Objective To analyze the relationship of total imaging burden score with blood pressure variability(BPV)and cognitive function in elderly patients with cerebral small vessel disease(CSVD).Methods Clinical data of 182 elderly CSVD patients admitted in our hospital from December 2022 to January 2024 were collected and analyzed retrospectively.According to the results of Chinese Guidelines for Diagnosis and Treatment of CSVD-Related Cognitive Dysfunc-tion(2019),Montreal Cognitive Assessment(MoCA)and other tools for their cognitive impair-ment,they were divided into cognitively impaired group(76 cases)and cognitively normal group(106 cases).The total burden score and BPV indicators[24 h systolic blood pressure coefficient of variation(24 h SBPCV),24 h diastolic blood pressure coefficient of variation(24 h DBPCV)]were compared between the two groups.ROC curve was plotted to evaluate the diagnostic value of total burden score,24 h SBPCV and 24 h DBPCV on cognitive impairment in elderly CSVD patients.Multivariate logistic regression analysis was used to identify the risk factors of cognitive impairment in the patients.Based on the MoCA score of the cognitively impaired group,these pa-tients were further assigned into mild and moderate-to-severe cognitive impairment subgroups[with a MoCA score of 18-25(43 cases)and＜18(33 cases),respectively].Then the total burden score,24 h SBPCV and 24 h DBPCV were compared between the two subgroups.Pearson correla-tion coefficient was adopted to evaluate the correlation of severity of cognitive impairment with total burden score,24 h SBPCV and 24 h DBPCV in the elderly CSVD patients.Results The total burden score,24 h SBPCV and 24 h DBPCV were significantly higher in the cognitively impaired group than the cognitively normal group(P＜0.01).ROC curve analysis indicated that total bur-den score(AUC=0.953,95％CI:0.926-0.980,P=0.000),24 h SBPCV(AUC=0.850,95％CI:0.795-0.906,P=0.000)and 24 h DBPCV(AUC=0.761,95％CI:0.690-0.832,P=0.000)had good diagnostic efficiency for cognitive impairment in the elderly CSVD patients,with a cut-off value of 1.5,11.82％,and 8.92％,respectively.Multivariate logistic regression analysis revealed that the above three indicators were risk factors for cognitive impairment in the elderly patients with CSVD(P＜0.05,P＜0.01).Their values were significantly lower in the mild than the moder-ate-to-severe cognitive impairment subgroups(P＜0.01).Pearson correlation analysis displayed that MoCA score was negatively correlated with total burden score,24 h SBPCV and 24 h DBPCV in elderly patients with CSVD(r=-0.755,-0.632,-0.601,P＜0.01).Conclusion Detection of total burden score and BPV indicators is beneficial to the assessment of cognitive impairment in elderly CSVD patients.The higher the total burden score and the greater the BPV indicators,the more severe the cognitive impairment is,which may explore new ideas for clinical diagnosis and treatment of CSVD.

Objective Exploring the relationship between residual cholesterol(RC)levels at admission and the risk of death after discharge in patients with ischemic stroke(IS).Methods Select 2021 IS patients aged 35-80 as the research subjects,and collect endpoint data on mortality after discharge.Using restricted cubic spline(RCS)regression,analyze the dose-response relationship between RC levels at admission and the risk of mortality outcomes in patients.Using Cox regression to calculate hazard ratio(HR)and 95％CI,analyze the association between RC levels at admission and mortality risk after discharge in IS patients.Results According to the RCS model,there is a non-linear correlation between RC levels and deaths from IS and other causes(P＜0.001).Using the median RC level as the cutoff value,the study subjects were divided into low-level RC group(RC＜0.72 mmol/L)and high-level RC group(RC ≥0.72 mmol/L).Compared with those in high level RC group,the age and male ratio in the low level RC group were significantly increased,and the levels of fasting blood glucose(GLU),total cholesterol(TC),triglyceride(TG),low-density lipoprotein cholesterol(LDL-C),non high-density lipoprotein cholesterol(HDL-C),apolipoproteins A-1(ApoA-1),apolipoproteins B(ApoB),TG/HDL-C,TG/HDL-C,LDL-C/HDL-C and diabetes ratio were significantly decreased(P＜0.05-0.01).Cox regression analysis showed that,when the covariates were not adjusted,compared with the low level RC group,the high level RC group showed a lower risk of all-cause death(HR=0.765,95％CI:0.619-0.946,P=0.013)and a lower risk of IS death(HR=0.638,95％CI:0.435-0.936,P=0.022);after adjusting for gender,age,smoking history,drinking history,hypertension history and diabetes