Aim of the study: Polymorphisms of DNA repair enzyme gene may alter the ability of damage repair, ischemic stroke susceptibility and outcome. This study aimed to explore the association of polymorphisms in PARP1 and the effects of interactions between genes in Chinese.Materials and methods: A total of 500 patients and 500 healthy controls were enrolled for genotyping. Results: Clinical information analysis revealed higher levels of alcohol and smoking exposure in patients with ischemic stroke, as well as chronic conditions such as diabetes, hypertension, and higher serum triglycerides concentration. In addition, Polymorphism in PARP1 rs8679 was significantly associated with the decreased ischemic stroke risk. Patients harboring the PARP1 rs8679 AG/GG genotype had a better initial stroke, and as for the mRNA level of PARP1, it was suppressed with mutant genotype in comparison with the wild genotype. Finally, the suppressed of PARP1 was induced by gain-binding ability of miR-124-5p through 3'UTR directly binding.Conclusions: In conclusion, our study demonstrates that the SNP rs8679 in PARP1 3 '-UTR might act as a protective factor for the outcome of patients with ischemic stroke.

Objective To analyze the application effect of low frequency impulse-electrotherapy combined with early rehabilitation training to improve function of patients with ischemic stroke. Methods 60 patients with ischemic stroke from July 2018 to June 2021 in our hospital were selected, and randomly divided into the observation group and the control group, each group included 30 patients.The observation group used low frequency impulse-electrotherapy combined with early rehabilitation training and the control group used conventional treatment.The NIHSS score, FMA score and Barthel index score was compared between the two groups. Results After 3 months of treatment, the NIHSS scores were decreased in both groups, and the NIHSS score of the observation group was lower than that of the control group（P＜0.05）. The FMA score and Barthel index score in the observation group were significantly higher than the control group（P＜0.05）. Conclusion Targeted low-frequency pulse electrical stimulation combined with early rehabilitation training can help patients with for stroke ischemic stroke in the recovery of neurological function and motor function, and can improve the daily living ability of patients

Objective To explore the alteration of pattens of anatomical and functional connectivity (FC) of posterior cingulate cortex (PCC) in Parkinson’s disease (PD) patients with cognitive dysfunction and the relationship between the connection strengths and cognitive state. Methods We prospectively enrolled 20 PD patients with mild cognitive impairment (PD-MCI), 13 PD patients with normal cognition (PD-NC) and 13 healthy controls (HCs). By collecting, preprocessing and FC analyzing resting-state functional magnetic resonance imaging (rs-fMRI) data, we extracted default mode network (DMN) patterns, compared the differences in DMN between the three groups and the analyzed the correlation between FC value with the commonly used neuropsychological testing. Results The PD-MCI showed significant worse performances in general cognition, and PD-NC and HCs showed comparable performances of cognitive function. Cognitive-related differences in DMN were detected in the bilateral precuneus (BPcu). Compared with the HCs, PD-NC and PD-MCI showed significantly decreased FC within BPcu (both P < 0.001). For PD-MCI, the rho of the Fisher’s Z-transformed FC (zFC) value within BPcu with the TMTA, DSST and CFT-20min were 0.50, 0.66 and 0.47, respectively. For PD-NC, the rho of the zFC value within BPcu with the MMSE was 0.58. Discussion BPcu was the cognitive-related region in DMN. As cognition declines, FC within BPcu weakens. For PD-MCI, the higher the FC values within BPcu were likely to be related to the better the performances of TMTA, DSST and CFT-20 min DR, which needs to be further confirmed by large-sample studies.

Pituitary adenomas (PA) are neoplasms that arise predominantly in the adenohypophysis. They are generally divided into three categories depending on their biological behavior: benign adenomas, invasive adenomas, and carcinomas. They represent 10%-25% of all intracranial neoplasms, and their estimated prevalence in the general population is 17%. RAB7L1, located at the PARK16 locus, is a Rab GTPase key regulator in vesicle trafficking. Recent genome-wide association studies have linked variants in RAB7L1 to the risk of Parkinson's disease. However, the association between RAB7L1 and PAs is still unexplored. Thirty patients with pituitary adenomas who had undergone surgical resection at Jiangyin People's Hospital (Jiangsu, China) from 2014 to 2019 were selected. The RAB7L1 expression level was assessed by qPCR, Western blot, and immunohistochemical staining. The level of the RAB7L1 differential expression was closely related to the patients' age and size of the PAs. In contrast, the RAB7L1 expression level was found to be unrelated to gender, Knosp classification, or type of PA. Our study found that the RAB7L1 expression level was higher in adenoma tissues from older PA patients, and the RAB7L1 expression level was higher in adenoma tissues from patients with smaller adenomas (size≤2cm) than those with larger adenomas (size>2cm).

