1.A Rubric System for Evaluating the TCA-based Ideological and Political Teaching Model:Its Construction and Application
Ying WANG ; Ling-Hui LV ; Ren-Ji WEI ; Xiang ZHANG ; Yi RU ; Bo YAN ; Lan SHEN ; Mao SUN ; Liang LIANG ; Jing ZHAO
Chinese Journal of Biochemistry and Molecular Biology 2025;41(1):53-67
The success of"New Medical Sciences"in higher education requires effective tools in evalua-ting students'performance in courses.Previously,we reported a teamwork(T),critique(C)and ap-preciation(A)(TCA)ideological and political model,a teaching model widely applied in Basic Medical courses.TCA is an abbreviation derived from Tricarboxylic Acid Cycle in Biochemistry as an analogy for nurturing the abilities of thinking and teamwork(T),critique(C)and appreciation(A),which hope-fully could provide students with moral norms for cognition,science and life.This paper further explores the tools to assess the educational outcomes of the TCA model,by which teachers can collect feedback and reflect on teaching quality and effectiveness.Addressing the challenges of individual differences in large classes,fragmented learning feedback,and the difficulty of measuring meta-cognition in educational evaluation,this study employs strategies of value-added assessment,matrix assessment and norm-transfer-able assessment to evaluate the TCA abilities from the aspects of thinking quality,thinking creativity,co-operation ability,iterative thinking,dialectical thinking and job responsibility.By modifying/using 18 e-valuation tools in Education and Psychology,we have established a rubric system composed of 30 primary indicators(with 11 newly designed,10 partly modified and 9 directly adopted),along with 49 secondary indicators and 98 tertiary indicators to enhance the feasibility of the evaluation process.This rubric sys-tem was applied to Biochemistry teaching among the five-year-program undergraduates at Air Force Medi-cal University.Specifically,thinking and teamwork are evaluated by creative works from"the magic bio-chemical-circle",while critiques are assessed in large classes under the guidance of basic and clinical teachers,coupled with appreciation measured by job responsibility in a task-driven virtual reality(VR)project.The results indicate that Biochemistry teaching not only accumulates knowledge in students,but also achieves the goals in nurturing values and cognition.The inclusion of creative performance evalua-tion,cooperative learning and clinical case studies,can enhance students'interpersonal skills,coopera-tion,quality of thinking,creative thinking,iterative thinking and dialectical thinking to varying degrees.TCA-based Biochemistry teaching has a long-lasting impact on character education,and is capable of in-ducing positive long-term changes in students'cognition and lifestyle.Taken together,with the help of this rubric system,teachers can promptly acknowledge the effectiveness of their teaching,thereby facilita-ting their teaching strategies.
2.Mechanism of Gegen Qinliantang in Regulating Microglia Polarization to Improve Diabetic Cognitive Impairment
Hui FENG ; Chunxiang ZHOU ; Tianyi REN ; Weiwei TAO ; Yun LING
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(13):1-10
ObjectiveTo explore the protective effect and underlying mechanism of Gegen Qinliantang on cognitive function in db/db mice with diabetic cognitive impairment (DCI). MethodsThirty-two 8-week-old male db/db mice were randomly assigned to the model group, dapagliflozin group (1.0 mg·kg-1·d-1), low-dose Gegen Qinliantang group (6.24 g·kg-1·d-1), and high-dose Gegen Qinliantang group (24.96 g·kg-1·d-1). Eight db/m mice served as the normal group. All mice were administered the corresponding treatment once daily by gavage for 10 consecutive weeks. Body weight and fasting blood glucose (FBG) were dynamically monitored. The Morris water maze test was used to evaluate cognitive function. Hematoxylin-eosin (HE) staining and Nissl staining were used to observe pathological changes in the hippocampus. Enzyme-linked immunosorbent assay (ELISA) was employed to measure the levels of tumor necrosis factor-α (TNF-α) and interleukin-1β (IL-1β) in hippocampal tissue. Immunofluorescence double staining was used to detect the co-expression of M1 microglial marker