1.Multiple synostosis syndrome type 3 caused by an FGF9 variant: a case report
Xiaotong LI ; Xiufang YANG ; Shangwen SHI ; Weihua JIAN
Chinese Journal of Perinatal Medicine 2025;28(9):783-787
This report described the diagnosis and management of a case of multiple synostosis syndrome type 3 associated with a variant in the fibroblast growth factor 9 ( FGF9) gene. The neonate presented characteristic features at birth including limited flexion-extension of the right elbow, left talipes equinovarus, frontal bossing, and craniosynostosis. Whole-exome sequencing identified a heterozygous missense variant FGF9 c.566C>G (p.Pro189Arg), subsequently confirmed by Sanger sequencing as maternally inherited. This specific variant has not been previously reported in association with craniosynostosis. The infant underwent staged bilateral craniosynostosis surgeries at 2 and 3 months of age. At the 16-month follow-up, the Gesell Developmental Schedule indicated a general developmental quotient of 93 with normal performance across all functional domains, demonstrating no psychomotor delay.
2.Risk factors of hyperhomocysteinemia in military pilots
Junwei YANG ; Xiufang WU ; Chunhong PAN ; Haimei TANG ; Tao ZHAO
Journal of Navy Medicine 2025;46(6):547-551
Objective To investigate the epidemiological characteristics and risk factors of hyperhomocysteinemia(HHcy)in military aircrew.Methods A retrospective study was conducted on 506 aircrew convalescents undergoing health examination from September 2023 to April 2024.Demographic,lifestyle,and biochemical data were analyzed.The risk factors of HHcy were identified by x2 test and multivariate Logistic regression.Results The HHcy detection rate was 21.94%(111/506),with a median homocysteine(Hcy)level of 11.75(9.70-14.30)μmol/L.Multivariate analysis revealed that smoking(OR=2.093,95%CI:1.313-3.336),service in conventional fighter aircraft(OR=1.716,95%CI:1.063-2.770),elevated low-density lipoprotein cholesterol(LDL-C)(OR=2.510,95%CI:1.413-4.458),and elevated bilirubin(OR=2.360,95%CI:1.509-3.691)were independent risk factors for HHcy(all P<0.05).Conclusion There is a high prevalence of HHcy in military pilots.It is strongly associated with smoking,aircraft type,and metabolic abnormalities.It is recommended to incorporate Hcy testing into routine physical examination,implement risk factor-based stratified interventions,and establish an atherosclerotic cardiovascular diseases early warning system integrating vascular imaging and risk assessment,aiming to reduce cardiovascular risks and safeguard combat effectiveness.
3.Visual analysis of cardiovascular disease research in pilots based on CiteSpace
Junwei YANG ; Xiufang WU ; Yujie CHEN ; Yun ZHANG ; Haimei TANG
Journal of Navy Medicine 2025;46(9):867-873
Objective To analyze the current research on cardiovascular diseases in pilots using bibliometric methods,so as to provide reference for future researches.Methods Articles indexed by China National Knowledge Infrastructure(CNKI)were selected as the research objects.The time window ranged from January 1990 to February 2024,and the keywords"pilot or flight personnel"and"cardiovascular"were selected to search for all published literatures on cardiovascular diseases in pilots.CiteSpace 6.1.R6 software was used to analyze the authors,institutions,and keywords of the included literatures,and a visual analysis graph was drawn.Results A total of 198 articles were included in this study.The journal with the most published articles was the Chinese Journal of Aerospace Medicine and Aviation Military Medicine.The author with the most published articles was Wang Lujin,followed by Zheng Jun.The institution with the most published articles was Air Force General Hospital(Air Force Medical Center).Risk factors,hypertension,and health assessment were hot keywords.The emerging word was medical appraisal.Conclusion The literatures of cardiovascular diseases among pilots are mainly published in aviation medical journals,forming a research team led by Wang Lujin and Zheng Jun.Research cooperation is mainly within the research team members,with less cooperation between research institutions.The research hotspots are risk factors of cardiovascular disease,hypertension,and health identification,and the forefront of research is the medical identification of cardiovascular diseases among pilots.With the increasing importance of cardiovascular diseases among pilots,it is necessary to strengthen cooperation among research institutions in the future,promote high-quality development in this field,and focus on strengthening scientific research in the prevention of cardiovascular diseases to maintain the physical and mental health of pilots.