history,the high level RC group still showed a lower risk of all-cause death(HR=0.760,95％CI:0.614-0.941,P=0.012)and lower IS mortality risk(HR=0.653,95％CI:0.444-0.961,P=0.031).Male(HR=0.753,95％CI:0.572-0.990,P=0.042),age≥65 years old(HR=0.755,95％CI:0.594-0.959,P=0.021),non-smoking(HR=0.746,95％CI:0.590-0.943,P=0.014),non-drinking(HR=0.735,95％CI:0.588-0.919,P=0.007),hypertension(HR=0.738,95％CI:0.580-0.940,P=0.014),without diabetes(HR=0.724,95％CI:0.561-0.934,P=0.013),high levels of RC(≥0.72 mmol/L)were statistically associated with risk of all-cause death reduced.Among patients with age ≥65 years old(HR=0.598,95％CI:0.391-0.916,P=0.018),non-smoking(HR=0.628,95％CI:0.408-0.967,P=0.035),non-drinking(HR=0.656,95％CI:0.439-0.979,P=0.039),without hypertension(HR=0.321,95％CI:0.108-0.957,P=0.041),without diabetes(HR=0.607,95％CI:0.389-0.947,P=0.028),RC ≥0.72 mmol/L was statistically associated with risk of death of IS reduced.After adjusting for age,gender,smoking history,drinking history,hypertension history and diabetes history,among men,age ≥ 65 years old,without diabetes,RC ≥ 0.72 mmol/L was not significantly associated with the increased risk of all-cause death(all P＞0.05);there was no significant correlation between RC ≥ 0.72 mmol/L and the increased risk of death of IS in patients with age ≥ 65 years old,non-smoking,non-drinking,non-hypertension and non-diabetes(all P＞0.05).Compared with the high-level RC group,the low-level RC group had a lower incidence of all-cause death,IS death,and other causes of death,and a higher survival rate.Conclusion The RC level of IS patients which is lower than 0.72 mmol/L at admission will increase the risk of all-cause death and IS death in the long term after discharge.

Objective To analyze the relationship of total imaging burden score with blood pressure variability(BPV)and cognitive function in elderly patients with cerebral small vessel disease(CSVD).Methods Clinical data of 182 elderly CSVD patients admitted in our hospital from December 2022 to January 2024 were collected and analyzed retrospectively.According to the results of Chinese Guidelines for Diagnosis and Treatment of CSVD-Related Cognitive Dysfunc-tion(2019),Montreal Cognitive Assessment(MoCA)and other tools for their cognitive impair-ment,they were divided into cognitively impaired group(76 cases)and cognitively normal group(106 cases).The total burden score and BPV indicators[24 h systolic blood pressure coefficient of variation(24 h SBPCV),24 h diastolic blood pressure coefficient of variation(24 h DBPCV)]were compared between the two groups.ROC curve was plotted to evaluate the diagnostic value of total burden score,24 h SBPCV and 24 h DBPCV on cognitive impairment in elderly CSVD patients.Multivariate logistic regression analysis was used to identify the risk factors of cognitive impairment in the patients.Based on the MoCA score of the cognitively impaired group,these pa-tients were further assigned into mild and moderate-to-severe cognitive impairment subgroups[with a MoCA score of 18-25(43 cases)and＜18(33 cases),respectively].Then the total burden score,24 h SBPCV and 24 h DBPCV were compared between the two subgroups.Pearson correla-tion coefficient was adopted to evaluate the correlation of severity of cognitive impairment with total burden score,24 h SBPCV and 24 h DBPCV in the elderly CSVD patients.Results The total burden score,24 h SBPCV and 24 h DBPCV were significantly higher in the cognitively impaired group than the cognitively normal group(P＜0.01).ROC curve analysis indicated that total bur-den score(AUC=0.953,95％CI:0.926-0.980,P=0.000),24 h SBPCV(AUC=0.850,95％CI:0.795-0.906,P=0.000)and 24 h DBPCV(AUC=0.761,95％CI:0.690-0.832,P=0.000)had good diagnostic efficiency for cognitive impairment in the elderly CSVD patients,with a cut-off value of 1.5,11.82％,and 8.92％,respectively.Multivariate logistic regression analysis revealed that the above three indicators were risk factors for cognitive impairment in the elderly patients with CSVD(P＜0.05,P＜0.01).Their values were significantly lower in the mild than the moder-ate-to-severe cognitive impairment subgroups(P＜0.01).Pearson correlation analysis displayed that MoCA score was negatively correlated with total burden score,24 h SBPCV and 24 h DBPCV in elderly patients with CSVD(r=-0.755,-0.632,-0.601,P＜0.01).Conclusion Detection of total burden score and BPV indicators is beneficial to the assessment of cognitive impairment in elderly CSVD patients.The higher the total burden score and the greater the BPV indicators,the more severe the cognitive impairment is,which may explore new ideas for clinical diagnosis and treatment of CSVD.