CD16/32 and ionized calcium-binding adapter molecule 1 (IBA1) in the hippocampus. Western blot analysis was performed to detect the protein expression of postsynaptic density protein 95 (PSD-95), synapsin (SYN), nuclear factor-κB p65 (NF-κB p65), and phosphorylated NF-κB p65 (p-NF-κB p65) in the hippocampus. ResultsCompared with the normal group, the model group showed significantly increased body weight and FBG levels (P<0.01), significantly prolonged escape latency and reduced platform crossings in the Morris water maze test (P<0.01), disordered arrangement of hippocampal neurons, nuclear pyknosis, increased neuronal necrosis, reduced Nissl bodies, decreased expression of synaptic proteins PSD-95 and SYN (P<0.01), increased CD16/32+ /IBA1+ positive rate, elevated levels of TNF-α and IL-1β, and an increased p-NF-κB p65/NF-κB p65 ratio (P<0.01). Compared with the model group, the dapagliflozin group exhibited significantly reduced FBG levels at weeks 5 and 10 (P<0.05, P<0.01) and increased body weight. The high-dose Gegen Qinliantang group showed significantly reduced FBG at week 10 (P<0.05). Escape latency was significantly reduced on days 3 and 5 of the water maze test in the dapagliflozin group and on day 5 in the high-dose Gegen Qinliantang group (P<0.05). Platform crossings were significantly increased in both the dapagliflozin group and the high-dose Gegen Qinliantang group (P<0.05). Hippocampal pathological damage was alleviated to varying degrees in the dapagliflozin group and the low- and high-dose Gegen Qinliantang groups, with significantly increased expression of PSD-95 and SYN (P<0.01). Further studies revealed that both low- and high-dose Gegen Qinliantang reduced hippocampal IL-1β levels and the CD16/32+/IBA1+ positive rate of microglia, while the high-dose group also significantly reduced hippocampal TNF-α levels and the p-NF-κB p65/NF-κB p65 (P<0.05, P<0.01). ConclusionGegen Qinliantang can improve hyperglycemia, cognitive dysfunction, and synaptic damage in DCI, inhibit M1 polarization of microglia and neuroinflammation, and its mechanism may be related to the inhibition of NF-κB activation.
3.Mechanism of Gegen Qinliantang in Regulating Microglia Polarization to Improve Diabetic Cognitive Impairment
Hui FENG ; Chunxiang ZHOU ; Tianyi REN ; Weiwei TAO ; Yun LING
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(13):1-10
ObjectiveTo explore the protective effect and underlying mechanism of Gegen Qinliantang on cognitive function in db/db mice with diabetic cognitive impairment (DCI). MethodsThirty-two 8-week-old male db/db mice were randomly assigned to the model group, dapagliflozin group (1.0 mg·kg-1·d-1), low-dose Gegen Qinliantang group (6.24 g·kg-1·d-1), and high-dose Gegen Qinliantang group (24.96 g·kg-1·d-1). Eight db/m mice served as the normal group. All mice were administered the corresponding treatment once daily by gavage for 10 consecutive weeks. Body weight and fasting blood glucose (FBG) were dynamically monitored. The Morris water maze test was used to evaluate cognitive function. Hematoxylin-eosin (HE) staining and Nissl staining were used to observe pathological changes in the hippocampus. Enzyme-linked immunosorbent assay (ELISA) was employed to measure the levels of tumor necrosis factor-α (TNF-α) and interleukin-1β (IL-1β) in hippocampal tissue. Immunofluorescence double staining was used to detect the co-expression of M1 microglial marker CD16/32 and ionized calcium-binding adapter molecule 1 (IBA1) in the hippocampus. Western blot analysis was performed to detect the protein expression of postsynaptic density protein 95 (PSD-95), synapsin (SYN), nuclear factor-κB p65 (NF-κB p65), and phosphorylated NF-κB p65 (p-NF-κB p65) in the hippocampus. ResultsCompared with the normal group, the model group showed significantly increased body weight and FBG levels (P<0.01), significantly prolonged escape latency and reduced platform crossings in the Morris water maze test (P<0.01), disordered arrangement of hippocampal neurons, nuclear pyknosis, increased neuronal necrosis, reduced Nissl bodies, decreased expression of synaptic proteins PSD-95 and SYN (P<0.01), increased CD16/32+ /IBA1+ positive rate, elevated levels of TNF-α and IL-1β, and an increased p-NF-κB p65/NF-κB p65 ratio (P<0.01). Compared with the model group, the dapagliflozin group exhibited significantly reduced FBG levels at weeks 5 and 10 (P<0.05, P<0.01) and increased body weight. The high-dose Gegen Qinliantang group showed significantly reduced FBG at week 10 (P<0.05). Escape latency was significantly reduced on days 3 and 5 of the water maze test in the dapagliflozin group and on day 5 in the high-dose Gegen Qinliantang group (P<0.05). Platform crossings were significantly increased in both the dapagliflozin group and the high-dose Gegen Qinliantang group (P<0.05). Hippocampal pathological damage was alleviated to varying degrees in the dapagliflozin group and the low- and high-dose Gegen Qinliantang groups, with significantly increased expression of PSD-95 and SYN (P<0.01). Further studies revealed that both low- and high-dose Gegen Qinliantang reduced hippocampal IL-1β levels and the CD16/32+/IBA1+ positive rate of microglia, while the high-dose group also significantly reduced hippocampal TNF-α levels and the p-NF-κB p65/NF-κB p65 (P<0.05, P<0.01). ConclusionGegen Qinliantang can improve hyperglycemia, cognitive dysfunction, and synaptic damage in DCI, inhibit M1 polarization of microglia and neuroinflammation, and its mechanism may be related to the inhibition of NF-κB activation.
4.A Rubric System for Evaluating the TCA-based Ideological and Political Teaching Model:Its Construction and Application
Ying WANG ; Ling-Hui LV ; Ren-Ji WEI ; Xiang ZHANG ; Yi RU ; Bo YAN ; Lan SHEN ; Mao SUN ; Liang LIANG ; Jing ZHAO
Chinese Journal of Biochemistry and Molecular Biology 2025;41(1):53-67
The success of"New Medical Sciences"in higher education requires effective tools in evalua-ting students'performance in courses.Previously,we reported a teamwork(T),critique(C)and ap-preciation(A)(TCA)ideological and political model,a teaching model widely applied in Basic Medical courses.TCA is an abbreviation derived from Tricarboxylic Acid Cycle in Biochemistry as an analogy for nurturing the abilities of thinking and teamwork(T),critique(C)and appreciation(A),which hope-fully could provide students with moral norms for cognition,science and life.This paper further explores the tools to assess the educational outcomes of the TCA model,by which teachers can collect feedback and reflect on teaching quality and effectiveness.Addressing the challenges of individual differences in large classes,fragmented learning feedback,and the difficulty of measuring meta-cognition in educational evaluation,this study employs strategies of value-added assessment,matrix assessment and norm-transfer-able assessment to evaluate the TCA abilities from the aspects of thinking quality,thinking creativity,co-operation ability,iterative thinking,dialectical thinking and job responsibility.By modifying/using 18 e-valuation tools in Education and Psychology,we have established a rubric system composed of 30 primary indicators(with 11 newly designed,10 partly modified and 9 directly adopted),along with 49 secondary indicators and 98 tertiary indicators to enhance the feasibility of the evaluation process.This rubric sys-tem was applied to Biochemistry teaching among the five-year-program undergraduates at Air Force Medi-cal University.Specifically,thinking and teamwork are evaluated by creative works from"the magic bio-chemical-circle",while critiques are assessed in large classes under the guidance of basic and clinical teachers,coupled with appreciation measured by job responsibility in a task-driven virtual reality(VR)project.The results indicate that Biochemistry teaching not only accumulates knowledge in students,but also achieves the goals in nurturing values and cognition.The inclusion of creative performance evalua-tion,cooperative learning and clinical case studies,can enhance students'interpersonal skills,coopera-tion,quality of thinking,creative thinking,iterative thinking and dialectical thinking to varying degrees.TCA-based Biochemistry teaching has a long-lasting impact on character education,and is capable of in-ducing positive long-term changes in students'cognition and lifestyle.Taken together,with the help of this rubric system,teachers can promptly acknowledge the effectiveness of their teaching,thereby facilita-ting their teaching strategies.
