Objective To investigate the predictive value of combining polygenic risk score(PRS)with the National Institutes of Health Stroke Scale(NIHSS)socre for the development of deep venous thrombosis(DVT)in patients with ischemic stroke.Methods A total of 150 patients with ischemic stroke who were hos-pitalized in Jilin Provincial People's Hospital from December 2023 to May 2024 were selected as study sub-jects.After excluding patients who did not meet the criteria,139 patients were successfully followed up and di-vided into two groups based on whether DVT occurred.PRS strategy and fluorescence in situ hybridization(FISH)technology were used to detect the mutation of the gene loci associated with the risk of venous throm-boembolism(VTE).Based on these genotype data and the effect size of single nucleotide polymorphism(SNP)loci,the PRS score of patients was calculated through the model formula.The degree of neurological impairment was evaluated by NIHSS score.Receiver operating characteristics(ROC)curve was used to ana-lyze the efficacy of PRS score,NIHSS score and their combination in predicting ischemic stroke with lower limb DVT,and clinical data related to VTE formation were collected.Results There were no statistically sig-nificant differences between the two groups in terms of gender,age,body mass index(BMI),smoking,alcohol consumption,hypertension,diabetes,D-dimer(D-D),total cholesterol(TC),triglycerides(TG),and lipopro-tein(a)[(LP(a)]levels(P＞0.05).The PRS score,NIHSS score,and Barthel index in the DVT group were significantly higher than those in the non-DVT group,and the proportion of patients with bed rest exceeding 72 h and homocysteine(Hcy)levels were also relatively higher,with statistical significance(P＜0.05).Logis-tic regression analysis showed that PRS score＞2.55,NIHSS score ≥-3 and Barthel index＜60 were inde-pendent risk factors for lower limb DVT after ischemic stroke(P＜0.05).ROC curve analysis results showed that the area under the curve(AUC)of PRS score,NIHSS score and combined prediction of ischemic stroke combined with lower limb DVT were 0.655,0.747 and 0.763,respectively,and the AUC of combined predic-tion was higher than that of single prediction(P＜0.05).Conclusion PRS score combined with NIHSS score has good predictive efficacy for ischemic stroke complicated with DVT.

Objective The aim of this study was to evaluate the efficacy and side effects of sacubitril/valsartan in the treatment of patients with chronic kidney disease(CKD)at stage 5 with resistant hypertension,and to explore the cardiovascular benefits and security of medical in the patients.Methods Patients with CKD5 resistant hypertension diagnosed and treated in the First Affiliated Hospital of Guangxi Medical University from September 2020 to March 2022 were selected and divided into the observation group(treated with routine treatment of kidney disease at end-stage and sacubitril/valsartan)and control group(include droutine treatment of renal disease at end-stage and ACEI or ARB drugs)according to treatment strategy.The patients in both two groups were treated with adequate dialysis treatment and conventional drug treatment of renal disease at end-stage.The patients were followed up for at least 3 months,the clinical efficacy of three months after treated with sacubitril/valsartan was observed,and the efficacy indicators and security indicators and adverse cardiovascular events were observed,the occurrence of adverse effects during the period of drug use were compared with the control group.Results A total of 110 patients were included in this study and there were 55 cases in each group.There were no significant differences in gender,age,age of dialysis,etiology,dialysis mode and blood pressure between the two groups(P>0.05).The Systolic blood pressure(SBP),diastolic blood pressure(DBP),b-type urinary natriuretic peptide precursor(Pro-BNP)and cardiac function grade in the observation group after treatment was significantly decreased compared with before treatment.The left ventricular ejection fraction(LVEF)and the ratio of LVEF<50%in the observation group was significantly reduced after treatment(P<0.05).SBP,DBP and Pro-BNP decreased 3 months after treatment compared with the baseline before treatment,and improved significantly in the first month after treatment(P<0.05).The decrease of DBP and BNP before and after treatment was significantly different between the two groups,and the decrease of DBP and BNP was more significant in the observation group(P<0.05).The difference of LVEF and left ventricular end diastolic diameter(LVEDD)between the two groups before and after treatment was statistically significant,and the improvement was more obvious in the observation group(P<0.05).There were no significant differences in the safety indicators of serum potassium,estimated glomerular filtration rate(eGFR)and liver function between two groups before and after treatment(P>0.05).In terms of adverse reactions,only 1 case in the control group developed hyperkalemia within 3 months of follow-up,and no hypotension or other adverse reactions occurred in the two groups.Conclusions The treatment of patients with CKD stage 5 hypertension with sacubitril/valsartan has obvious cardiovascular benefits.Sacubitril/Valsartan has efficacy in lowering blood pressure,improving cardiac function and reducing volume load,with less adverse events and higher safety than control group.

