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.Analysis of Gut Microbiota Diversity in Osteoporosis Patients with Various Traditional Chinese Medicine Syndrome Types in the Lingnan Region
Huan LI ; Wending YAN ; Tianzhao TIAN ; Jinyuan WANG ; Haodong LIANG
Journal of Guangzhou University of Traditional Chinese Medicine 2025;42(7):1574-1582
Objective To investigate the diversity of gut microbiota in osteoporosis(OP)patients with various traditional Chinese medicine(TCM)syndrome types in the Lingnan region.Methods The analysis was carried out in 13 OP patients with blood stasis and qi stagnation syndrome(Group 1)and 13 OP patients with liver-kidney deficiency syndrome(Group 2)who were treated at Guangzhou Hospital of Chinese Medicine,the Affiliated Hospital of Guangzhou University of Chinese Medicine from January 2023 to December 2023.Fecal samples of both groups were collected,and baseline comparisons between the two groups were performed before testing.After DNA extraction,valid sequencing data were processed by operational taxonomic unit(OTU)clustering,species annotation,and microbial community composition analysis.Alpha and Beta diversity indices were employed to assess species diversity,and LEfSe was used to identify key microbial taxa.Results No significant differences in baseline characteristics such as gender and age were presented between the two groups(P>0.05).Microbial community composition analysis revealed no significant differences in the top 15 abundant taxa at various taxonomic levels between the two groups,but structural variations were noted.Alpha diversity analysis showed that the Simpson index in Group 1 differed from that in Group 2(P<0.05),while chao 1,ACE,richness,and coverage indices exhibited no significant differences between the two groups(P>0.05).In Beta diversity analysis,multi-response permutation analysis(MRPP)indicated no significant intergroup differences in community structure(P>0.05),whereas principal coordinate analysis(PCoA)suggested distinct differences in the distribution of species composition.LEfSe identified 14 taxa(e.g.,Lachnospiraceae and Lachnospirales)with significantly higher abundance and 5 taxa(e.g.,Anaeromassilibacillus and Desulfovibrio)with significantly lower abundance in Group 1.Conclusion OP patients with various TCM syndrome types in the Lingnan region exhibit distinct gut microbiota diversity and dominant microbial taxa,which will provide an objective basis for TCM syndrome differentiation of OP.
6.Regulatory Mechanism of Keap1/Nfe2L2 on Osteogenic Differentiation in Periodontitis
Yanfei HUANG ; Hongbin YU ; Lingyun YIN ; Jing LIANG ; Changquan LI ; Dehong LI ; Jinyuan WANG ; Qian OUYANG
Journal of Kunming Medical University 2025;46(7):26-37
Objective To explore the regulatory mechanism of NFE2L2/KEAP1 in alveolar bone repair induced by periodontitis.Methods A rat periodontitis model was established and divided into four groups:Control group(n=6);Periodontitis model group(n=6);Periodontitis+lentivirus empty vector group(n=6);Periodontitis+NFE2L2 overexpression plasmid group(n=6).Histopathological changes in each group were observed using HE staining.TRAP staining was used to detect osteoclast positivity,while ELISA was employed to measure inflammatory cytokine levels in tissues.Immunofluorescence and qPCR were used to detect NFE2L2 expression,and western blot was used to assess the expression of osteogenic proteins ALPL2,RUNX2,and COL1.Primary periodontal ligament cells(hPDLCs)were cultured,and cells were transfected to overexpress NFE2L2 and KEAP1.The cells were divided into six groups:Normal group;Model group;pcDNA-NC group;pcDNA-NFE2L2 group;pc-NFE2L2+pcDNA-NC group;pc-NFE2L2+pcDNA-KEAP1 group.A cellular model was established,and the morphology of primary hPDLCs was observed under a microscope.Cell proliferation was assessed using CCK-8.Osteogenic mineralization was observed using alizarin red staining,and western blot was used to detect osteogenic proteins and autophagy markers.Cell migration was observed using a scratch assay.Results(1)After model induction,redness,swelling of the gums,extensive inflammatory infiltration,and alveolar bone resorption were observed,confirming successful model establishment.Partial tissue recovery occurred after NFE2L2 overexpression via lentivirus.(2)After model induction,osteoclast positivity increased,confirming successful model establishment.Overexpression of NFE2L2 reduced osteoclast positivity(P<0.001).(3)After model induction,levels of IL-1β,IL-10,and TNF-α were significantly higher than in the normal group(P<0.05),confirming successful model establishment.Transfection with NFE2L2 lentivirus reduced inflammatory cytokine levels(P<0.0001).After model induction,osteogenic protein expression decreased compared to the normal group,but overexpression of NFE2L2 increased osteogenic protein expression(P<0.05).(5)LPS treatment significantly reduced cell viability,while NFE2L2 overexpression enhanced it(P<0.0001).(6)LPS treatment reduced calcified nodules,while NFE2L2 overexpression increased them.Addition of pcDNA-KEAP1 reduced mineralized nodules.(7)LPS treatment decreased osteogenic protein expression,while NFE2L2 overexpression increased it.However,addition of pcDNA-KEAP1 reduced osteogenic protein expression(P<0.05).(8)LPS treatment reduced cell migration,whereas NFE2L2 overexpression enhanced it(P<0.0001).(9)Expression of autophagy markers decreased after LPS treatment,but increased after transfection with NFE2L2 plasmid.However,addition of pcDNA-KEAP1 reduced the expression of autophagy markers(P<0.05).Conclusion This study identified the regulatory role of NFE2L2/KEAP1 in periodontitis,providing a scientific basis for the treatment of periodontitis.
7.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.
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.Interpretation of the International Myopia Institute's management and re-search focus of myopia in different ages
Ruihua WEI ; Haoru LI ; Jinyuan SUI ; Xinrui SHI ; Bei DU
Recent Advances in Ophthalmology 2024;44(1):13-17,23
The increasing incidence of myopia has become a significant public health issue worldwide.Since its estab-lishment in 2015,the International Myopia Institute(IMI)has published a series of white papers on myopia prevention and control in 2019 and 2021,advancing the scientific management and clinical research of myopia prevention and control worldwide.In 2023,IMI released new white papers on myopia prevention and control.In this paper,the highlights of the third series of IMI white papers on children,young adults,and emerging research areas in myopia are interpreted,intend-ing to help related professionals understand the management and research focus of myopia patients of different ages.
10.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.

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