OBJECTIVE:To determine the effect of PARP1 polymorphism on gene interactions.METHODS:A total of 500 patients and 500 healthy controls were enrolled.RESULTS:Analysis of clinical data showed that patients with stroke, diabetes, hypertension, and elevated serum triglyceride levels had higher levels of alcohol and smoking. The polymorphism of PARP1rs8679 was inversely associated with the risk of ischemic stroke. Patients with PARP1rs8679AG/ GG genotypes had a lower incidence of an initial stroke. Compared with the wild genotype, mRNA levels of PARP1 were reduced. MiR-124-5p directly induced PARP1 inhibition through the gain binding ability of 3 'UTR binding.CONCLUSION:Single nucleotide polymorphism (SNP) rs8679 in PARP13'UTR can prevent ischemic stroke.

目的 评价替格瑞洛治疗氯吡格雷抵抗的大动脉粥样硬化性脑梗死患者的疗效和安全性.方法 选取2019年4月至2020年10月于江苏省江阴市人民医院神经内科就诊并经基因检测证实存在氯吡格雷抵抗的78例急性大动脉粥样硬化性脑梗死患者为研究对象,采用随机数字表法分为对照组和观察组,每组各39例.对照组给予氯吡格雷+阿司匹林,观察组给予替格瑞洛+阿司匹林,连续治疗1个月后两组均改为阿司匹林单一药物长期治疗.比较分析两组患者治疗前后腺苷二磷酸(adenosine diphosphate,ADP)诱导的血小板抑制率、临床疗效以及治疗期间有无严重出血事件发生和不良反应发生情况.结果 治疗前,两组患者ADP诱导的血小板抑制率比较差异无显著性(P>0.05);治疗1个月后两组患者血小板抑制率均较治疗前升高,且观察组血小板抑制率明显高于对照组,差异均有显著性(P<0.05).观察组患者治疗14d、1个月、3个月后的总有效率均显著高于对照组(P<0.05).治疗期间两组患者均无严重出血事件发生,两组患者不良反应发生率比较差异无显著性(P>0.05).结论 对存在氯吡格雷抵抗的大动脉粥样硬化性脑梗死患者,替格瑞洛可有效提高其血小板抑制率,改善神经功能受损程度,且安全性较高.

目的:探究阿格列汀联合高压氧舱内运动意念对糖尿病伴无症状脑梗死(SBI)功能损害的疗效.方法:采用前瞻性研究方法,选取近年我院收治的170例2型糖尿病伴SBI患者的临床资料,按照治疗方法不同分为两组各85例,对照组采用阿格列汀治疗,观察组在此基础上联合高压氧舱内运动意念治疗,对比两组治疗效果及认知功能变化.结果:观察组总有效率为85.9％,高于对照组的65.9％(P<0.05).观察组治疗后的MoCA评分(27.58±0.23)分,高于对照组的(24.32±0.28)分(P<0.05).结论:对糖尿病伴SBI患者实施阿格列汀联合高压氧舱内运动意念治疗能进一步提高临床疗效,改善神经功能缺损及认知功能.

目的 研究脑卒中患者应用区域三级康复网络服务后的临床效果.方法 回顾性分析2017年1月至2018年12月江阴市第五人民医院收治的90例脑卒中患者,依据采取的康复治疗方法不同,分为研究组与对照组,各45例.研究组应用区域三级康复网络服务,对照组选取常规治疗.比较两组简化Fugl-Meyer运动功能量表评分、改良Barhel指数量表评分.结果 研究组在进入一级康复治疗15?d时、转入二级康复治疗90?d时、转入三级社区康复治疗60?d时的简化Fugl-Meyer运动功能量表评分、改良Barhel指数量表评分均显著高于对照组(P<0.05).结论 建立具有统一转诊流程以及康复治疗方案、完备患者信息数字网络平台,统一康复医师技能培训的区域三级康复网络,能够有效改善脑卒中患者的肢体运动功能和日常生活活动能力.