Objective To analyze the epidemiological characteristics and epidemic situation of children with Kashin-Beck disease (KBD) in China,and provide the basis for formulating prevention and control measures. Methods Fixed-point monitoring,moving-point monitoring,and full coverage of monitoring were promoted successively from 1990 to 2023. Some children (7-12 years old) underwent clinical and right-hand X-ray examinations every year. According to the KBD diagnosis criteria,clinical and X-ray assessments were used to confirm the diagnosis. Results In 1990,the national KBD detectable rate was 21.01％. X-ray detection decreased to below 10％ in 2003 and below 5％ in 2007. Between 2010 and 2018,the prevalence of KBD in children was less than 0.4％,which fluctuated at a low level,and has decreased to 0％ since 2019. Spatial epidemiological analysis indicated a spatial clustering of adult patients prevalence rate in the KBD areas. Conclusion The evaluation results of the elimination of KBD in China over the last 5 years showed that all villages in the monitored areas have reached the elimination standard. While the adult KBD patients still need for policy consideration and care.

Objective:To compare the importance of 11 common influencing factors for fall and fall-induced injury reported previously in the elderly.Methods:The data were collected from the follow-up of the China Health and Retirement Longitudinal Study (CHARLS) between 2011 and 2018. Binary logistic regression model and negative binomial regression model were used to test the significance of correlations between 11 factors and the incidence of fall and fall-induced injury during this period. The absolute value of the β^ was used to evaluate importance of 11 influencing factors. Results:This study included 9 279, 6 153, 4 142, 4 148, and 3 583 old persons. The cumulative incidence rates of fall in the 2 nd, 3 rd, 4 th, 5 th, and 7 th years were 19.4% (95% CI: 18.6%-20.2%), 22.1% (95% CI: 21.0%-23.1%), 31.9% (95% CI: 30.4%-33.3%), 35.1% (95% CI: 33.6%-36.5%), and 43.2% (95% CI: 41.6%-44.8%), respectively. The cumulative incidence rates of fall-induced injury were 8.4% (95% CI: 7.8%-8.9%), 9.4% (95% CI: 8.7%-10.1%), 15.1% (95% CI: 14.0%-16.2%), 16.2% (95% CI: 15.1%-17.3%), and 22.0% (95% CI: 20.6%-23.3%). The results of multivariate logistic regression and negative binomial regression analyses showed that in the 11 factors, only gender, history of fall, and depressive symptoms were identified as common risk factors for fall and fall-induced injury in the elderly in all the follow up visits (all P<0.05); the history of fall had the highest absolute value of β^ in all models, while gender ranked second except for the 5-year fall-induced injury model. Conclusions:Of the 11 influencing factors for fall and fall-induced injury reported by previous literature, only gender, history of falls, and depressive symptoms were identified as common risk factors for fall and fall-induced injury in the eldely in the 2 nd, 3 rd, 4 th, 5 th, and 7 th years follow-up visits. History of fall and gender were important influencing factors for fall and fall-induced injury in the elderly.

Objective:To investigate the dynamic prevalence of Kashin-Beck disease (KBD) in 2020, and to provide the basis for assessment of KBD control and elimination.Methods:According to the "Kashin-Beck Disease Monitoring Plan (2019 Edition)", collection of basic information of endemic areas and children KBD examination were executed in all endemic areas from every endemic county (city, district, banner) of 13 endemic provinces. All children aged 7 - 12 years in endemic areas underwent clinical examination, X-ray examination was performed for clinically positive children. According to the criteria of "Diagnosis of Kashin-Beck Disease" (WS/T 207-2010), KBD cases were diagnosed by both clinical examination and X-ray check.Results:In monitoring of 827 986 children of 7 - 12 years old, a total of 703 children with similar clinical signs of KBD were suspected positive cases. X-ray results showed that 703 children were normal, with no X-ray positive change, they were not children KBD cases.Conclusions:In 2020, no cases of Kashin-Beck disease are detected in children nationwide, and the condition of Kashin-Beck disease in children nationwide continues to be at a level of elimination.