5.Recommendations for the clinical use of anti-amyloid-β monoclonal antibody for Alzheimer's disease(2025)
Nan ZHI ; Jinwen XIAO ; Rujing REN ; Binyin LI ; Jintao WANG ; Jieli GENG ; Wenwei CAO ; Yaying SONG ; Hualong WANG ; Shuguang CHU ; Guoping PENG ; Jun LIU ; Xiaoyun LIU ; Fang YUAN ; Wen WANG ; Ronghua DOU ; Xia LI ; Ling YUE ; Wenshi WEI ; Xiaoling PAN ; Xiangyang ZHU ; Dian HE ; Weinü FAN ; Jingping SHI ; Nan ZHANG ; Hui ZHAO ; Qin CHEN ; Cuibai WEI ; Xiaochun CHEN ; Gang WANG
Journal of Chongqing Medical University 2025;50(9):1133-1140
In recent years,significant breakthroughs have been achieved in the immunotherapy for Alzheimer's disease.In line with global advancements,two anti-amyloid-β monoclonal antibodies have been approved and successfully launched in China for clinical use.Lecanemab and Donanemab were officially used in June 2024 and April 2025 in China,respectively.In order to standardize the rational and safe application of anti-amyloid-β monoclonal antibodies for Alzheimer's disease in China,this article integrates recom-mendations from the clinical trials and real-world experience from the author's team and domestic peers to further update the recom-mendations for the clinical use of anti-amyloid-β monoclonal antibody based on the 2024 version.It includes indications for therapy,pre-treatment evaluation and preparation,administration protocols and safety measures during treatment,and post-treatment monitor-ing strategies.
6.Risk factors and development of a prediction model of enteral feeding intolerance in critically ill children.
Xia ZHOU ; Hong-Mei GAO ; Lin HUANG ; Hui-Wu HAN ; Hong-Ling HU ; You LI ; Ren-He YU
Chinese Journal of Contemporary Pediatrics 2025;27(3):321-327
OBJECTIVES:
To explore the risk factors of feeding intolerance (FI) in critically ill children receiving enteral nutrition (EN) and to construct a prediction nomogram model for FI.
METHODS:
A retrospective study was conducted to collect data from critically ill children admitted to the Pediatric Intensive Care Unit of Xiangya Hospital, Central South University, between January 2015 and October 2020. The children were randomly divided into a training set (346 cases) and a validation set (147 cases). The training set was further divided into a tolerance group (216 cases) and an intolerance group (130 cases). Multivariate logistic regression analysis was used to screen for risk factors for FI in critically ill children receiving EN. A nomogram was constructed using R language, which was then validated on the validation set. The model's discrimination, calibration, and clinical net benefit were evaluated using receiver operating characteristic curves, calibration curves, and decision curves.
