1.Expert consensus on the application of artificial intelligence in lung cancer screening, diagnosis, and treatment (2026 edition)
Wenzhao ZHONG ; Haibo WANG ; Yi HU ; Hao ZHANG ; Jigang DAI ; Junqiang FAN ; Guibin QIAO ; Fan YANG ; Jian HU ; Fengwei TAN ; Xuening YANG ; Qiang PU ; Zihao CHEN ; Hongxia TIAN ; Lunxu LIU ; Hecheng LI ; Xiaolong YAN ; Zongyang YU ; Zhenbin QIU ; Yihua SUN ; Jing HU ; Yuhang SHI ; Zhifei GUO ; Peng ZHANG ; Kezhong CHEN ; Shugeng GAO ; Yilong WU
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2026;33(06):848-856
With the continuous deepening of the concept of precision diagnosis and treatment for lung cancer, how to achieve higher efficiency and accuracy in the screening, diagnosis, and treatment pathways in clinical practice has become an important issue that urgently needs to be overcome. The current clinical difficulty lies in the fact that despite continuous advancements in imaging and molecular diagnostic technologies, there are still limitations in manual efficiency and subjective experience when it comes to massive data analysis and multi-scale feature extraction. Artificial intelligence (AI), especially algorithm systems based on deep learning, is an innovative technology capable of deeply empowering medical big data. This method utilizes algorithms such as convolutional neural networks, combined with radiomics, pathomics, and multi-modal data fusion analysis, demonstrating immense potential in early precise detection and benign-malignant differentiation of pulmonary nodules, digital pathological subtype recognition and non-invasive prediction of driver genes, precise 3D surgical planning and automatic delineation of radiotherapy target volumes, as well as dynamic risk warning during follow-up. This innovative technology provides a brand-new solution for realizing intelligent and individualized lung cancer diagnosis and treatment models. This consensus, based on the latest evidence from evidence-based medicine and combined with the development trends in the AI field and real-world clinical needs, was ultimately formed by gathering the consensus opinions of multidisciplinary experts in radiology, pathology, thoracic surgery, and other fields. The main content covers the application specifications of AI in the three core scenarios of lung cancer screening, diagnosis, and treatment, the technical standards for data collection and algorithm validation, as well as the ethical and regulatory challenges faced at the current stage. It aims to clarify the applicable boundaries of AI as a clinical auxiliary decision support tool, providing scientific guidance and standardized exploration directions for peers currently engaged in or planning to carry out AI-assisted clinical diagnosis, treatment, and translation of lung cancer.
2.Efficacy Mechanism of Xianlian Jiedu Prescription Against Colorectal Cancer Recurrence vias Regulating Angiogenesis
Yanru XU ; Lihuiping TAO ; Jingyang QIAN ; Weixing SHEN ; Jiani TAN ; Chengtao YU ; Minmin FAN ; Changliang XU ; Yueyang LAI ; Liu LI ; Dongdong SUN ; Haibo CHENG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(6):79-87
ObjectiveTo explore effect of Xianlian Jiedu prescription on the recurrence of colorectal cancer (CRC) and investigate the related mechanisms. MethodsA postoperative recurrence model was established in 25 Balb/c mice by injecting CT26 cells subcutaneously into the armpit, followed by surgical removal of 99% of the subcutaneous tumor. The mice were randomly divided into model group, low-dose Xianlian Jiedu prescription (XLJDP-L) group (6.45 g·kg-1·d-1), medium-dose Xianlian Jiedu prescription (XLJDP-M) group (12.9 g·kg-1·d-1), high-dose Xianlian Jiedu prescription (XLJDP-H) group (25.8 g·kg-1·d-1), and 5-fluorouracil (5-FU) group (1×10-3 g·kg-1·d-1). The mice were euthanized after 14 days of continuous intervention, and recurrent tumor tissue was harvested. Hematoxylin and eosin (HE) staining was used to observe pathological and morphological changes in the recurrent tumor tissue. Immunohistochemistry (IHC) was employed to assess the expression of proliferating cell nuclear antigen (Ki67), vascular endothelial growth factor (VEGF), and platelet-endothelial cell adhesion molecule (CD31) in recurrent tumor tissue. The Western blot was used to detect the protein expression levels of angiopoietin-2 (ANG-2), VEGF, phosphorylated-protein kinase B (p-Akt), protein kinase B (Akt), phosphorylated-phosphatidylinositol 3-kinase (p-PI3K), and phosphatidylinositol 3-kinase (PI3K) in recurrent tumor tissue. ResultsBefore treatment, there were no statistical differences in