4.Prediction of Acquired T790M Mutation Status in Non-Small Cell Lung Cancer via Nomogram Based on CT Radiomics
Wanrong XIONG ; Zhenhua ZHAO ; Tong ZHOU ; Jing YANG ; Xiufang YU ; Ting WANG
Chinese Journal of Medical Imaging 2025;33(4):362-369
Purpose To develop a nomogram combined radiomics,clinical and CT morphographic features for the prediction of the acquired T790M mutation in patients with advanced non-small cell lung cancer with resistance after the duration of first-line epidermal growth factor receptor(EGFR)-tyrosine kinase inhibitor(TKI)treatment.Materials and Methods The chest CT images and clinical data of 116 patients who underwent secondary biopsy after disease progression during first-line TKI treatment for advanced non-small cell lung cancer with EGFR sensitive mutations,from December 2016 to December 2022 in Shaoxing People's Hospital were retrospectively analyzed.All patients were randomly divided into a training cohort(n=81)and a validation cohort(n=35),at a ratio of 7︰3.The regions of interest of the lesion were delineated,and radiomics features were extracted.Feature selection was performed via the maximum relevance minimum redundancy and the least absolute shrinkage and selection operator methods.Clinical features were selected via univariate and multivariate Logistic regression.A nomogram combined clinical and radiomics features was subsequently constructed.The predictive ability of the combined model was evaluated via receiver operator characteristic curve,calibration curves and decision curve analysis.Results The progression-free survival of first-line EGFR-TKIs(OR=1.086,P=0.041),initial EGFR profile(OR=0.280,P=0.021),vascular convergence(OR=4.050,P=0.036)and air bronchogram(OR=3.265,P=0.030)were highly correlated with the acquired T790M mutation.The combined model demonstrated good predictive performance for acquired T790M mutation,both in the training set(AUC=0.867,95%CI 0.790-0.944)and the validation set(AUC=0.895,95%CI 0.786-1.000).The calibration curve showed good calibration power,and the decision curve analysis demonstrated a significant net benefit.Conclusion A radiomics-clinical nomogram based on CT radiomics has the potential to predict acquired T790M mutation and could be a complementary tool for T790M mutation detection after resistance to first-or second-generation EGFR-TKIs.
5.Effect of early warning mechanisms based on nosocomial infection surveillance system on precise prevention and control of spread of multidrug-resistant organisms in neurosurgery department of a hospital
Xiaoyue SHEN ; Xin SU ; Rongjun SHI ; Lu CHEN ; Ziyao QUAN ; Xiufang YANG ; Hongmei FANG
Chinese Journal of Nosocomiology 2025;35(9):1406-1411
OBJECTIVE To observe the effect of early warning mechanisms based on nosocomial infection surveil-lance system on precise prevention and control of spread of multidrug-resistant organisms(MDROs)infections in intensive care unit of neurosurgery department.METHODS The dynamic monitoring was performed in the ICU of neurosurgery department of a three-A general hospital by using real-time surveillance system of nosocomial infec-tion from Jan.2023 to Dec.2023.The warning information was sent to the doctor' station immediately once the MDROs infections were detected,the detection of drug-resistant bacteria was carried out for the relevant personnel and their surroundings,and the precise prevention and control measures were implemented.The impact on the iso-lation rate of MDROs,isolation rate of MDROs from the relevant personnel and surroundings,incidence of noso-comial MDROs infections and incidence of surgical site infection was observed after the measures were taken.RESULTS The carrying rate of MDROs was decreased from 21.80%to 5.74%among the relevant personnel after the precise prevention and control measures were taken(P<0.05),which was improved remarkably among the doctors(decreasing from 21.43%to 6.07%),nurses(decreasing from 23.68%to 3.98%),nursing workers(decreasing from 25.15%to 8.65%),and cleaning staff(decreasing from 25.49%to 5.05%)(P<0.001).The isolation rate of MDROs was decreased from 20.77%to 7.12%among the surroundings(P<0.05),which was decreased most remarkably among head cushions(decreasing from 32.28%to 12.13%),bed rails(decreasing from 16.70%to 3.27%),ventilator panels(decreasing from 23.00%to 6.95%)and bedside floors(decreasing from 31.99%to 9.96%)(P<0.001).The incidence of nosocomial MDROs infections declined from 3.84%to 1.71%(P<0.05),with incidence of incision infections decreasing from 4.00%to 1.45%(P<0.05),the inci-dence of intracranial infections decreasing from 2.38%to 0.56%(P<0.05).CONCLUSION The detection of drug-resistant bacteria is carried out immediately and precisely for the patients with MDROs infection,relevant personnel and their surroundings by using the real-time surveillance system of nosocomial infection,which achieve remarkable effect on prevention of transmission of MDROs and reduction of incidence of hospital-associated infec-tions and surgical site infections.
