1.Novel autosomal dominant syndromic hearing loss caused by COL4A2 -related basement membrane dysfunction of cochlear capillaries and microcirculation disturbance.
Jinyuan YANG ; Ying MA ; Xue GAO ; Shiwei QIU ; Xiaoge LI ; Weihao ZHAO ; Yijin CHEN ; Guojie DONG ; Rongfeng LIN ; Gege WEI ; Huiyi NIE ; Haifeng FENG ; Xiaoning GU ; Bo GAO ; Pu DAI ; Yongyi YUAN
Chinese Medical Journal 2025;138(15):1888-1890
2.Application of domestic single-port robotic surgical system in thyroid cancer.
Qian MA ; Sicheng ZHANG ; Longyue ZHANG ; Jinyuan LIU ; Ronghao SUN ; Yuqiu ZHOU ; Linjie MA ; Chunyan SHUI ; Yongcong CAI ; Chao LI
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(11):1044-1047
Objective:To explore the feasibility and preliminary efficacy of domestic single-port robotic surgical system in the surgical treatment of thyroid cancer. Methods:Thyroid cancer patients who underwent domestic single-port robotic surgery in the Department of Head and Neck Surgery of Sichuan Cancer Hospital from June 2024 to January 2025 were prospectively included. Clinical data, oncological characteristics, and perioperative indicators were systematically collected. Results:A total of 7 patients were included, including 3 males and 4 females, with an age of (34.57±10.26) years. All procedures were successfully completed without conversion to open surgery. Operative time was(180.00±30.41) minutes. Blood loss was(5.00[15.00 ])mL. Postoperative drainage volume was (167.86±130.95) mL. The postoperative pathological results were all thyroid papillary carcinoma. There were no system failures, no device-related complications and adverse events were observed during the operation and perioperative period. No tumor recurrence or metastasis was observed during the follow-up period. Conclusion:Preliminary data indicate that the domestic single-port robotic surgical system is safe and feasible for the surgical treatment of thyroid cancer, providing a practical basis for subsequent multi-disease, multi-center, and large-sample studies.
Humans
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Thyroid Neoplasms/surgery*
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Robotic Surgical Procedures/instrumentation*
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Male
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Female
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Adult
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Thyroidectomy/methods*
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Operative Time
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Middle Aged
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Prospective Studies
3.Deciphering the significant impact of natural glycosylation on human insulin.
Yaohao LI ; Wenqiang LIU ; Dan LIU ; Ruihan WANG ; Yajing ZHANG ; Xin LI ; Jinyuan GONG ; Shiying SHANG ; Zhongping TAN
Acta Pharmaceutica Sinica B 2025;15(11):5880-5890
In the century-long evolution of insulin pharmaceuticals, each transformative advancement in this drug class has been closely tied to the ability to obtain new insulin isoforms for research. Despite this, the recently discovered naturally occurring isoforms of glycosylated human insulin have remained largely unattainable for proper characterization. Herein, we demonstrate for the first time that total chemical synthesis can be used to generate all isoforms. This achievement required maintaining the correct positions of the interchain disulfide bonds while effectively removing protecting groups on complex glycans. Notably, the availability of seven glycoforms reveals the important effects of natural sialylated glycans in suppressing insulin self-association and enhancing its solubility, surpassing the performance of currently employed rapid-acting insulin drugs. This work not only offers a readily adaptable platform for exploring natural O-glycosylation in other therapeutic proteins and peptides but also lays the groundwork for further research into harnessing natural glycosylation for therapeutic applications.
4.Xanthones from Garcinia pedunculata and Garcinia nujiangensis and their anti-inflammatory activity.