tumor volume, tumor weight, and body mass among the XLJDP-L, XLJDP-M, and XLJDP-H groups and the 5-FU group compared to the model group, indicating model stability. After treatment, compared with those in the model group, the tumor volume and tumor weight in the XLJDP-L, XLJDP-M, and XLJDP-H groups and the 5-FU group were significantly reduced (P<0.01), showing dose dependency. Meanwhile, there were no significant differences in body weight among the XLJDP-L, XLJDP-M, and XLJDP-H groups and the 5-FU group compared to the model group. HE staining showed that compared with that in the model group, tumor tissue in the XLJDP-L, XLJDP-M, and XLJDP-H groups and the 5-FU group had loosely arranged cells, increased intercellular spaces, small and shriveled nuclei, light staining, fewer mitotic figures and atypical nuclei, and increased necrotic areas. IHC showed that compared with those of the model group, the positive rates of Ki67, VEGF, and CD31 in the recurrent tumor tissue of the XLJDP-L, XLJDP-M, and XLJDP-H groups and the 5-FU group were significantly reduced (P<0.01) in a dose-dependent manner. Western blot results showed that compared with those of the model group, the protein expression levels of ANG-2 and VEGF in the recurrent tumor tissue of the XLJDP-L, XLJDP-M, and XLJDP-H groups and the 5-FU group were significantly downregulated (P<0.05, P<0.01), and the p-Akt/Akt and p-PI3K/PI3K ratios were significantly decreased in a dose-dependent manner (P<0.05, P<0.01). ConclusionXianlian Jiedu prescription significantly inhibits the recurrence of CRC in mice after subcutaneous tumor surgery. The mechanism may involve regulating the PI3K/Akt pathway and downregulating key angiogenic proteins such as ANG-2, VEGF, and CD31.
3.Analysis of reoperation causes in unilateral biportal endoscopy for treating lumbar degenerative diseases
Yuquan LIU ; Guangpeng LI ; Xiang LI ; Bin ZHU ; Weiyang ZUO ; Haining TAN ; Ning LIU ; Qi FEI ; Haibo SUN ; Tianqi FAN ; Yong YANG ; Lingjia YU
International Journal of Surgery 2025;52(2):108-113
Objective:To analyze the reoperation rate and causes during the early adoption phase of unilateral biportal endoscopy (UBE).Methods:The clinical data of 180 patients who underwent UBE performed by a single surgeon at Beijing Friendship Hospital, Capital Medical University from October 2021 to June 2023 were retrospectively analyzed. Clinical and imaging data of patients who underwent reoperation were collected to analyze the causes of reoperation, and the clinical efficacy of the reoperations was also followed up. Measurement data were expressed as mean ± standard deviation ( ± s), and t-test was used before and after treatment. Results:A total of 180 patients who underwent UBE were included in this study, of which 6 patients underwent reoperation, and the reoperation rate was 3.33%. Among them, 3 cases occurred in the first 90 surgeries and the other 3 occurred in the subsequent 90 surgeries. The causes of reoperation were as follows: recurrent lumbar disc herniation at the same segment postoperatively in 2 cases, insufficient decompression in 2 cases, disc herniation following isolated decompression in 1 case, and immediate postoperative perianal numbness in 1 case. The time between the initial surgery and reoperation ranged from 0 to 187 days, with an average of 63.3 days. The average follow-up time after reoperation was 18.3 months. The visual analogue scale (VAS) and Oswestry disability index (ODI) scores of the patients at the last follow-up were significantly improved compared with those before operation (VAS score of low back pain: 5.2 ± 1.7 before operation, 1.2 ± 0.8 at the last follow-up, P<0.001; VAS score of leg pain: 7.2 ± 1.5 before operation, 1.2 ± 1.2 at the last follow-up, P<0.001; ODI score: 67.3 ± 5.7 before operation, 20.2 ± 8.2 at the last follow-up, P<0.001). The postoperative modified MacNab scores were generally satisfactory (4 cases were rated as excellent, accounting for 66.7%; 2 cases were rated as good, accounting for 33.3%). Except for one patient who experienced dural injury during open revision surgery, there were no serious complications such as nerve damage. Conclusions:In the early stages of UBE surgery, recurrent lumbar disc herniation and inadequate decompression are the primary reasons for reoperation, typically occurring within the first three months postoperatively. Reoperation does not significantly increase the risk of nerve injury. Enhanced early postoperative follow-up is recommended. For symptomatic patients, a second surgery with thorough decompression can yield satisfactory treatment outcomes.