RESULTS:
Duration of bed rest, shock, gastrointestinal decompression, use of non-steroidal anti-inflammatory drugs, and combined parenteral nutrition were identified as independent risk factors for FI in critically ill children receiving EN (P<0.05). Based on these factors, a nomogram prediction model for FI in critically ill children receiving EN was developed. The area under the receiver operating characteristic curve for the training set and validation set was 0.934 (95%CI: 0.906-0.963) and 0.852 (95%CI: 0.787-0.917), respectively, indicating good discrimination of the model. The Hosmer-Lemeshow goodness-of-fit test showed that the model had a good fit (χ 2=12.559, P=0.128). Calibration curve and decision curve analyses suggested that the model has high predictive efficacy and clinical application value.
CONCLUSIONS
Duration of bed rest, shock, gastrointestinal decompression, use of non-steroidal anti-inflammatory drugs, and combined parenteral nutrition are independent risk factors for FI in critically ill children receiving EN. The nomogram model developed based on these factors exhibits high predictive efficacy and clinical application value.
Humans
;
Critical Illness
;
Enteral Nutrition/adverse effects*
;
Male
;
Risk Factors
;
Female
;
Child, Preschool
;
Infant
;
Nomograms
;
Retrospective Studies
;
Child
;
Logistic Models
7.Bear Bile Powder Ameliorates LPS-Induced Acute Lung Injury by Inhibiting CD14 Pathway and Improving Intestinal Flora: Exploration of "Fei (Lung)-Dachang (Large Intestine) Interaction" Theory.
Long CHENG ; Hui-Ling TIAN ; Hong-Yuan LEI ; Ying-Zhou WANG ; Ma-Jing JIAO ; Yun-Hui LIANG ; Zhi-Zheng WU ; Xu-Kun DENG ; Yong-Shen REN
Chinese journal of integrative medicine 2025;31(9):821-829
OBJECTIVE:
To explore the effect of bear bile powder (BBP) on acute lung injury (ALI) and the underlying mechanism.
METHODS:
The chemical constituents of BBP were analyzed by ultra-high-pressure liquid chromatography-mass spectrometry (UPLC-MS). After 7 days of adaptive feeding, 50 mice were randomly divided into 5 groups by a random number table (n=10): normal control (NC), lipopolysaccharide (LPS), dexamethasone (Dex), low-, and high-dose BBP groups. The dosing cycle was 9 days. On the 12th and 14th days, 20 µL of Staphylococcus aureus solution (bacterial concentration of 1 × 10-7 CFU/mL) was given by nasal drip after 1 h of intragastric administration, and the mice in the NC group was given the same dose of phosphated buffered saline (PBS) solution. On the 16th day, after 1 h intragastric administration, 100 µL of LPS solution (1 mg/mL) was given by tracheal intubation, and the same dose of PBS solution was given to the NC group. Lung tissue was obtained to measure the myeloperoxidase (MPO) activity, the lung wet/dry weight ratio and expressions of CD14 and other related proteins. The lower lobe of the right lung was obtained for pathological examination. The concentrations of inflammatory cytokines including interleukin (IL)-6, tumour necrosis factor α (TNF-α ) and IL-1β in the bronchoalveolar lavage fluid (BALF) were detected by enzyme linked immunosorbent assay, and the number of neutrophils was counted. The colonic contents of the mice were analyzed by 16 sRNA technique and the contents of short-chain fatty acids (SCFAs) were measured by gas chromatograph-mass spectrometer (GC-MS).
RESULTS:
UPLC-MS revealed that the chemical components of BBP samples were mainly tauroursodeoxycholic acid and taurochenodeoxycholic acid sodium salt. BBP reduced the activity of MPO, concentrations of inflammatory cytokines, and inhibited the expression of CD14 protein, thus suppressing the activation of NF-κB pathway (P<0.05). The lung histopathological results indicated that BBP significantly reduced the degree of neutrophil infiltration, cell shedding, necrosis, and alveolar cavity depression. Moreover, BBP effectively regulated the composition of the intestinal microflora and increased the production of SCFAs, which contributed to its treatment effect (P<0.05).