Objective Exploring the relationship between residual cholesterol(RC)levels at admission and the risk of death after discharge in patients with ischemic stroke(IS).Methods Select 2021 IS patients aged 35-80 as the research subjects,and collect endpoint data on mortality after discharge.Using restricted cubic spline(RCS)regression,analyze the dose-response relationship between RC levels at admission and the risk of mortality outcomes in patients.Using Cox regression to calculate hazard ratio(HR)and 95％CI,analyze the association between RC levels at admission and mortality risk after discharge in IS patients.Results According to the RCS model,there is a non-linear correlation between RC levels and deaths from IS and other causes(P＜0.001).Using the median RC level as the cutoff value,the study subjects were divided into low-level RC group(RC＜0.72 mmol/L)and high-level RC group(RC ≥0.72 mmol/L).Compared with those in high level RC group,the age and male ratio in the low level RC group were significantly increased,and the levels of fasting blood glucose(GLU),total cholesterol(TC),triglyceride(TG),low-density lipoprotein cholesterol(LDL-C),non high-density lipoprotein cholesterol(HDL-C),apolipoproteins A-1(ApoA-1),apolipoproteins B(ApoB),TG/HDL-C,TG/HDL-C,LDL-C/HDL-C and diabetes ratio were significantly decreased(P＜0.05-0.01).Cox regression analysis showed that,when the covariates were not adjusted,compared with the low level RC group,the high level RC group showed a lower risk of all-cause death(HR=0.765,95％CI:0.619-0.946,P=0.013)and a lower risk of IS death(HR=0.638,95％CI:0.435-0.936,P=0.022);after adjusting for gender,age,smoking history,drinking history,hypertension history and diabetes history,the high level RC group still showed a lower risk of all-cause death(HR=0.760,95％CI:0.614-0.941,P=0.012)and lower IS mortality risk(HR=0.653,95％CI:0.444-0.961,P=0.031).Male(HR=0.753,95％CI:0.572-0.990,P=0.042),age≥65 years old(HR=0.755,95％CI:0.594-0.959,P=0.021),non-smoking(HR=0.746,95％CI:0.590-0.943,P=0.014),non-drinking(HR=0.735,95％CI:0.588-0.919,P=0.007),hypertension(HR=0.738,95％CI:0.580-0.940,P=0.014),without diabetes(HR=0.724,95％CI:0.561-0.934,P=0.013),high levels of RC(≥0.72 mmol/L)were statistically associated with risk of all-cause death reduced.Among patients with age ≥65 years old(HR=0.598,95％CI:0.391-0.916,P=0.018),non-smoking(HR=0.628,95％CI:0.408-0.967,P=0.035),non-drinking(HR=0.656,95％CI:0.439-0.979,P=0.039),without hypertension(HR=0.321,95％CI:0.108-0.957,P=0.041),without diabetes(HR=0.607,95％CI:0.389-0.947,P=0.028),RC ≥0.72 mmol/L was statistically associated with risk of death of IS reduced.After adjusting for age,gender,smoking history,drinking history,hypertension history and diabetes history,among men,age ≥ 65 years old,without diabetes,RC ≥ 0.72 mmol/L was not significantly associated with the increased risk of all-cause death(all P＞0.05);there was no significant correlation between RC ≥ 0.72 mmol/L and the increased risk of death of IS in patients with age ≥ 65 years old,non-smoking,non-drinking,non-hypertension and non-diabetes(all P＞0.05).Compared with the high-level RC group,the low-level RC group had a lower incidence of all-cause death,IS death,and other causes of death,and a higher survival rate.Conclusion The RC level of IS patients which is lower than 0.72 mmol/L at admission will increase the risk of all-cause death and IS death in the long term after discharge.