4.Application of whole exome sequencing for the diagnosis of early-onset genetic diseases among infants aged 0 ~ 6 months.
Danyan ZHUANG ; Fei WANG ; Xiaoli PAN ; Qi YU ; Lulu YAN ; Changshui CHEN ; Haibo LI
Chinese Journal of Medical Genetics 2025;42(5):540-546
OBJECTIVE:
To assess the value of whole exome sequencing (WES) for the diagnosis of early-onset genetic diseases among infants aged 0 to 6 month in Ningbo region.
METHODS:
268 infants presented at the Women and Children's Hospital Affiliated to Ningbo University from January 2022 to June 2024 undergoing WES-based genetic testing were enrolled. Peripheral blood samples were collected from the infants and their parents and subjected to WES. Pathogenic variants were identified by clinical manifestations. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No. EC2023-017).
RESULTS:
Among the 268 infants, 124 (46.3%) had phenotype-explaining genetic variants. For 42 family-based WES tests, 20 (47.62%) were abnormal, whilst in 226 single-person WES tests, 104 (46.02%) had abnormalities, with 76 (33.63%) verified by parental testing. In 96 fully family-verified cases, 31 were de novo, 40 were parent-inherited, 25 were single-parent-inherited. These included 35 inborn metabolic errors, 28 rare syndromes, 9 neurodevelopmental disorders, 4 musculoskeletal diseases, 5 congenital deafness, 2 mitochondrial diseases, 4 endocrine diseases, and 9 others. Among these, there were 7 pathogenic copy number variations (all deletions), 3 chromosomal abnormalities, and 85 single-nucleotide variations. One case of Beckwith-Wiedemann syndrome was detected by methylation MLPA. Among the single-nucleotide variants, 114 pathogenic/likely pathogenic variants were identified in 61 genes, with common ones including missense variants (64.04%), frameshifting variants (20.18%) and splicing variants (4.39%).
CONCLUSION
WES can offer effective diagnosis for hereditary diseases with specific/non-specific manifestations. For early-age infants, higher detection rates may be attained for inborn metabolic errors, rare syndromes, neurodevelopmental disorders, congenital deafness, and musculoskeletal diseases. Compared with single-person WES, family-based WES can attain a higher diagnostic efficiency.