CONCLUSIONS
BBP alleviates lung injury in ALI mouse through inhibiting activation of NF-κB pathway and decreasing expression of CD14 protein. BBP may promote recovery of ALI by improving the structure of intestinal flora and enhancing metabolic function of intestinal flora.
Animals
;
Acute Lung Injury/pathology*
;
Lipopolysaccharides
;
Ursidae
;
Gastrointestinal Microbiome/drug effects*
;
Bile/chemistry*
;
Lipopolysaccharide Receptors/metabolism*
;
Powders
;
Male
;
Lung/drug effects*
;
Mice
;
Peroxidase/metabolism*
;
Signal Transduction/drug effects*
;
Cytokines/metabolism*
8.Expert consensus on the diagnosis and treatment of cemental tear.
Ye LIANG ; Hongrui LIU ; Chengjia XIE ; Yang YU ; Jinlong SHAO ; Chunxu LV ; Wenyan KANG ; Fuhua YAN ; Yaping PAN ; Faming CHEN ; Yan XU ; Zuomin WANG ; Yao SUN ; Ang LI ; Lili CHEN ; Qingxian LUAN ; Chuanjiang ZHAO ; Zhengguo CAO ; Yi LIU ; Jiang SUN ; Zhongchen SONG ; Lei ZHAO ; Li LIN ; Peihui DING ; Weilian SUN ; Jun WANG ; Jiang LIN ; Guangxun ZHU ; Qi ZHANG ; Lijun LUO ; Jiayin DENG ; Yihuai PAN ; Jin ZHAO ; Aimei SONG ; Hongmei GUO ; Jin ZHANG ; Pingping CUI ; Song GE ; Rui ZHANG ; Xiuyun REN ; Shengbin HUANG ; Xi WEI ; Lihong QIU ; Jing DENG ; Keqing PAN ; Dandan MA ; Hongyu ZHAO ; Dong CHEN ; Liangjun ZHONG ; Gang DING ; Wu CHEN ; Quanchen XU ; Xiaoyu SUN ; Lingqian DU ; Ling LI ; Yijia WANG ; Xiaoyuan LI ; Qiang CHEN ; Hui WANG ; Zheng ZHANG ; Mengmeng LIU ; Chengfei ZHANG ; Xuedong ZHOU ; Shaohua GE
International Journal of Oral Science 2025;17(1):61-61
Cemental tear is a rare and indetectable condition unless obvious clinical signs present with the involvement of surrounding periodontal and periapical tissues. Due to its clinical manifestations similar to common dental issues, such as vertical root fracture, primary endodontic diseases, and periodontal diseases, as well as the low awareness of cemental tear for clinicians, misdiagnosis often occurs. The critical principle for cemental tear treatment is to remove torn fragments, and overlooking fragments leads to futile therapy, which could deteriorate the conditions of the affected teeth. Therefore, accurate diagnosis and subsequent appropriate interventions are vital for managing cemental tear. Novel diagnostic tools, including cone-beam computed tomography (CBCT), microscopes, and enamel matrix derivatives, have improved early detection and management, enhancing tooth retention. The implementation of standardized diagnostic criteria and treatment protocols, combined with improved clinical awareness among dental professionals, serves to mitigate risks of diagnostic errors and suboptimal therapeutic interventions. This expert consensus reviewed the epidemiology, pathogenesis, potential predisposing factors, clinical manifestations, diagnosis, differential diagnosis, treatment, and prognosis of cemental tear, aiming to provide a clinical guideline and facilitate clinicians to have a better understanding of cemental tear.