Objective:To explore the value of magnetic resonance diffusion tensor imaging (DTI) in evaluating cerebrovascular small vessel disease (CSVD) in patients with systemic lupus erythematosus (SLE).Methods:Eighty-two patients with SLE combined with CSVD treated at Yixing People's Hospital from January to December 2022 were selected. They were divided into acute phase infarction group (16 cases), chronic phase infarction group (26 cases), and chronic ischemic lesion group (40 cases) based on routine MRI examination results. All patients underwent DTI examination to obtain the average diffusion coefficient (DCavg) and anisotropy score (FA) of the affected and contralateral normal white matter areas, and the evaluation value of DTI for CSVD in SLE patients was analyzed.Results:The DCavg value on the affected side of 82 patients was significantly higher than that on the healthy side: (11.10 ± 3.48) 10 -3 mm 2/s vs. (8.18 ± 2.42) 10 -3 mm 2/s, and the FA value on the affected side was significantly lower than that on the healthy side: 0.28 ± 0.05 vs. 0.45 ± 0.08, with a statistical significant differences ( P<0.05). The DCavg values of the acute infarction group, chronic infarction group, and chronic ischemic focus group were (11.88 ± 3.50), (9.69 ± 3.24) and (8.52 ± 2.34) 10 -3 mm 2/s, respectively, with statistical significant differences ( P<0.05). The FA values of the acute infarction group, chronic infarction group, and chronic ischemic focus group were 0.28 ± 0.04, 0.33 ± 0.06 and 0.40 ± 0.07, respectively, with statistical significant differences ( P<0.05). The receiver operating characteristic curve was drawn, and the results showed that the area under the curve (AUC) of the acute phase infarction group and the chronic phase infarction group evaluated by DCavg and FA alone and in combination were 0.757, 0.756, and 0.820, respectively. The AUC of the chronic phase infarction group and the chronic ischemic focus group evaluated by DCavg and FA were 0.772, 0.776, and 0.813, respectively. The AUC value of the combined evaluation was relatively large. Conclusions:DTI has good evaluation value for CSVD in SLE patients and can accurately determine the type of CSVD.

Objective:To investigate the clinical features and prognosis of male with anti-melanoma differentiation-associated gene 5 (MDA5) autoantibody.Methods:The clinical data of 246 patients with DM and anti-MDA5 autoantibodies hospitalized by Jiangsu Myositis Cooperation Group from 2017 to 2020 were collected and retrospectively analyzed. Chi-square test was performed to compared between counting data groups; Quantitative data were expressed by M ( Q1, Q3), and rank sum test was used for comparison between groups; Single factor survival analysis was performed by Kaplan-Meier method and Log rank test; Cox regression analysis were used for multivariate survival analysis. Results:①The male group had a higher proportion of rash at the sun exposure area [67.1%(47/70) vs 52.8%(93/176), χ2=4.18, P=0.041] and V-sign [50.0%(35/70) vs 30.7%(54/176), χ2=8.09, P=0.004] than the female group. The male group had higher levels of creatine kinase [112(18, 981)U/L vs 57 (13.6, 1 433)U/L, Z=-3.50, P<0.001] and ferritin [1 500 (166, 32 716)ng/ml vs 569 (18, 14 839)ng/ml, Z=-5.85, P<0.001] than the female group. The proportion of ILD [40.0%(28/70) vs 59.7%(105/176), χ2=7.82, P=0.020] patients and the red blood cell sedimentation rate[31.0(4.0, 101.5)mm/1 h vs 43.4(5.0, 126.5)mm/1 h, Z=-2.22, P=0.026] in the male group was lower than that of the female group, but the proportion of rapidly progressive interstitial lung disease (PR-ILD) [47.1%(33/70) vs 31.3%(55/176), χ2=5.51, P=0.019] was higher than that of the female group. ②In male patients with positive anti-MDA5 antibodies,the death group had a shorter course of disease[1.0(1.0, 3.0) month vs 2.5(0.5,84) month, Z=-3.07, P=0.002], the incidence of arthritis [16.7%(4/24) vs 42.2%(19/45), χ2=4.60, P=0.032] were low than those in survival group,while aspartate aminotransferase (AST)[64(22.1, 565)U/L vs 51(14,601)U/L, Z=-2.42, P=0.016], lactate dehydrogenase (LDH) [485(24,1 464)U/L vs 352(170, 1 213)U/L, Z=-3.38, P=0.001], C-reactive protein (CRP) [11.6(2.9, 61.7) mg/L vs 4.95(0.6, 86.4) mg/L, Z=-1.96, P=0.050], and ferritin levels [2 000(681, 7 676) vs 1 125 (166, 32 716)ng/ml, Z=-3.18, P=0.001] were higher than those in the survival group, and RP-ILD [95.8%(23/24) vs 22.2%(10/45), χ2=33.99, P<0.001] occurred at a significantly higher rate. ③Cox regression analysis indicated that the course of disease LDH level, and RP-ILD were related factors for the prognosis of male anti-MDA5 antibodies [ HR (95% CI)=0.203(0.077, 0.534), P=0.001; HR (95% CI)=1.002(1.001, 1.004), P=0.003; HR (95% CI)=95.674 (10.872, 841.904), P<0.001]. Conclusion:The clinical manifestations of male anti-MDA5 antibody-positive patients are different from those of female. The incidence of ILD is low, but the proportion of PR-ILD is high. The course of disease, serum LDH level, and RP-ILD are prognostic factors of male anti-MDA5 antibody-positive patients.

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.