Humans
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Exome Sequencing/methods*
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Infant
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Female
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Male
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Infant, Newborn
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Genetic Diseases, Inborn/diagnosis*
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Genetic Testing/methods*
5.Deep learning-based automatic morphological assessment of the aortic root in bicuspid aortic valve patients before transcatheter aortic valve replacement
Guozhong CHEN ; Yu MAO ; Aiqing JI ; Yingsong HUO ; Qian CHEN ; Wei WANG ; Jian YANG ; Jian LIU ; Haibo ZHANG ; Chenming MA ; Yifei QU ; Hui XU ; Zhengcan WU
Chinese Journal of Radiology 2025;59(9):1029-1036
Objective:To explore the construction of an evaluation model for aortic root anatomy and calcium burden in patients with bicuspid aortic valve (BAV) stenosis before transcatheter aortic valve replacement (TAVR) based on deep learning (DL) algorithms.Methods:A retrospective collection of 362 BAV stenosis patients who underwent TAVR from September 2023 to May 2024 was performed. All patients underwent cardiac CT angiography. The patients were divided into training group ( n=104), internal validation group ( n=206), and external validation group ( n=52). A DL model was trained on the training dataset to assess aortic root anatomy and calcification burden. The evaluation included the segmentation accuracy of the algorithm, the measurement performance of key anatomical structures (i.e., valve leaflets and type-1 and type-2 fusion raphe), and calcification burden, as well as the measurement efficiency. Overall segmentation performance was assessed using the average Dice coefficient (ADC). The fine-scale segmentation quality was validated by the 95th-percentile Hausdorff distance (HD-95) and the average symmetric surface distance (ASSD). The consistency of the measurement results was assessed using the Pearson correlation coefficient and the intraclass correlation coefficient ( ICC) with a two-way mixed model for absolute agreement. In addition, the total time and total mouse movement distance required for manual assessment versus the DL model on the validation datasets were recorded and compared. Results:The algorithm demonstrated excellent segmentation performance on aortic root anatomical targets, achieving outstanding consistency within both internal and external validation datasets (0.955
6.Effect and mechanism of composite hydrogel loaded with human umbilical cord mesenchymal stem cell-derived exosomes in promoting knee cartilage regeneration
Yanchi BI ; Ding YUAN ; Liang ZHU ; Haibo ZHAO ; Fan JIANG ; Xiao XIAO ; Tengbo YU
Chinese Journal of Trauma 2025;41(8):778-788
Objective:To investigate the effect and mechanism of injectable photopolymerizable porous gelatin methacrylate anhydride (Porous GelMA)/methacrylated silk fibroin (SilMA) composite hydrogel (PSE) loaded with human umbilical cord mesenchymal stem cell-derived exosomes (hUCMSC-Exos) in promoting knee joint cartilage regeneration.Methods:The porous GelMA solution (60 g/L) was mixed with SilMA solution (200 g/L) at a volume ratio of 6∶1 . The mixture was ultraviolet-irradiated for 30 seconds to form a cured Porous GelMA/SilMA hydrogel (P/S6). The hUCMSC-Exos was isolated via differential centrifugation coupled with ultrafiltration and then was incorporated into the Porous GelMA/SilMA composite solution at 200 μg/ml, followed by ultraviolet irradiation for 30 seconds to generate Exos-loaded PSE. Primary rat chondrocytes (P1) were divided into control group, P/S6 group, and PSE group to characterize the porosity, compressive strength, and sustained exosome release kinetics of PSE hydrogel. Chondrocytes were allocated to control group, interleukin-1β (IL-1β) group, P/S6 group, and PSE group, among which the last three groups were preconditioned with 10 ng/ml IL-1β for 24 hours, and then cultured in complete medium, P/S6 extract and PSE extract for 3 days, respectively, to establish in vitro cartilage defect models, while the control group remained untreated. Western blot and qRT-PCR analysis were conducted to quantify the expression levels of antibody to aggrecan core protein (ACAN), sex-determining region Y-box transcription factor 9 (SOX9), matrix metalloproteinase-13 (MMP13) and collagen type II (COL II). Murine monocyte-macrophage leukemia cells (RAW264.7) were divided into control group, P/S6 group, and PSE group, which were then cultured in complete medium, PSE extract, and PSE extract medium for 3 days, respectively. qRT-PCR