ObjectiveTo analyze the influencing factors of pulmonary dysfunction among community-based population at high-risk for chronic obstructive pulmonary disease (COPD), and to establish a risk assessment model to provide a reference basis for accelerating the beforehand prevention and control of COPD and promoting the respiratory health of community-based residents. MethodsIndividuals aged >35 years old, with at least one risk factor except age illustrated in the Guidelines for Primary Diagnosis and Treatment of Chronic Obstructive Lung Disease (2018), and participated in the early screening for COPD from July 2022 to December 2023 were selected as the research subjects, and their lung function was assessed by the forceful expiratory volume in the first second after inhalation of bronchodilator (FEV₁)/ forced vital capacity (FVC) <70% and/or the ratio of FEV₁ to predicted value (FEV₁%Pred) <80% as the diagnostic criteria. In addition, risk factors related to pulmonary dysfunction were analyzed for the establishment of risk assessment model. ResultsA total of 823 individuals aged between 35‒76 years were included, among which 298 (36.21%) were diagnosed with pulmonary dysfunction, 167 (20.29%) with COPD, and 131 (15.92%) with preserved ratio but impaired spirometry. Logistic regression analysis revealed that male gender, increasing age, more frequent smoking, insufficient physical activity, recurrent wheezing, the presence of post-exercise wheezing or coughing, insensitive to airborne allergens, and history of chronic bronchitis or bronchial asthma were correlated with pulmonary dysfunction. The incidence rate of pulmonary dysfunction was 1.99 times higher in males than that in females, 1.81 times more common in those aged between 70‒76 years than those aged <60 years, 2.42 times more common in those who smoked 50‒200 pack-years than in those who smoked 0‒14 pack-years, 1.78 times higher in those who underwent physical activity <600 MET‑min·week^-1 than in those who underwent physical activity ≥600 MET‑min·week^-1, 2.61 times higher in those suffered recurrent wheezing than in those did not, 1.53 times higher in those with symptoms of post-exercise wheezing or coughing than in those without, 1.61 times higher in those insensitive to airborne allergens than those sensitive, 2.02 times higher in patients with chronic bronchitis than in those without, and 2.41 times higher in patients with bronchial asthma than in those without. The risk assessment model for pulmonary dysfunction constructed on this basis had a total score of 28 points, and the area under the subject operating characteristic (ROC) curve was 0.72, reaching the cut-off point of ROC curve while taking scores ≥10 points as the cut-off value for pulmonary dysfunction. ConclusionIn community-based high-risk COPD population, the incidence rate of pulmonary dysfunction is higher in males than that in females, in addition, which increases with the advancement of age. Smoking,insufficient physical activity,recurrent wheezing,post-exercise wheezing or coughing,insensitive to airborne allergens,and history of chronic bronchitis or bronchial asthma are high risk factors for pulmonary dysfunction. The risk assessment model constructed based on these factors has a good predictive effect in screening high-risk population of COPD, but its effectiveness in screening people at general risk needs to be further validated.

Objective:To identify the genetic variation in a mucopolysaccharidosis type Ⅱ(MPS Ⅱ)family, and conduct a functional study of iduronate-2-sulfatase(IDS): c.323A>C.Methods:A five-generation MPS Ⅱ family of 83 individuals including 4 patients from northern China was collected. Urine mucopolysaccharide and Alder-Reilly body were tested to assist the clinical diagnosis of MPS Ⅱ. IDS enzyme activity was detected on core family members. By the whole exome sequencing of a MPS Ⅱ patient in this family and bioinformatics analysis, the variant was screened and further identified by PCR-Sanger sequencing. Finally, to validate the function of the variant in vitro, the wild-type IDS overexpression plasmid(pCMV-hIDS-WT)and the IDS overexpression plasmid carrying the mutation site(pCMV-hIDS-c.323A>C)were transfected into COS-7 cells and the IDS activity was detected. Results:The proband(Ⅳ3)and Ⅳ4 were diagnosed as MPS Ⅱ by urine mucopolysaccharide, Alder-Reilly body, and IDS enzyme activity tests. Ⅳ3, Ⅳ4, Ⅲ19, and Ⅲ32 were determined to carry IDS: c.323A>C missense variant through the whole-exome sequencing, and diagnosed as MPS Ⅱ. Meanwhile, Ⅱ2, Ⅱ4, Ⅱ8, Ⅱ12, Ⅱ14, Ⅲ5, Ⅲ7, Ⅳ14 in the MPS Ⅱ family carried IDS: c.323A>C missense variant, and were excluded as MPS Ⅱ. The in vitro experiment in COS-7 cells showed that the missense mutation led to a significant decrease in IDS enzyme activity. Conclusion:The variant IDS: c.323A>C: p.Y108S significantly decreases the activity of IDS enzyme in vivo and in vitro, and it is identified as a pathogenic variant for MPS Ⅱ.