Xiaojie FAN ; Yufeng JIA ; Jiaxin GUO ; Jinyuan YANG ; Dahong LI ; Huiming HUA
Chinese Journal of Natural Medicines (English Ed.) 2025;23(2):225-233
Ten novel xanthones, garpedunxanthones A-G (1-5, 6a/6b, 7a/7b) and nujiangxanthone Q (8), along with sixteen known analogs (9-24), were isolated from Garcinia pedunculata and G. nujiangensis. Their structures were elucidated through high-resolution electrospray ionization mass spectrometry (HR-ESI-MS) data, comprehensive nuclear magnetic resonance (NMR) spectroscopic analyses, and electronic circular dichroism (ECD) calculations. All compounds without cytotoxicity were assessed for anti-inflammatory properties by measuring the inhibition of nitric oxide (NO) production in lipopolysaccharide (LPS)-induced RAW264.7 cells. Structure-activity relationships are also discussed. Compounds 7b, 19, and 21 exhibited significant anti-inflammatory activity with IC50 values of 16.44 ± 0.69, 14.28 ± 0.78, and 10.67 ± 3.28 μmol·L-1, respectively. Enzyme-linked immunosorbent assay (ELISA) demonstrated that compounds 7b, 19, and 21 inhibited the expression of pro-inflammatory cytokines TNF-α and IL-6 in a dose-dependent manner. The inhibitory effect of compound 21 on IL-6 at 20 μmol·L-1 was comparable to that of the positive control. In network pharmacology studies, potential targets of compounds and inflammation were identified from PharmMapper and GeneCards databases. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis revealed that the overlapped targets were intricately associated with major pathogenic processes linked to inflammation, including positive regulation of mitogen-activated protein kinase (MAPK) cascade, protein kinase activity, NO synthase regulator activity, MAPK signaling pathway, and EGFR tyrosine kinase inhibitor resistance.
Xanthones/therapeutic use*
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Garcinia
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Anti-Inflammatory Agents/therapeutic use*
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Plant Preparations/therapeutic use*
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Structure-Activity Relationship
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Nitric Oxide/metabolism*
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RAW 264.7 Cells
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Animals
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Mice
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Enzyme-Linked Immunosorbent Assay
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Mitogen-Activated Protein Kinase Kinases/metabolism*
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Circular Dichroism
5.Research progress on morphology of macular foveal avascular zone in ocular diseases based on optical coherence tomography angiography measurement
Jinyuan SUI ; Haoru LI ; Yang BAI ; Bei DU ; Ruihua WEI
International Eye Science 2024;24(1):48-52
The foveal avascular zone(FAZ)is the most sensitive region of the retina, which is interconnected by the macular capillary plexus. Its morphology can indirectly reflect the alterations of macular microcirculation. With strong repeatability and reliability, optical coherence tomography angiography(OCTA)can non-invasively visualize and quantify the FAZ. The great value of OCTA makes it an important supplemental examination tool in ophthalmology and other professions. The area and perimeter of FAZ have been demonstrated to be an effective clinical diagnostic indicator in high myopia, diabetic retinopathy, glaucoma and other ocular diseases. In recent years, the geometry of FAZ has also proven to have clinical value. The parameters describing the geometry of FAZ, such as circularity index, acircularity index and axial ratio, provide a new perspective for ocular disease research. The comprehensive investigation of the morphological characteristics of the FAZ is helpful to explore the pathological mechanism of the occurrence and development of ocular diseases, predict preclinical changes, make pathological stages of the disease precise, and provide a theoretical basis for monitoring the disease's progression and assessing patients' visual prognosis.
6.Study on influencing factors of neurobehavioral development in young children suspected of developmental delays
Xiaoman LI ; Lijuan HUANG ; Xiao WANG ; Zumin LIU ; Runmin GUO ; Xueyan NONG ; Xiujuan HUANG ; Jinyuan ZHU ; Yanting CHEN ; Jinlin DU
Acta Universitatis Medicinalis Anhui 2024;59(7):1244-1250