Humans
;
Dental Cementum/injuries*
;
Consensus
;
Diagnosis, Differential
;
Cone-Beam Computed Tomography
;
Tooth Fractures/therapy*
9.Coptidis Rhizoma and Its Prescriptions in Treatment of Diabetic Cognitive Impairment: A Review
Tianyi REN ; Yun LING ; Yiming SHEN ; Hui FENG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(20):266-275
Diabetic cognitive impairment (DCI) has an insidious onset and progressive and irreversible development. There is currently no first-line treatment for DCI. Early intervention of diabetes with traditional Chinese medicine (TCM) can effectively control blood sugar and improve cognitive impairment, which has significant advantages. As a representative of bitter and cold heat-clearing medicines, Coptidis Rhizoma, known for its abilities to clear heat and dampness and remove turbidity and toxins, has been widely used in the clinical prevention and treatment of diabetes, Alzheimer's disease, vascular dementia, and other cognitive impairments. This article systematically summarized relevant literature and observed that Coptidis Rhizoma has shown good potential in the prevention and treatment of DCI with its active ingredients such as berberine and quercetin, drug pairs such as Coptidis Rhizoma-Scutellariae Radix, Coptidis Rhizoma-Acorus Tatarinowii Rhizoma, Coptidis Rhizoma-Pinelliae Rhizoma, Coptidis Rhizoma-Zingiberis Rhizoma, and prescriptions such as Gegen Qinliantang, Huanglian Jiedutang, Banxia Xiexintang, Huanglian Wendantang, Jiaotai Wan, Danggui liuhuangtang, and related Chinese patent medicines. Its mechanism may be related to regulating glucose metabolism, improving insulin resistance, improving amyloid β-protein (Aβ) deposition and tau protein phosphorylation, inhibiting neuroinflammation and oxidative stress, and regulating the "microbe-gut-brain axis". The article systematically reviewed the research progress of Coptidis Rhizoma and its prescriptions in the prevention and treatment of DCI, aiming to preliminarily explain the scientific connotation of Coptidis Rhizoma and provide a basis for its clinical application in the prevention and treatment of DCI.
10.A novel PAX9 variant in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants
Zhanyun JIN ; Junjia GUO ; Yunyun YUAN ; Lingqiang MENG ; Hui LI ; Ya ZHAO ; Jiabao REN ; Yongping MA ; Zun-Sheng XIAO ; Hong ZHANG ; Ling YANG ; Chenyun DOU ; Xiaoxue WANG ; Jinmei WANG ; Wenjing SHEN
West China Journal of Stomatology 2024;42(5):581-592
Objective This study aimed to identify PAX9 variants in non-syndromic tooth agenesis families of Chi-na,as well as to analyze the genotype-phenotype of non-syndromic tooth agenesis caused by PAX9 variants,which can provide a basis for the genetic diagnosis of tooth agenesis.Methods We collected the data of 44 patients with non-syn-dromic oligodontia who underwent treatment at Stomatological Hospital of Hebei Medical University between 2018 and 2023.Whole-exome sequencing was performed on the peripheral blood of the proband and its core family members,and the variants were verified by Sanger sequencing.Pathogenicity analysis and function prediction of the variants were per-formed using bioinformatics tools.The correlation between the genotype of PAX9 variant and its corresponding pheno-type was examined by reviewing 55 publications retrieved from PubMed.The studies involved 232 tooth agenesis pa-tients with PAX9 variants.Results A novel PAX9 c.447delG(p.Pro150Argfs*62)and a reported PAX9 c.406C>T(p.Gln136*)were identified in two Chinese families.Through bioinformatics analysis and three-dimensional structural mod-eling,we postulated that the frameshift variant was pathogenic.The outcome was the premature cessation of PAX9 pro-tein,which caused severe structural and functional deficiencies.Summarizing the PAX9 genotype-phenotype relationship revealed that patients carrying the PAX9 variant commonly led to loss of the second molars.Conclusion We identified the novel PAX9 c.447delG(p.Pro150Argfs*62)in a Chinese family of non-syndromic oligodontia,expanding the known variant spectrum of PAX9.The most susceptible tooth position for PAX9 variants of tooth agenesis was the second mo-lars and the deciduous molars during the deciduous dentition.

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