Objective:To detect the changes in mental arithmetic competence and the related influencing factors in patients with early Parkinson's disease(PD)by using mental arithmetic task behavioral experiment.Methods:Thirty-one patients with early PD and 40 healthy controls were enrolled in this study.The cognitive functions were tested by mini-mental state examination(MMSE)and Montreal cognitive assessment(MoCA). The differences of mental arithmetic competence between the two groups were measured by behavioral experiment.Results:There was no significant difference in correct rate, reaction time and post-corrected reaction time while performing baseline tasks and easy mental arithmetic tasks between the two groups( P>0.05). The reaction time had no significant difference between the two groups after adjusting some confounding factors( P>0.05). However, the correct rate while performing difficult mental arithmetic tasks was significantly lower( t=-2.232, P=0.029)and the reaction time was significantly longer( t=2.149, P=0.035)in PD group than in the controls, and the significant difference in reaction time persisted even after adjusting some confounding factors( t=3.139, P=0.003). In PD group, the correct rate of difficult mental arithmetic tasks was positively associated with MoCA scores( r=0.561, P=0.004), and negatively associated with age( r=-0.532, P=0.008). The reaction time and post-corrected reaction time while performing difficult metal arithmetic task were negatively associated with MoCA scores( r=-0.525, P=0.01; r=-0.554, P=0.005)and positively associated with age( r=0.485, P=0.037; r=0.514, P=0.012)in PD group. Conclusions:The difficult mental arithmetic competence is impaired in early PD patients, which is statistically significantly correlated with cognitive function and age.

Background Brain-derived neurotrophic factor (BDNF) is the most abundant neurotrophin, which contributes to the neuronal survival and synaptic plasticity. This study investigated the associations of BDNF polymorphisms at the 3ʹ-untranslated region with risk and outcome of ischemic stroke in a Chinese Han population. Methods 500 patients and 520 controls were enrolled for BDNF rs7124442 genotyping. The binding of miR-922 to BDNF rs7124442 was examined by luciferase assay; BDNF expression was assessed using qRT-PCR. Results Alcohol consumption, cigarette smoking, diabetes, hypertension (all P < 0.001) and higher serum triglycerides concentration (P = 0.009) were associated with an increased risk of developing ischemic stroke. After adjusted for age and sex, logistic regression analysis showed that IS patients harbored with rs7124442 TC genotype had a milder initial stroke (Dominant model: OR = 0.45, 95% CI = 0.25–0.81, P = 0.015), and also showed a better short-term recovery (Dominant model: OR = 0.39, 95% CI =0.24–0.68, P = 0.003). Furthermore, we found that co-transfection of hsa-miR-922 mimics with BDNF 3ʹ-UTR containing the mutated allele C changed luciferase activity when compared to co-transfection with BDNF 3ʹ-UTR containing the wild-type allele. Besides, patients carrying BDNF rs712444 TC or CC genotype had an increased level of BDNF compared with patients with the TT genotype. Conclusion Our study demonstrates that the SNP rs7124442 in BDNF 3ʹ-UTR, through affecting the regulatory role of miR-922 in BDNF expression, might act as a protective factor for the outcome of patients with ischemic stroke.

目的:评价江阴市三级康复网络的脑卒中康复治疗效果.方法:选取江阴市人民医院和第五人民医院2016年1月到2017年5月收治的240例的脑卒中患者.随机分为双向转诊组(n=120)和对照组(n=120).双向转诊组通过三级康复网络双向转诊完成康复治疗;对照组仅在一家医院完成康复治疗.比较分析两组患者住院时间、治疗费用、改良Barthel指数(MBI)、Fugl-Meyer运动功能量表(FMMS).结果:双向转诊组住院时间比对照组显著增加(P<0.05),总治疗费用显著降低(P<0.05).双向转诊组康复治疗后MBI及FMMS评分,康复治疗后60天和90天MBI及FMMS评分显著高于同期对照组(P<0.05).年龄、发病类型、是否双向转诊、住院时间、FMMS评分是康复治疗后生活能力的独立影响因素.结论:江阴市三级康复网络规范化的双向转诊有助于提高康复疗效并降低治疗费用.