Objective To investigate the neurobehavioral development of young children aged 24 to 60 months in Shunde and explore the factors influencing the development of young children and provide reference for the interven-tion of neurobehavioral development delays in young children.Methods A retrospective cohort study was used to enroll the young children who were initially screened by the Pediatric Neuropsychological Developmental Scale(Pe-diatric Heart Scale)with a score of ≤85 was included in the study.With a score of ≤85,the young children might be at risk of developmental delays,and needed to be further diagnosed by the GESELL Developmental Diagnostic Scale,the basic information of the young children and their mothers at the time of birth were investigated,as well as basic information about the young children at the time of completing the GESELL Developmental Diagnostic Scale was collected.Results A total of 271 young children were included,196 males and 75 females.Young children had the lowest developmental quotient(DQ)in the language domain among the five domains(P<0.001).Multiple lin-ear regression models showed:compared with girls,the language domain DQ of boys decreased by 5.321 points(P=0.049,95%CI:-10.620--0.021),and the personal-social domain DQ decreased by 4.474 points(P=0.023,95%CI:-8.316--0.631).Compared with young children via natural vaginal delivery(NVD),the gross motor domain DQ of young children via caesarean section(CS)decreased by 4.890 points(P=0.008,95%CI:-8.499--1.281),the fine motor domain DQ decreased by 3.373 points(P=0.037,95%CI:-6.532--0.213),the language domain DQ decreased by 7.621 points(P=0.004,95%CI:-12.826--2.416),per-sonal-social domain DQ decreased by 6.232 points(P=0.001,95%CI:-10.006--2.457).The results of bi-nary logistic regression models showed,compared with young children via NVD,the risk of gross motor domain retar-dation in young children increased(OR=1.763,95%CI:1.003-3.100),the risk of fine motor domain retardation increased(OR=2.217,95%CI:1.235-3.980),the risk of language domain retardation increased(OR=3.306,95%CI:1.080-10.124).Conclusion Young children with suspected neurobehavioral delays were more likely to have delayed development in language domain than in other domains,boys had lower DQ in language domain and personal-social domain than girls,and the development of young children via CS was slower than that via NVD.Fo-cus should be on the language development of young children especially on the language and personal-social devel-opment of boys.Carefully chose delivery way.Focus should be placed on assessment of young children's comprehen-sive neurobehavioral development in early time.
7.Phenotypic and genetic analysis of a Chinese pedigree affected with Hereditary antithrombin deficiency due to a novel variant of SERPINC1 gene
Yingying CHEN ; Yating YAO ; Ting LI ; Kuangyi SHU ; Xiao YANG ; Shanshan LI ; Xiaoou WANG ; Jinyuan WANG ; Ting ZHANG ; Minghua JIANG
Chinese Journal of Medical Genetics 2024;41(3):312-316
Objective:To analyze the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Hereditary antithrombin deficiency.Methods:A pedigree diagnosed at the the Second Affiliated Hospital of Wenzhou Medical University, Yuying Children’s Hospital in June, 2020 was selected as the study subject. Plasma prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), and thrombin time (TT) of the probands and their pedigree members were determined using a STA-R automatic coagulation analyzer. Antithrombin activity (AT: A) and antithrombin antigen (AT: Ag) in plasma were determined with chromogenic substrate and immunonephelometry assays. All exons and flanking sequences of the anticoagulant protein gene SERPINC1 were amplified by PCR and subjected to Sanger sequencing. Candidate variants were verified with bioinformatic tools (PolyPhen-2, SIFT, Mutation Taster and PYMOL) to explore their effect on the function and structural conformation of the protein. Results:The probands (Ⅱ 2, Ⅱ 10), their brother (Ⅱ 5) and sons (Ⅲ 1, Ⅲ 8) had shown normal PT, APTT, FIB, and TT, but significantly decreased AT: A and AT: Ag, with their levels being 34%, 57%, 56%, 48%, 53% and 13.51 mg/dL, 13.44 mg/dL, 18.39 mg/dL, 17.36 mg/dL, 17.71 mg/dL, respectively. The remaining pedigree members had normal values. Sanger sequencing revealed that the probands and all affected pedigree members had harbored a heterozygous c. 851T>C (p.Met284Thr) missense variant in exon 5 of the SERPINC1 gene. Bioinformatic analysis and simulation suggested that the variant has resulted in alteration of hydrogen bonds at the c. 851 position, which may affect the structure of the protein. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as pathogenic (PS1+ PM1+ PM5+ PP1+ PP4). Conclusion:The probands and other affected members were all diagnosed with type I hereditary AT deficiency, for which the c. 851 T>C (p.Met284Thr) variant of the SERPINC1 gene may be accountable.