Objective:To investigate the expression level of plasma miR-320c in patients with osteoarthritis(OA), and explore the clinical significance and the role in pathogenesis of OA.Methods:The clinical data and peripheral blood of 30 patients with OA, 30 patients with connective tissue diseases and 30 healthy control individuals were collected.The levels of plasma miR-320c were detected byfluorescentquantitative reverse transcription PCR(qRT-PCR). Correlation analysis was used to explore the correlation of plasma miR-320c level with knee X-ray data and VAS pain score in OA patients.Finally the miR-320c mimic, the miR-320c inhibitor, and the control material were transfected to the chondrocyte HC-a.The proliferative capacity of HC-a chondrocytes was examined at different time points as determined by the CCK-8 assay.Results:The expression level of plasma miR-320c was significantly higher in OA group(3.26±0.55)than that in the connective tissue diseases group(1.62±0.50)and in healthy control group(1.21±0.66)( F=107.66, P<0.001). Plasma miR-320c expression was positively correlated with radiographic grade( r=0.830, P<0.001), and had no correlation with VAS pain score in OA group( P>0.05). Through repeated measurement variance analysis, the time effect, the group effect and the interaction effect between group and time showed statistically significant differences in chondrocyte proliferation between NC mimic group and miR-320c mimic group( Ftime=5256.767, Fgroup=1947.436, Ftime×group=114.314, all P<0.001). The level of proliferation was significantly reduced.Apoptosis rate of chondrocytes was significantly increased in the group transfected with miR-320c( t=7.85, P<0.01). Conclusions:The expression level of plasma miR-320c is significantly higher in osteoarthritis patients and associated with knee radiographic severity grade.Furthermore, over-expression of miR-320c could suppress the proliferation of chondrocytes.Plasma miR-320c might be potential bio-marker for osteoarthritis knee severity assessment, and involves in regulating chondrocyte growth in the pathogenesis of osteoarthritis.

Objective:To understand the status quo of self-stigma of diabetic patients in college students and analyze its influencing factors.Methods:This study was a cross-sectional study, and the convenient sampling was conducted online and offline from July 2017 to June 2020. College students with diabetes who were treated in outpatient or inpatient Departments of Endocrinology and Metabolism in 5 Class Ⅲ Grade A hospitals were selected as the research objects, and similar patients who followed 2 diabetes public accounts were selected as online supplements. General information questionnaire and China-Self Stigma Scale (C-SSS) were used for questionnaire surveys. Data were statistically processed by t-test, analysis of variance and multiple linear regression analysis. A total of 200 questionnaires were distributed, and 189 valid questionnaires were recovered, with an effective recovery rate of 94.50%. The self-stigma of 80.42% of college students with diabetes mellitus was at a medium-to-high level. The total average score of C-SSS was (2.34±0.49) , of which the mean scores of cognitive dimension, emotional dimension and behavioral dimension were respectively (2.33±0.50) , (2.41±0.57) and (2.19±0.64) . The results of univariate analysis showed that there were statistically significant differences in the stigma scores of diabetic patients with different genders, family locations, parental physical conditions, diabetes types, family history, diabetes complications and insulin treatment or not ( P<0.05) . The results of multiple linear regression analysis showed that gender and type of diabetes were factors affecting the self-stigma level of college students with diabetes mellitus ( P<0.05) . Conclusions:The level of self-stigma in college students with diabetes mellitus is generally high. Hospitals, schools and families should strengthen cooperation and pay attention to these with high level of self-stigma. Meanwhile, early prevention and control should be targeted through dynamic tracking, psychological counseling and other interventions.