was employed to detect the expression levels of recombinant arginase-1 protein (ARG1), mannose receptor (CD206), and inducible nitric oxide synthase (iNOS). Transcriptomic sequencing was used to identify differentially expressed genes during PSE-mediated chondrocyte regeneration, followed by functional enrichment analysis of key signaling pathways. Twenty-four SD rats were selected to establish cartilage defect models and assigned to injury control group, P/S6 group, and PSE group according to the random number table (8 rats per group). The right knee joints of the rats were surgically exposed, and cylindrical osteochondral defects (a diameter of 2.0 mm× a depth of 1.0 mm) were surgically created in the center of the femoral trochlear groove using a drill bit. The injury control group received phosphate-buffered saline, while the P/S6 group and PSE group were injected with corresponding hydrogels followed by photo-crosslinking. Incisions then were closed in layers. At 6 and 10 weeks after injury, specimens were harvested for HE staining and safranin O-fast green staining to evaluate cartilage regeneration and immunohistochemistry staining to quantify the positive area fractions for COL II, MMP13, ARG1, and CD206 in the defect areas. Results:PSE hydrogel exhibited compressive strength matching native cartilage (0.41 MPa), high porosity (85%), and sustained exosome release capacity (cumulative release rate of approximately 85% over 14 days). In chondrocyte repair experiments, compared to the IL-1β group, the PSE group demonstrated significantly upregulated expression of anabolic markers of cartilage (COL II expression increased by 2.1-fold, ACAN by 1.8-fold, and SOX9 by 1.5-fold) ( P<0.01) as well as significantly suppressed expression of catabolic markers (MMP13 expression decreased by 52%) ( P<0.01). In macrophage polarization assays, the PSE group exhibited ARG1 expression increased by 68% when compared to the control group ( P<0.01), thus promoting M2 polarization of macrophages. Transcriptomic analysis revealed that PSE enhanced extracellular matrix (ECM) synthesis by activating the phosphatidylinositol 3-kinase/protein kinase B (PI3K/Akt) pathway and ECM-receptor interaction pathway, as well as by suppressing inflammation-related gene expression. Histological evaluation in animal experiments revealed regeneration of hyaline cartilage with smooth, continuous surfaces in the defect areas in the PSE group. At 10 weeks after surgery, the neocartilage-positive area in the PSE group was (9.94±0.26)%, significantly larger than (1.67±0.11)% in the injury control group ( P<0.01). Besides, the CD206? M2 macrophage-positive area reached (14.44±0.23)% in the PSE group, significantly larger than (3.41±0.36)% in the injury control group ( P<0.01). Conclusions:The PSE hydrogel successfully engineered in the study can significantly promote regenerative repair of knee cartilage defects through a dual mechanism of enhanced ECM anabolism and remodeled inflammatory microenvironment. The core mechanisms involve specific activation of the PI3K/Akt pathway (boosting chondrocyte proliferation and survival) and ECM-receptor interaction pathway (driving ECM synthesis and assembly) by exosome-loaded PSE, while effectively polarizing macrophages toward an anti-inflammatory M2 phenotype so as to coordinately regulate cartilage ECM metabolism and suppress inflammatory responses.
7.Construction and evaluation of a radiomics model for predicting perineural invasion in intrahepatic cholangiocarcinoma
Kai ZHANG ; Gengping ZHOU ; Yang XU ; Chenxi XIE ; Pengyu CHEN ; Yangyang WANG ; Taiyang CHEN ; Qingshan LI ; Bo MENG ; Haibo YU
Chinese Journal of Hepatobiliary Surgery 2025;31(11):817-822
Objective:To construct and evaluate a radiomics model for predicting perineural invasion in patients with intrahepatic cholangiocarcinoma (ICC).Methods:Clinical data of 144 patients with ICC undergoing surgery in the People’s Hospital of Zhengzhou University ( n=113) and the Affiliated Cancer Hospital of Zhengzhou University ( n=31) from January 2018 to June 2023 were retrospectively analyzed, including 80 males and 64 females, aged (58.8±10.1) years. The patients were randomly divided into a training set ( n=100) and a test set ( n=44) at a ratio of 7: 3. The former set was used to build the model for predicting perineural invasion, and the latter was used to evaluate the model. Enhanced CT images and clinical data of the patients were collected, and features related to perineural invasion were screened. A light gradient boosting machine was used to construct an imaging genomics model. The model was evaluated using the receiver operating characteristic (ROC) curve, calibration curve, and decision curve analysis (DCA). Results:Univariate and multivariate logistic regression analysis showed that none of the clinical features were associated with neural invasion in ICC patients (all P>0.05). Six, 25, 32, and 37 radiomics features were obtained by screening the intratumoral, 2 mm peritumoral, 5 mm peritumoral, and 8 mm peritumoral regions, respectively. The area under the ROC curve for predicting perineural invasion in ICC patients was 0.849 (95% CI: 0.774-0.923) in the training set and 0.745 (95% CI: 0.597-0.894) in the test set for the intratumoral model, 0.966 (95% CI: 0.938-0.995) and 0.750 (95% CI: 0.604-0.896) for the 5mm peritumoral model, 0.936 (95% CI: 0.892-0.980) and 0.792 (95% CI: 0.644-0.939) for the 2mm peritumoral model, and 0.961 (95% CI: 0.929-0.992) and 0.689 (95% CI: 0.526-0.853) for the 8mm peritumoral model. The area under the ROC curve, accuracy, sensitivity, and specificity of the combined intratumoral and 5mm peritumoral model for predicting perineural invasion were 0.927 (95% CI: 0.878-0.976), 88.0%, 84.5%, and 89.8% in the training set, and 0.849 (95% CI: 0.737-0.960), 77.3%, 85.2%, and 72.0% in the test set, respectively. The calibration curve showed a deviation between the calibration curve of the combined intratumoral and 5mm peritumoral model and the ideal line, but it could achieve basic consistency. DCA showed that when the threshold was between 0.18 and 0.70, the combined intratumoral and 5mm peritumoral model could bring clinical net benefit to patients when predicting neural invasion. Conclusion:The intratumoral and 5mm peritumoral imaging genomics model based on enhanced CT features can effectively predict neural invasion and offer clinical benefits in patients with ICC.
8.Research on the value of AHP-risk analysis management strategy in management for medical equipment of hospital
Shenglei BAI ; Haibo LING ; Ximei YU ; Jing WU
China Medical Equipment 2025;22(5):127-132
Objective:To study the application value of analytic hierarchy process(AHP)-risk analysis management strategy in management for medical equipment of hospital,so as to improve utilization efficiency of equipment.Methods:A decision model of managing equipment was established by adopting AHP-risk analysis management strategy,and Entropy method was used to optimize and improve the combined weight of AHP algorithm,so as to obtain the comprehensive weight of classification decision for medical equipment.The equipment was classified into high risk,second highest risk,medium risk,second lowest risk and low risk to receive different management strategy.A total of 103 medical equipment in clinical use at People's Hospital of Xinjiang Uygur Autonomous Region from January 2023 to February 2024 were selected,and the conventional management method was adopted to manage these equipment during January 2023 and July 2024,and AHP-risk analysis management strategy was adopted to manage them during August 2023 and February 2024.The differences of the management effects of medical equipment in clinical use,and technical support for equipment between two management methods were compared.Results:The average use rate,rate of growth amplitude of cost-effectiveness,and rate of growth amplitude of social benefit of equipment of using the AHP risk analysis management method were respectively(95.34±3.75)%,(7.65±2.18)%,and(10.81±2.42)%,all of which were higher than those of the conventional management method.However,the average relative operating rate and relative turnover rate of using the AHP risk analysis management method were respectively(9.26±2.46)%and(10.63±2.07)%,all of which were lower than those of the conventional management method,and the differences were statistically significant(t=9.223,24.681,17.813,15.764,18.873,P<0.05).The average self-repair rate,upgrade efficiency,and coincidence rate of scrapping equipment of using the AHP-risk analysis management method were respectively(91.54±4.25)%,(94.52±3.77)%,and(93.53±4.72)%,all of which were higher than those of the conventional management method.However,the average failure rate of that was(0.74±0.38)%,which was lower than the average failure rate of the conventional management method,and the differences of them were statistically significant(t=8.445,9.624,14.046,22.794,P<0.05).Conclusion:The AHP-risk analysis management strategy can improve the management effect of clinical use of medical equipment,and the technical support for medical equipment,and enhance usage and maintenance efficiency of equipment,and achieve refined management for medical equipment.
9.Ten new lignans with anti-inflammatory activities from the leaves of Illicium dunnianum.