Objective To investigate the relationship between two single nucleotide polymorphisms (rs356219,rs356165 sites) and cognitive dysfunction in Parkinson disease.Methods 236 patients with Parkinson's disease were randomly selected from November 2014 to November 2017.According to the results of MoCA cognitive function evaluation,the patients were divided into group A (cognitive dysfunction group)and group B (normal cognition group).At the same time,65 patients were randomly selected as group C (Health control group).The allele frequency and genotype distribution of rs356219 and rs356165 were compared,and the differences among the three group were compared.Results In the rs356165 allele frequency,group A (G:57.14％,A:42.86％),group B (G:56.45％,A:43.55％) and group C (G:52.31％,A:47.69％) had no statistical significance (P＞ 0.05).In the rs356165 genotype,G/G (21.43％) and A/A (14.29％) in group A were higher than group C (G/G:4.62％,A/A:1.54％),G/G (22.58％) in group B and A/A (14.52％) were higher than group C G/G (4.62％) and A/A (1.54％) (P＜ 0.05).In the rs356219 allele frequency,group A (G:64.29％,A:64.29％) and group B (G:64.52％,A:35.486％) and group C (G:46.15％,A:53.85％) was statistically significant (P＜0.05),but no statistical significance between group A and group B (P＞0.05);In the rs356219 genotype,group A (G/G:35.71％,A/A:21.43％,A/G:42.86％),group B (G/G:35.48％,A/A:22.58％,A/G:41.94％) and group C (G/G:30.77％,A/A:26.15％,A/G:43.08％) had no statistical significance (P＞ 0.05),and there was no statistical significance between group A and group B (P＞0.05).Conclusions The polymorphism of rs356219 and rs356165 sites in rho-synaptic nucleoprotein plays an important role in the pathogenesis of Parkinson disease.However,there was no correlation with cognitive dysfunction in patients with Parkinson disease.

AIM:Polymorphisms of DNA repair enzyme gene may alter the ability to repair damage and in turn may contribute to ischemic stroke susceptibility and outcome.METHODS:We selected 316 ischemic stroke patients and 302 healthy controls. Then we genotyped SNPs of PARP-1 rs3219119, rs2271347 and APE1 rs1130409 in patient and control groups.RESULTS:Polymorphism in PARP-1 rs2271347 was significantly associated with increased ischemic stroke risk (additive model: OR: 1.74; 95% CI: 1.03-2.93; p = 0.037). Patients harboring the PARP-1 rs2271347 GA/AA genotype had a worse initial stroke (additive model: OR: 1.85; 95% CI: 1.10-3.11; p = 0.021).CONCLUSION:Our study suggests that genetic variant of rs2271347 may contribute to the etiology of ischemic stroke.

Objective:To explore the relationship between cognitive dysfunction and blood acid changes in patients with Parkinson disease,and to analyze the influence factors of cognitive dysfunction.Methods:Totally sixty patients with Parkinson disease in our hospital from January 2014 to December 2016 were enrolled.The cognitive impairment was assessed using Montreal Cognitive Assessment Scale(MoCA)and the patients was graded using Hoehn & Yahr Parkinson disease severity(H-Y).The age,sex,gender,course of disease and education level were retrospectively analyzed to explore the relevant factors of cognitive dysfunction.The levels of serum uric acid and urine microalbumin were detected and compared with healthy subjects(60 cases),and the relationship of blood uric acid and cognitive impairment was analyzed.Results:The level of serum uric acid in Parkinson disease group was(258.0 ± 55.6)μmol/L,being significantly lower than that in healthy group ([328.6 ± 50.8]μmol/L),while the level of urine microalbumin was not significantly different between two groups.No significant difference was found between patients in early stage and advanced stage.In patients with cognitive dysfunction,the level of serum uric acid was(235.6 ± 65.3)μmol/L,being significantly lower than that in patients without cognitive impairment([272.3 ± 60.3]μmol/L,P< 0.05).MoCA score of Parkinson patients was positively correlated with level of serum uric acid and duration of education,and was negatively correlated with course of disease and H-Y grade.Conclusions:Uric acid in serum may be involved in pathogenesis of cognitive impairment in Parkinson disease.Intervention of serum uric acid level is helpful to delay the course of disease.