OBJECTIVE：To study the diff erences in the overall chemical constituents of Angelicae dahuricae with and without sulphur-fumigation，and to select chemical markers that can be used for identification. METHODS ：Each 16 batches of A. dahuricae with and without sulphur-fumigation were selected as samples. Deuterated methanol-deuterium oxide （1 ∶ 0.2，V/V）was used as extraction solvent ，and 1H-NMR metabolomics was used to detect the primary and secondary metabolites in A. dahuricae . In addition ，visual analysis ，principal component analysis （PCA）and t-test were used to compare the component differences of A. dahuricae by two kinds of pretreatment methods. RESULTS ：A total of 19 chemical constituents such as coumarins ，amino acids and sugars were simultaneously detected and identified from two kinds of A. dahuricae . Visual analysis showed that the chemical profiles of the two kinds of A. dahuricae were similar ，but their coumarins and carbohydrates were quite different in 1H-NMR signal intensity. PCA analysis showed that all samples could be divided into two categories according to different treatment methods. The results of t-test showed that the contents of oxypeucedanin ，imperatorin，glucose and sucrose of A. dahuricae were decreased significantly after sulphur fumigation （P＜0.01 or P＜0.001），while the contents of alanine and leucine were significantly increased （P＜0.01 or P＜0.001）. There was no statistical significance in the contents of other 13 kinds of components （P＞0.05）. CONCLUSIONS：There are obvious differences in the 6 chemical compounds of oxypeucedanin ，imperatorin，glucose，sucrose， alanine and leucine in A. dahuricae with and without sulphur-fumigation ，which can be used as chemical markers for the identification of sulphur-fumigated A. dahuricae in the market.

Objective:To explore the characteristics of plasma microRNA (miRNA) profiles and bioinformatics in patients with osteoarthritis(OA) in order to search for diseases related biomarkers.Methods:Blood samples from 20 cases of OA patients and 15 cases of normal control (NC) were collected to extracted total RNA in plasma. The plasma miRNA expression profile was tested by using Agilent Human miRNA array. Target gene analysis and clustering analysis were performed on differentially expressed microRNAs. Three differentially expressed miRNAs (miR-134-5p, miR-320c and miR-940) were detected by real-time quantitative polymerase chain reaction (RT-qPCR) for further confirmation of microarray data. The differences were tested using t test analysis. Results:① MiRNA microarray showed that compared with NC, there were 74 differential expression genes in plasma of patients in the OA group (FC≥2, P≤0.01), among which 45 were up-regulated and 29 were down-regulated. ② A total of 2 731 potential target genes were predicted in three database, and involved in 462 Kyoto Encyclopedia of Genes and Genomes (KEEG) pathways. Target gene ontology (GO) functional clustering found that the main functions of miRNAs were intercellular adhesion, collagen synthesis, intracellular signal transduction, etc. The main KEGG pathways of miRNAs include mitogen-activated protein kinase (MAPK) signaling pathway, cyclic adenosine monophosphate (cAMP) signaling pathway, osteoclast differentiation signaling pathway, etc. ③ The expression level of miR-20a-5p and miR-320c in OA group were significantly higher than that in controls ( t=-6.142, P<0.05; t=-3.854, P<0.05), while miR-940 was significantly lower than that of controls ( t=2.767, P<0.05) . The trend was consistent with the microarray data. The receiver operating characteristic curve (ROC) curve analyses showed that they were useful biomarkers for differentiating patients with OA from controls. Conclusion:The study shows that plasma in OA patients has a specific miRNAs expression, and miRNAs play an important role in the pathogenesis of OA.

