grasp of disease staging. In addition, identifying drug treatment targets to block the progression of the disease will guide clinical staff to better cope with refractory portal hypertension, and even improve the prognosis of patients.

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Research progress in the anti-cancer activity and related mechanisms of arenobufagin

BAI Wenhui, SHEN Shukun, WU Yingli

2024, 44 (3): 385-392.
doi: 10.3969/j.issn.1674-8115.2024.03.012

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Toad venom is an active extract of toad, which is processed by distilling or drying at high temperature the venom secreted from the skin glands and ear-side glands of Toad Chinensis. As a natural product that has been used to treat diseases in China for thousands of years, toad venom has many pharmacological effects such as heart strengthening, analgesia, anti-myocardial ischemia, anti-endotoxin shock, and anti-cancer. Arenobufagin (ARE) is one of the main chemical components of toad venom, and its anti-cancer mechanism has been increasingly clarified in the past decade. ARE can play an anti-cancer role through a variety of ways, such as inducing apoptosis and/or autophagy of cancer cells, necrosis, and cell cycle arrest, inhibiting cancer cell migration and invasion, and inhibiting angiogenesis. The current research on ARE mainly focuses on the selective toxicity of cancer cells and the molecular mechanism of anti-cancer, mostly at the cellular and animal levels. Due to the large toxic and side effects of ARE, unclear targets and unclear pharmacokinetic characteristics, ARE has not yet entered the clinical application in Western medicine. This article summarizes relevant research results on the anti-cancer activity and molecular mechanism of ARE, and its combination with other anti-cancer drugs in order to provide a new direction for improving the anti-cancer mechanism of ARE.

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Progress in diagnosis and treatment of strabismus based on artificial intelligence technology

GUO Yonglin, CHEN Moxin, LIU Zheyuan, LI Yifei, WANG Ziqi, SHU Qin, LI Lin

2024, 44 (3): 393-398.
doi: 10.3969/j.issn.1674-8115.2024.03.013

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Strabismus, misalignment of the eyes arising from central nervous system dysregulation and extraocular muscles imbalance, commonly manifests in childhood, leading to amblyopia, binocular vision dysfunction, torticollis and other developmental and psychological disorders. This exerts a negative impact on individuals, families and society. Timely diagnosis and intervention are crucial to prevent permanent damage to vision and stereopsis. Presently, strabismus diagnosis is reliant on the ophthalmologists′ evaluations which results in a lack of efficiency and coverage. However, routine school screening proves inadequate in assessing strabismus degree with low accuracy. Therefore, how to improve the efficiency of strabismus screening is an issue of great importance. This paper delves into the present landscape of strabismus diagnosis and treatment, considering both local and global research advancements. It focuses on the evolution of artificial intelligence technology, illuminating the utilization of artificial intelligence models and algorithms in strabismus. By pinpointing and exploring their strengths and limitations, it offers valuable insights, paving the way for future investigations into artificial intelligence-assisted strabismus diagnosis and treatment.

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Advances in the treatment of intracranial neoplastic lesions in children with neurofibromatosis 1

LIU Meiling, ZHOU Yabing, WANG Xiaoqiang

2024, 44 (3): 399-406.
doi: 10.3969/j.issn.1674-8115.2024.03.014

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Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant genetic diseases of the nervous system, which occurs predominantly in children. It is a multi-system damage caused by genetic defects that cause abnormal development of neural crest cells. The penetrance of NF1 is almost 100%, and the main clinical features are cafe-au-lait spots on the skin and multiple neurofibromas in peripheral nerves. NF1 can lead to intracranial neoplastic lesions, which can be divided into low grade tumors, high grade tumors and tumor-like lesions according to pathology. Most intracranial tumors with NF1 are low grade tumors, and optic pathway gliomas are the most universal, followed by brainstem gliomas, but other types of low grade tumors can also occur on other sites. High grade tumors are uncommon. Although tumor-like lesions/ unidentified bright objects are not tumors, they are the most widespread intracranial abnormalities with partial tumor nature in NF1 children. These neoplastic lesions can be treated by observation, surgery, chemotherapy, radiotherapy, targeted therapy, etc. The best treatment for different lesions is different, and their prognosis is also distinct. At present, the treatment of intracranial neoplastic lesions of NF1 in children is still controversial. This article reviews the characteristics and treatment progress of this disease, aiming to improve the public′s awareness of NF1 neoplastic lesions, provide professional plans of diagnosis and treatment, and finally promote the perfect neurosurgical therapy of NF1 patients.

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High-throughput sequencing analysis of deletion mutation of TRAPPC2 in an X-linked spondyloepiphyseal dysplasia tarda pedigree

LIU Yu, WANG Huanhuan, XIAO Bing, TANG Lifang

2024, 44 (3): 407-411.
doi: 10.3969/j.issn.1674-8115.2024.03.015

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Objective ·To explore the pathogenic gene and the mutation type of a family with X-linked spondyloepiphyseal dysplasia tarda (SEDT). Methods ·Genomic DNA was extracted from the peripheral blood of 6 members of a SEDT family. Clearseq hereditary disease kit was applied to target pathogenic regions related to the rare hereditary diseases in the genomic sample of the proband, and then high-throughput sequencing and deletion of high-frequency variants were preformed. Copy number variant (CNV) was analyzed by using exome-hidden Markov model (XHMM). Real-time quantitative PCR was performed to further analyze the copy numbers of the gene deletion fragment in the 6 family members. Results ·High-throughput sequencing results showed that 2.5 kb fragment deletion existed in the chromosome X (chrX: 13 732 385?13 734 927) of the proband, which covered exon 4?6 of the transport protein particle complex subunit 2 (TRAPPC2) gene. The quantitative PCR results confirmed the proband and his male cousin carried the deficiency. The proband′s mother had a heterozygous deficiency, and the proband′s father, sister and the uncle with normal phenotypes all had normal copy numbers. Conclusion ·The fragment deletion of exon 4?6 of TRAPPC2 gene is the pathogenic mutation of SEDT, and the XHMM algorithm in high-throughput sequencing analysis can detect the deletion of multiple exons in pathogenic genes.

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A case report of hyperthyroidism with intolerance of oral medication with methimazole cream

XU Ting, ZHANG Yuwen

2024, 44 (3): 412-416.
doi: 10.3969/j.issn.1674-8115.2024.03.016

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An elderly male patient sought medical attention due to "intolerance of methimazole tablet and radioiodine treatment for six months". There was a contradiction between the efficacy and adverse drug reaction. Based on the patient′s wishes, the clinical treatment of methimazole cream was adopted. During the follow-up of 12 weeks, the patient′s symptoms were significantly improved, the indicators of thyroid function declined to normal level, and there were no significant abnormalities in indicators for routine blood test and liver function. The case broke away from conventions in medication selection, showing that the initial and reduced dosage was explored and formulated by combination of the theoretical basis of pharmacodynamics, pharmacokinetics and physician′s clinical experience. It also provided clinical reference for the use of the topical formulation.

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