6.Effect of early warning mechanisms based on nosocomial infection surveillance system on precise prevention and control of spread of multidrug-resistant organisms in neurosurgery department of a hospital
Xiaoyue SHEN ; Xin SU ; Rongjun SHI ; Lu CHEN ; Ziyao QUAN ; Xiufang YANG ; Hongmei FANG
Chinese Journal of Nosocomiology 2025;35(9):1406-1411
OBJECTIVE To observe the effect of early warning mechanisms based on nosocomial infection surveil-lance system on precise prevention and control of spread of multidrug-resistant organisms(MDROs)infections in intensive care unit of neurosurgery department.METHODS The dynamic monitoring was performed in the ICU of neurosurgery department of a three-A general hospital by using real-time surveillance system of nosocomial infec-tion from Jan.2023 to Dec.2023.The warning information was sent to the doctor' station immediately once the MDROs infections were detected,the detection of drug-resistant bacteria was carried out for the relevant personnel and their surroundings,and the precise prevention and control measures were implemented.The impact on the iso-lation rate of MDROs,isolation rate of MDROs from the relevant personnel and surroundings,incidence of noso-comial MDROs infections and incidence of surgical site infection was observed after the measures were taken.RESULTS The carrying rate of MDROs was decreased from 21.80%to 5.74%among the relevant personnel after the precise prevention and control measures were taken(P<0.05),which was improved remarkably among the doctors(decreasing from 21.43%to 6.07%),nurses(decreasing from 23.68%to 3.98%),nursing workers(decreasing from 25.15%to 8.65%),and cleaning staff(decreasing from 25.49%to 5.05%)(P<0.001).The isolation rate of MDROs was decreased from 20.77%to 7.12%among the surroundings(P<0.05),which was decreased most remarkably among head cushions(decreasing from 32.28%to 12.13%),bed rails(decreasing from 16.70%to 3.27%),ventilator panels(decreasing from 23.00%to 6.95%)and bedside floors(decreasing from 31.99%to 9.96%)(P<0.001).The incidence of nosocomial MDROs infections declined from 3.84%to 1.71%(P<0.05),with incidence of incision infections decreasing from 4.00%to 1.45%(P<0.05),the inci-dence of intracranial infections decreasing from 2.38%to 0.56%(P<0.05).CONCLUSION The detection of drug-resistant bacteria is carried out immediately and precisely for the patients with MDROs infection,relevant personnel and their surroundings by using the real-time surveillance system of nosocomial infection,which achieve remarkable effect on prevention of transmission of MDROs and reduction of incidence of hospital-associated infec-tions and surgical site infections.
7.Prediction of Acquired T790M Mutation Status in Non-Small Cell Lung Cancer via Nomogram Based on CT Radiomics
Wanrong XIONG ; Zhenhua ZHAO ; Tong ZHOU ; Jing YANG ; Xiufang YU ; Ting WANG
Chinese Journal of Medical Imaging 2025;33(4):362-369
Purpose To develop a nomogram combined radiomics,clinical and CT morphographic features for the prediction of the acquired T790M mutation in patients with advanced non-small cell lung cancer with resistance after the duration of first-line epidermal growth factor receptor(EGFR)-tyrosine kinase inhibitor(TKI)treatment.Materials and Methods The chest CT images and clinical data of 116 patients who underwent secondary biopsy after disease progression during first-line TKI treatment for advanced non-small cell lung cancer with EGFR sensitive mutations,from December 2016 to December 2022 in Shaoxing People's Hospital were retrospectively analyzed.All patients were randomly divided into a training cohort(n=81)and a validation cohort(n=35),at a ratio of 7︰3.The regions of interest of the lesion were delineated,and radiomics features were extracted.Feature selection was performed via the maximum relevance minimum redundancy and the least absolute shrinkage and selection operator methods.Clinical features were selected via univariate and multivariate Logistic regression.A nomogram combined clinical and radiomics features was subsequently constructed.The predictive ability of the combined model was evaluated via receiver operator characteristic curve,calibration curves and decision curve analysis.Results The progression-free survival of first-line EGFR-TKIs(OR=1.086,P=0.041),initial EGFR profile(OR=0.280,P=0.021),vascular convergence(OR=4.050,P=0.036)and air bronchogram(OR=3.265,P=0.030)were highly correlated with the acquired T790M mutation.The combined model demonstrated good predictive performance for acquired T790M mutation,both in the training set(AUC=0.867,95%CI 0.790-0.944)and the validation set(AUC=0.895,95%CI 0.786-1.000).The calibration curve showed good calibration power,and the decision curve analysis demonstrated a significant net benefit.Conclusion A radiomics-clinical nomogram based on CT radiomics has the potential to predict acquired T790M mutation and could be a complementary tool for T790M mutation detection after resistance to first-or second-generation EGFR-TKIs.