Objective:To analyze the clinical characteristics and genetic variation of 2 children with developmental and epileptic encephalopathy 8 (DEE8).Methods:Whole-exome sequencing (WES) was performed to determine the potential variants in the probands. Candidate variants identified by WES were validated by Sanger sequencing and quantitative real-time polymerase chain reaction. X chromosome inactivation (XCI) detection was performed in the proband 1′s mother and proband 2 to detect the allelic expression difference of ARHGEF9. Results:Both of the cases showed global developmental delay. Proband 1 presented with delayed motor and speech development, intellectual disability, and seizures. Electroencephalography of proband 1 showed slow background activity, with spikes, spike and waves in bilateral frontal and midline regions during sleep. While proband 2 showed delay in acquisition of language, motor skills, and cognition, but no seizures. It was identified that proband 1 carried a novel maternally derived heterozygous splicing variant (c.925-2A>T) in ARHGEF9 by WES, which was verified in Sanger sequencing. The XCI in proband 1′s mother was observed, and the expression ratio of mutant ARHGEF9 and wild-type was 0∶100%. A novel exon 3-10 heterozygous deletion of ARHGEF9 was identified in proband 2, and this variant was not found in his unaffected parents. Conclusions:DEE8 disorders are relatively rare. Most of the patients have varying degrees of neurodevelopmental phenotype, but epilepsy is not a specific clinical manifestation. ARHGEF9 gene deletion and splicing variation may be the genetic cause of the 2 probands, and above findings have enriched the spectrum of variation and phenotype of DEE8.

Objective To explore the relationship between m6A RNA methylation regulators and prognosis of prostate cancer.Methods Clinicopathological and mRNA-related data of 496 cases of prostate cancer were downloaded from the Cancer Genome Atlas(TCGA)database,and 12 m6A regulators were identified:METTL3,METTL14,WTAP,RBM15,ZC3H13,YTHDC1,YTHDC2,YTHDF1,YTHDF2,HNRNPC,FTO,and ALKBH5.The m6A regulators differentially expressed in prostate cancer samples were screened.Unsupervised clustering of prostate cancer tissues was used to compare differences in overall survival.Multivariate Cox regres-sion analysis was used to divide patients into high-and low-risk groups according to the risk scores,and survival rates were compared.The risk score of clinicopathological factors was determined,and a multivariate Cox regression analysis model was constructed to evaluate the prognostic prediction value.Immunohistochemical staining was performed to detect METTL14 and FTO expression in prostate cancer tis-sues.Results Eight differentially expressed regulators were screened from 12 m6A regulators.Unsupervised cluster analysis divided the samples into Clusters 1,2,and 3 and found significant differences in survival time in all three groups.Multivariate Cox regression analyses revealed that METTL14and FTOwere strongly associated with the prognosis of patients with prostate cancer.A Cox regression model con-structed to score the risk of prostate cancer revealed that the high-and low-risk groups had survival differences,and the risk score could be used as an independent prognostic factor.The positive expression rates of METTL14 and FTO protein in prostate cancer tissues were significantly higher than those in adjacent tissues(P<0.05).Conclusion In this study,a prognostic prediction model based on m6A regulators of prostate cancer was constructed,in which the risk score could be used as an independent prognostic factor.METTL14and FTOcould be used as molecular markers for the diagnosis of prostate cancer and as potential targets for treatment.

Objective:To explore the method and effect of aesthetic reconstruction of distal segment of finger with modified second toe nail flap while retains the full length of the second toe.Methods:From April 2018 to June 2020, 16 patients with degloving injury of distal segment of fingers were treated. The patients were 11 males and 5 females aged 18 to 45 years in an average of 29 years. All injuries were degloving injury of the distal segment of finger, including 5 index fingers, 7 middle fingers, 3 ring fingers and 1 little finger. The time from injury to operation was 0.5-3.0 hours, with an average of 1.5 hours. The second toe nail flap was used for the reconstruction. After the dorsal flap of the second toe was rotated to the plantar side of the foot, the donor site defect was repaired by a skin graft. The regular follow up reviews were carried out.Results:All 16 flaps survived except 1 flap had necrosis and underwent toe amputation of the distal segment of the second toe. All patients entered follow-up for 4-12 months, with an average of 5.7 months. The blood supply of all flaps was good. After the flaps having atrophied, they were equivalent to the diameter of the body of normal fingers with the TPD at 6.5(4-10) mm; All patients returned to work. According to the Evaluation Standard of Upper Limb Function of Chinese Hand Surgery Society, 13 cases were graded as excellent, 2 were good and 1 was fair.Conclusion:The techniques of modified second toe toenail flap in aesthetic reconstruction of the distal segment of a finger can effectively restore the length and aesthetic appearance of the affected finger, without sacrificing the donor toe. Clinical application of it should be promoted.