Objectives: To explore the differences in signal pathway and gene expression related to the pathogenesis of congenital microtia by the in-depth analysis of DNA methylation profiling of auricular chondrocytes from congenital microtia patients. Methods: Genome wide methylation profile of congenital microtia was obtained by MeDIP chip technology, and analyzed by Gene ontology (GO) and Pathway analysis. The gene expression levels of Wnt1 and Wnt11 were evaluated by Real-time PCR in the auricular cartilage from the healthy side and affected side of the congenital microtia patients , and healthy controls. Results: The GO and Pathway assay showed that Wnt signal pathway was enriched in differential methylated levels. The Wnt1 and Wnt11 genes were with higher methylation in the promoter region and CpG islands in healthy control group than that in microtia group, in addition the methylation level in the affected side auricular cartilage was lower than that in the healthy side. There was no difference in Wnt1 and Wnt11 gene expression in microtia patients and healthy controls. The higher Wnt11 gene expression was detected in the affected side residual cartilage tissues than in the healthy side cartilage tissues of the same congenital microtia patient. Conclusions The over expression of Wnt11 during embryonic development might be associated with the pathogenesis of congenital microtia. The mechanism of the difference in methylation levles of Wnt11 affecting pathogenesis of congenital microtia needs further research.

Objective To evaluate the feasibility and safety of simultaneous carotid endarterectomy (CEA) and carotid stenting (CAS) for bilateral carotid stenosis.Methods From Jan 2012 to Aug 2014,8 patients underwent simultaneous CEA and CAS.The surgical plan was based on clinical features and imaging findings.CEA before CAS was done in 5 patients,CAS before CEA was done in 3 patients.One patient also underwent simultaneous coronary artery bypass grafting due to unstable angina.Results Operation success rate was 100％.Intraoperative carotid shunts,patches and embolic protection devices were used in all patients.One patient developed post-procedural hyperperfusion syndrome and returned to normal after symptomatic treatment.The remaining patients recovered uneventfully,there were no cerebrovascular accident,nerve injury or wound complications.Follow-up period was 18-48 months,follow-up rate was 100％.During the follow-up,all patients were relatively stable,no re-stenosis,death or cardiovascular events.Conclusions Through thorough evaluation,careful preparation,and strict management,simultaneous CEA and CAS is a technically feasible and safe treatment strategy for bilateral carotid stenosis.

Objective To evaluate carotid endarterectomy (CEA) for bilateral moderate to severe carotid stenosis.Methods The clinical data of 59 patients with bilateral moderate to severe carotid stenosis who were treated with CEA in our hospital from October 2010 to August 2014 were retrospectively analyzed.There were 50 males and 9 females age ranging 42-80 years (mean:65 ± 9 years).48 patientsunderwent ipsilateral CEA and 11 underwent staged bilateral CEA.In patients who were confirmed to have coronary artery disease or peripheral vascular disease by preoperative angiography,6 received coronary artery bypass graft (CABG)simultaneously,1 received iliac artery balloon angioplasty and stent implantation simultaneously,and 1 received renal artery stenting simultaneously.Results A total of 70 endarterectomies were performed,shunt and patching were used in all patients,the surgical success rate was 100％.2 patients suffered from vagus nerve injury,4 patients suffered from hypoglossal nerve injury,and 3 patients presented with hyperperfusion syndrome.Follow-up period was 2-36 months (mean:19 ± 10 months).1 patient died of heart attack during the follow-up,the other patients were relatively stable with no restenosis.Conclusion CEA should be performed in patients with bilateral moderate to severe carotid stenosis,and the prognosis is good.

Objective To compare the outcome and early patency rate of revascularization treatment for patients with iliac artery occlusion or stenosis.Methods Retrospective analysis was made on 105 cases of iliac artery occlusion or stenosis from January 2009 to April 2014.49 were with iliac artery occlusion and 56 with iliac artery stenosis.Results The demographics,and comorbidities were not statistically different between the 2 groups.The occlusion group had more critical limb ischemia and the ankle-brachial index was lower than the stenosis group.The occlusion group underwent more hybrid surgery and used more covered stents in the operation.The peri-operative complication was higher in the occlusion group,but the difference was not statistically different.The ABI improved significantly for all patients after surgery.The early patency rate was similar in the 2 groups.Conclusions Revascularization treatment for patients with iliac artery occlusion and stenosis was safe and effective,with similar early patency rate and peri-operative complications between the two groups.