8.Multiple synostosis syndrome type 3 caused by an FGF9 variant: a case report
Xiaotong LI ; Xiufang YANG ; Shangwen SHI ; Weihua JIAN
Chinese Journal of Perinatal Medicine 2025;28(9):783-787
This report described the diagnosis and management of a case of multiple synostosis syndrome type 3 associated with a variant in the fibroblast growth factor 9 ( FGF9) gene. The neonate presented characteristic features at birth including limited flexion-extension of the right elbow, left talipes equinovarus, frontal bossing, and craniosynostosis. Whole-exome sequencing identified a heterozygous missense variant FGF9 c.566C>G (p.Pro189Arg), subsequently confirmed by Sanger sequencing as maternally inherited. This specific variant has not been previously reported in association with craniosynostosis. The infant underwent staged bilateral craniosynostosis surgeries at 2 and 3 months of age. At the 16-month follow-up, the Gesell Developmental Schedule indicated a general developmental quotient of 93 with normal performance across all functional domains, demonstrating no psychomotor delay.
9.Protective effect of herba artemisiae scopariae aqueous extract on neonatal parenteral nutrition-associated cholestasis induced by multidrug resistance protein 3 gene mutation
Xiufang YANG ; Shuming BIN ; Dan LI ; Huiying LIANG ; Kang CHEN ; Kaijun ZHENG ; Juncai DING ; Qiaowei ZHU ; Shangwen SHI ; Guiling CHEN
Chinese Journal of Integrated Traditional and Western Medicine in Intensive and Critical Care 2024;31(3):308-314
Objective To investigate the protective effect of herba artemisiae scopariae extract on multidrug resistance protein 3(MDR3)gene mutation-induced neonatal parenteral nutrition-associated cholestasis(PNAC)and its possible mechanism.Methods ①Human primary hepatocytes were treated with cell culture in vitro,CRISPR/Cas9 lentivirus infection and MDR3 mutant gene lead-in.The levels of hepatic and biliary biochemical indexes[alanine transaminase(ALT),aspartate transaminase(AST),total bilirubin(TBil),direct bilirubin(DBil),indirect bilirubin(IBil),total bile acid(TBA)]in the supernatant of hepatocytes before and after 16,32,48 hours were compared to determine the time required for fatty acid induction of PNAC hepatocyte model with MDR3 gene mutation.② Human primary hepatocytes were divided into blank control group,MDR3 gene wild type group,MDR3 gene mutation group,and herba artemisiae scopariae extract intervention group according to random number table method.The blank control group was treated with culture medium only,the MDR3 gene wild type group was infected with lentivirus and mixed with wild type MDR3 gene and culture medium,the MDR3 gene mutation group was infected with lentivirus and cultured in culture medium with the mutant genes lead-in of LV-MDR3KI(c.485T>A,c.2793insA,c.1031G>A,c.3347G>A)mutation,while the MDR3 mutant gene was lead-in by lentivirus infection and cultured in culture medium,and then pretreated with 100 g/L herba artemisiae scopariae extract in the herba artemisiae scopariae extract intervention group,then the four groups of hepatocytes were induced with 1%fat emulsion,and the treatment time was the time needed to construct the PNAC hepatocytes model with MDR3 gene mutation.The levels of ALT,AST,TBil,DBil,IBil and TBA in the supernatant of hepatocytes were measured by enzyme-linked immunosorbent assay(ELISA).The mRNA expression abundance of adenosine triphosphate binding cassette proteins(ABCB4,ABCB11,ABCC2,ABCC3,ABCC4)encoding MDR3,bile salt export pump(BSEP),multidrug resistance associated protein(MRP)2-4,and tumor necrosis factor-α(TNF-α)genes were detected by real-time fluorescence quantitative polymerase chain reaction(RT-qPCR).Results Compared to the blank control group and MDR3 gene wild type group,there was no significant difference