Objective:To investigate the effects of glucosamine sulfate, chondroitin sulfate and diacerein on liver function in patients with Kashin-Beck disease.Methods:According to the criteria of "Diagnosis of Kashin-Beck Disease" (WS/T 207-2010), 333 cases of Kashin-Beck disease were selected from the disease severely affected areas, and randomly divided into 3 groups according to the matching principle of age, gender and disease grading: glucosamine sulfate group (group A, 118 cases), chondroitin sulfate group (group B, 99 cases) and diacerein group (group C, 116 cases), and the patients in each group were treated for 180 days. Fasting venous blood samples were collected from the patients in the three groups at 0, 90 and 180 days after treatment. Serum was separated. The biochemical analyzer was used to determine the serum levels of albumin (ALB), alkaline phosphatase (ALP), alanine aminotransferase (ALT), aspartate aminotransferase (AST), direct bilirubin (DBIL), glutamyl transpeptidase (GGT), total bilirubin (TBIL), and total protein (TP) of the three groups of patients.Results:There was no difference in the expression levels of 8 liver function indexes between the groups on day 0 of treatment ( P > 0.05). After 90 days of treatment, the expression level of GGT in group B was higher than that in group A ( P < 0.05); compared with 0 day of treatment, ALB levels of groups A, B and C were all decreased, ALP and TBIL levels increased ( P < 0.05), the abnormal expression rate of ALB index decreased in all the three groups ( P < 0.001), the abnormal expression rate of TBIL index in group A was decreased ( P = 0.006). After 180 days of treatment, ALB level of group B was higher than that of group A, ALP level of group B was higher than that of groups A and C, and AST level of group B was higher than that of group C ( P < 0.05); compared with 90 days of treatment, ALB levels of groups A, B and C were all increased, ALP, ALT and AST levels of groups A and C were decreased, GGT levels of groups B and C were decreased ( P < 0.05); compared with 0 day of treatment, the abnormal expression rate of ALB index increased in all the three groups at 180 days of treatment ( P < 0.001), and the abnormal expression rate of ALP index decreased in group C ( P = 0.031). Conclusion:The liver function indicators ALB, ALP and TBIL should be monitored when taking the three oral drugs for a short time, especially the GGT, ALP and AST indicators when taking chondroitin sulfate for a long time.

Objective:To investigate the influence of infarct vessel diameter, blood flow before operation, blood flow status after operation, coronary artery disease, number of coronary artery lesions and other risk factors on the levels of inflammatory factors IL-1, IL-6, IL-10 in the coronary blood of patients with acute coronary syndrome (ACS), and to determine the relationship between inflammatory factors and ACS and its impact on clinical status.Methods:The peripheral blood and coronary blood of 54 patients with ACS underwent emergency interventional treatment were collected before the operation. The level of IL-1, IL-6, and IL-10 in the blood sample was detected by an automatic biochemical analyzer.Results:Postoperative adverse cardiac events were positively correlated with the patient's age, D-to-B time, and the number of coronary artery lesions (all P<0.05). The levels of IL-1, IL-6 and IL-10 in coronary blood of ACS patients were higher than those in peripheral blood (all P<0.05). The number of coronary artery disease branches (≥3), the onset time of myocardial infarction (>4 h), diabetes mellitus, ischemic post-treatment, preoperative blood flow level ( 2.5 mm, coronary artery disease number ≥ 3, severe right coronary artery disease, preoperative blood flow 22 frames, and cardiovascular events, the IL-10 levels are higher (all P<0.05). Conclusions:The levels of inflammatory factors IL-1, IL-6, and IL-10 in coronary blood of ACS patients are higher than those in peripheral blood, suggesting that acute coronary artery originates from local coronary inflammatory reaction, and the increase of inflammatory factors in peripheral blood belongs to "Erosion" effect. The level of inflammatory factors is significantly related to the diameter of the diseased blood vessel, preoperative blood flow, the number of coronary artery disease, the location of myocardial infarction, diabetes and smoking history.