Ting LI ; Xiaoqing HE ; Dabo PAN ; Xiaochun ZENG ; Siying ZENG ; Zhenzhong WANG ; Xinsheng YAO ; Wei XIAO ; Haibo LI ; Yang YU
Chinese Journal of Natural Medicines (English Ed.) 2025;23(8):990-996
The anti-inflammatory phytochemical investigation of the leaves of Illicium dunnianum (I. dunnianum) resulted in the isolation of five pairs of new lignans (1-5), and 7 known analogs (6-12). The separation of enantiomer mixtures 1-5 to 1a/1b-5a/5b was achieved using a chiral column with acetonitrile-water mixtures as eluents. The planar structures of 1-2 were previously undescribed, and the chiral separation and absolute configurations of 3-5 were reported for the first time. Their structures were determined through comprehensive spectroscopic data analysis [nuclear magnetic resonance (NMR), high-resolution electrospray ionization mass (HR-ESI-MS), infrared (IR), and ultraviolet (UV)] and quantum chemistry calculations (ECD). The new isolates were evaluated by measuring their inhibitory effect on NO in lipopolysaccharide (LPS)-stimulated BV-2 cells. Compounds 1a, 3a, 3b, and 5a demonstrated partial inhibition of NO production in a concentration-dependent manner. Western blot and real-time polymerase chain reaction (PCR) assays revealed that 1a down-regulated the messenger ribonucleic acid (mRNA) levels of tumor necrosis factor α (TNF-α), interleukin-6 (IL-6), COX-2, and iNOS and the protein expressions of COX-2 and iNOS. This research provides guidance and evidence for the further development and utilization of I. dunnianum.
Lignans/isolation & purification*
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Plant Leaves/chemistry*
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Anti-Inflammatory Agents/isolation & purification*
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Mice
;
Animals
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Molecular Structure
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Plant Extracts/pharmacology*
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Illicium/chemistry*
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Cyclooxygenase 2/immunology*
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Interleukin-6/immunology*
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Nitric Oxide/metabolism*
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Cell Line
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Tumor Necrosis Factor-alpha/immunology*
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Nitric Oxide Synthase Type II/immunology*
;
Lipopolysaccharides
10.Application of whole exome sequencing for the diagnosis of early-onset genetic diseases among infants aged 0 ~ 6 months
Danyan ZHUANG ; Fei WANG ; Xiaoli PAN ; Qi YU ; Lulu YAN ; Changshui CHEN ; Haibo LI
Chinese Journal of Medical Genetics 2025;42(5):540-546
Objective:To assess the value of whole exome sequencing (WES) for the diagnosis of early-onset genetic diseases among infants aged 0 to 6 month in Ningbo region.Methods:268 infants presented at the Women and Children′s Hospital Affiliated to Ningbo University from January 2022 to June 2024 undergoing WES-based genetic testing were enrolled. Peripheral blood samples were collected from the infants and their parents and subjected to WES. Pathogenic variants were identified by clinical manifestations. This study has been approved by the Medical Ethics Committee of the Hospital (Ethics No. EC2023-017).Results:Among the 268 infants, 124 (46.3%) had phenotype-explaining genetic variants. For 42 family-based WES tests, 20 (47.62%) were abnormal, whilst in 226 single-person WES tests, 104 (46.02%) had abnormalities, with 76 (33.63%) verified by parental testing. In 96 fully family-verified cases, 31 were de novo, 40 were parent-inherited, 25 were single-parent-inherited. These included 35 inborn metabolic errors, 28 rare syndromes, 9 neurodevelopmental disorders, 4 musculoskeletal diseases, 5 congenital deafness, 2 mitochondrial diseases, 4 endocrine diseases, and 9 others. Among these, there were 7 pathogenic copy number variations (all deletions), 3 chromosomal abnormalities, and 85 single-nucleotide variations. One case of Beckwith-Wiedemann syndrome was detected by methylation MLPA. Among the single-nucleotide variants, 114 pathogenic/likely pathogenic variants were identified in 61 genes, with common ones including missense variants (64.04%), frameshifting variants (20.18%) and splicing variants (4.39%). Conclusion:WES can offer effective diagnosis for hereditary diseases with specific/non-specific manifestations. For early-age infants, higher detection rates may be attained for inborn metabolic errors, rare syndromes, neurodevelopmental disorders, congenital deafness, and musculoskeletal diseases. Compared with single-person WES, family-based WES can attain a higher diagnostic efficiency.

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