in the levels of ALT,AST,TBil,DBil,IBil,TBA in the supernatant of MDR3 gene mutant group before and 16 hours after induction with 1%fat emulsion,however after treated with 1%fat emulsion for 32 hours and 48 hours,the levels of ALT,AST,TBil,DBil,IBil,TBA in the supernatant of MDR3 mutant hepatocytes were significantly increased(P<0.05),consequently the time required for fatty acid induction of PNAC hepatocyte model was 32 hours.At 32 hours after treatment with fat emulsion,the levels of ALT,AST,TBil,DBil,TBA in the supernatant of hepatocytes in the herba artemisiae scopariae extract intervention group were significantly decreased[ALT(ng/L):148.3±2.3 vs.164.9±7.0,AST(ng/L):2767.4±78.8 vs.3239.4±107.1,TBil(μmol/L):7.6±0.2 vs.13.6±0.3,DBil(μmol/L):1.8±0.1 vs.5.7±0.2,TBA(μmol/L):3.4±0.2 vs.6.7±0.1,all P<0.05].The ABCB4,ABCC2,ABCC3,ABCC4 mRNA expression of MDR3,MRP2,MRP3,MRP4 in the blank control group,MDR3 wild type group,MDR3 gene mutation group and the herba artemisiae scopariae extract intervention group had no significant difference.The expression of TNF gene mRNA was highly expressed in MDR3 gene mutation group(2-??Ct:1.258±0.200 vs.1.001±0.052),and was low expressed in the herba artemisiae scopariae extract intervention group(2-??Ct:0.387±0.247 vs.1.258±0.200),and there was a significant difference between the two groups(both P<0.05).Compared to the MDR3 gene mutation group,the ABCB11 gene encoding BSEP mRNA expression in the herba artemisiae scopariae extract intervention group was significantly increased(2-??Ct:2.955±0.479 vs.1.333±0.529,P<0.05).Conclusion The herba artemisiae scopariae extract has a protective effect on PNAC induced by MDR3 gene mutation,which may be related to antagonizing inflammatory reaction,decreasing the expression of TNF mRNA and improving the expression of ABCB11 gene encoding BSEP.
10.Development and application of a virtual simulation teaching platform for the clinical decision analysis of impacted tooth extraction
Yufang ZHANG ; Yijuan WANG ; Xuhui ZHANG ; Yanping HU ; Haidong YANG ; Zhong CHEN ; Zhisheng ZHANG ; Xiufang WANG ; Xiao CAI
Chinese Journal of Medical Education Research 2024;23(7):936-941
In traditional clinical teaching of impacted tooth extraction, there are problems including limited observation fields for students, insufficient doctor-patient communication training, inadequate clinical thinking development, and low levels of clinical participation. Based on the core elements of visualizing jaw structure with perspective, formulating clinical strategy, immersing in clinical participation, and cultivating the spirit of caregiving, we developed a virtual reality simulation teaching platform for the clinical decision analysis of impacted tooth extraction. The virtual simulation-based platform can create three different impacted tooth scenarios in 3D, which demonstrates the process of clinical decision analysis of impacted tooth extraction through virtuality-reality interaction, allowing students to immerse in the discovery, analysis, and resolution of the medical and humanistic problems in the process of impacted tooth extraction. The questionnaire survey showed that 81.36% (48/59) of the students believed that the software could improve their clinical thinking ability; 76.27% (45/59) of the students believed that it could help them master the basic process of impacted tooth extraction; and 62.71% (37/59) of the students believed that it could improve their skills of impacted tooth extraction. By providing immersive learning experience, constructive teaching design, and multi-dimensional teaching evaluation, the software achieved the goals of cultivating students' clinical thinking ability and professional literacy in oral and maxillofacial surgery.

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