8.Research progress on the interaction between macro-phages and fibroblasts in ARDS pulmonary fibrosis
Aiqin LI ; Zhen ZHANG ; Ya'nan XU ; Jinyuan ZHU ; Xu ZHANG
The Journal of Practical Medicine 2024;40(4):571-574
Acute respimtory distress syndrome(ARDS)is an acute diffuse inflammatory lung injury caused by various internal and external lung injury factors.It has complex pathogenesis,rapid onset and high mortality,which seriously endangers human life and health.Pulmonary fibrosis is one of the important pathologic processes of ARDS occurrence and development,and it is also an important cause of death in ARDS patients.To a certain extent,the severity of pulmonary fibrosis in ARDS is determined by the dynamic balance of macrophage-fibroblast interactions.Therefore,this article aims to review the interaction mechanism of macrophage-fibroblasts in the pro-cess of ARDS pulmonary fibrosis,and provide new methods and ideas for the diagnosis and treatment of ARDS pul-monary fibrosis.
9.Advances in the changes of choroidal thickness and blood flow under the in-tervention of myopia prevention and control measures
Jinyuan SUI ; Haoru LI ; Fang LIN ; Ruihua WEI
Recent Advances in Ophthalmology 2024;44(11):903-907
Myopia shows a trend of high incidence and low age,and the number of high myopia patients is increasing year by year.Safe and effective myopia intervention measures are the top priority of myopia prevention and control.It has been found that low-dose atropine,orthokeratology,repeated low-level red light and other treatment methods have reliable efficacy,which can provide a variety of options for myopia prevention and control in children.The choroid,as an impor-tant anatomical structure of the fundus,is closely related to the mechanism of myopia.Choroidal parameters may become markers for evaluating the effect of myopia prevention and control and monitoring the progression of myopia.With the con-tinuous development of medical imaging technology,choroidal thickness and microcirculatory parameters have been accu-rately quantified.Further exploration of the changes of choroid under various myopia intervention measures will help clini-cians design personalized treatment plans for different patients,which is of great clinical significance for the management of myopia prevention and control.In this article,the research progress on choroidal thickness and blood flow changes under different myopia prevention and control measures are reviewed.
10.Cytokines expression in intraocular fluid in neovascular glaucoma: a meta-analysis
Shuqing ZHU ; Jinyuan CHEN ; Mengtian ZHOU ; Jie DU ; Shuxia XU ; Haoyu LI ; Yuanbo LIANG
Chinese Journal of Experimental Ophthalmology 2024;42(6):538-546
Objective:To systemically evaluate the characteristics of cytokine levels in intraocular fluid of neovascular glaucoma (NVG).Methods:Literature on the detection of cytokine levels in NVG published before June 2022 was searched in PubMed, Embase, Web of Science, China National Knowledge Infrastructure (CNKI), Wanfang databases, and China Science and Technology Journal Database (VIP).Two investigators independently completed the literature search, inclusion, and data extraction following the inclusion and exclusion criteria.Quantitative analyses were performed using Stata 16.0 software.Study heterogeneity was assessed using the I2 test, and effects were combined using the appropriate effect model to complete the meta-analysis. Results:A total of 24 studies were screened, including 771 NVG cases and 727 age-related cataract cases (control group).The standardized mean difference ( SMD) of the combined effect value of vascular endothelial growth factor (VEGF) mass concentration in the aqueous humor between the two groups was 8.79, with a 95% confidence interval ( CI) of 6.43 to 11.14.The SMD of interleukin-6 (IL-6) between the two groups was 12.50, with a 95% CI of 9.41 to 15.58.The VEGF and IL-6 levels in aqueous humor and vitreous humor were significantly higher in NVG group than in control group (all at P<0.05).The pigment epithelium-derived factor (PEDF) level in aqueous humor was lower in NVG group than in control group ( SMD: -3.03, 95% CI: -5.50--0.55, P<0.05).The levels of IL-8 ( SMD: 3.99, 95% CI: 1.14-6.85), erythropoietin (EPO) ( SMD: 9.62, 95% CI: 0.44-18.79), placental growth factor (PIGF) ( SMD: 2.62, 95% CI: 1.38-3.86), tumor necrosis factor-α (TNF-α) ( SMD: 3.37, 95% CI: 1.87-4.87) were all significantly higher in NVG group than in control group (all at P<0.05).There was no significant difference in IL-1β level in aqueous humor between the two groups ( P>0.05). Conclusions:In NVG patients, VEGF, IL-6, IL-8, EPO, PIGF, TNF-α levels are obviously increased and PEDF level is obviously decreased.These biomarkers can be used as potential predictors or therapeutic targets for NVG.


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