Single-nucleotide polymorphisms (SNPs) play an important role in our susceptibility to disease, the severity of illness and the way our body responds to treatment. This study evaluated the impact of three polymorphisms on the susceptibility and functional outcome of ischemic stroke (IS). Three hundred and eight patients and 300 healthy volunteers were enrolled. Polymorphisms of NOX4 rs11018628, MTHFR rs1801133 and NEIL3 rs12645561 were detected in both groups. Smoking (P<0.001), drinking (P<0.001), hypertension (P<0.001) and diabetes (P=0.006), as traditional vascular risk factors for IS, were confirmed in our study. Logistic regression analyses with adjustment for age, sex, smoking, drinking, diabetes, hypertension and total cholesterol showed that the variant genotypes of NOX4 rs11018628 were associated with a significantly decreased risk (Dominant model: OR=0.32, 95% CI=0.22-0.48, P<0.001) and a better short-term recovery of IS (Dominant model: OR=0.57, 95% CI=0.35-0.95, P=0.029). This study demonstrates that the NOX4 rs11018628 SNP is associated with decreased risk in developing IS and better short-term recovery of patients. This suggests that the genetic variant of NOX4 rs11018628 may contribute to the etiology of IS.

Objective To analyze the damage of corticospinal tract in ischemic stroke patients with diffusion tensor tractography (DTT).Methods Thirty-seven ischemic stroke patients who underwent routine MRI scanning and DTT within 3 days after their disease onset.Their bilateral corticospinal tracts were plotted using MRI software.The patients were divided into grade Ⅰ group (n=10),grade Ⅱ group (n=12),and grade Ⅲ group (n=15) according to the severity of their corticospinal tract damage.Their general clinical data and NIHSS score were recrded.The patients were followed up for 6 months,during which the recovery of their motor function was assessed according to the Fugl-Meyer score (FMS) and the risk factors for FMS were analyzed.Results The NIHSS score on admission was significantly higher in grade Ⅲ group than in grade Ⅰ group and grade Ⅱ group (P＜0.05).The recovery of motor function was significantly better and the NIHSS score was significant higher in grade Ⅰ group than in grade Ⅲ group.The FMS was significantly higher in grade Ⅰ,Ⅱ andⅢ groups after 6 months of treatment than on admission (P＜0.01).Multivariate linear regression analysis showed that corticospinal tract damage,white matter lesion and NIHSS score on admission were the independent risk factors for the recovery of motor function(P＜0.01).Conclusion DTT can assess the damage of corticospinal tract in ischemic stroke patients.The damage of corticospinal tract is an important risk factor for the recovery of motor function in ischemic stroke patients.

Background/Aims: Genetic polymorphisms of methylene tetrahydrofolate reductase (MTHFR) were associated with ischemic stroke risk. This study analyzed MTHFR polymorphisms at the 3'-untranslated region for association with risk and outcome of ischemic stroke in a Chinese Han population. Methods: 500 patients and 600 healthy volunteers were enrolled for MTHFR rs868014 genotyping identified bioinformatically. The binding of miR-1203 to MTHFR rs868014 was determined by luciferase assay, MTHFR expression was assessed using qRT-PCR, and plasma homocysteine levels were assayed by ELISA. Results: Cigarette smoking, alcohol consumption, diabetes, hypertension (all P <0.001), low levels of serum high-density lipoprotein-C (P = 0.01), and high levels of serum low-density lipoprotein-C (P = 0.005) were associated with an increased risk of developing ischemic stroke. BMI and total serum cholesterol concentration was not associated with ischemic stroke. MTHFR rs868014 TC and CC genotypes were significantly associated with increased risk of ischemic stroke compared with the TT genotype (OR: 1.52; 95% CI: 1.01-3.39 for TC genotype, while OR: 1.99; 95% CI: 1.29-3.88 for CC genotype). Furthermore, the MTHFR rs868014 SNP was associated with a poor short-term ischemic stroke outcome. qRT-PCR confirmed that MTHFR rs868014 TC or CC genotypes could facilitate miR-1203 binding leading to low MTHFR levels in cells. In addition, patients carrying the MTHFR rs868014 TC or CC genotypes were associated with accumulation of serum tHcy and a poor ischemic stroke outcome. Linkage disequilibrium analysis indicated that the newly identified SNP rs868014 was strongly linked with the MTHFR A1298C polymorphism. Conclusion: This study demonstrates that the MTHFR rs868014 SNP is associated with increased risk in developing ischemic stroke, miR-1203 binding, low MTHFR levels in cells, and poor shot term outcome of patients.

目的 观察丁螺环酮治疗小脑性共济失调的疗效.方法 小脑性共济失调患者205例,随机分为两组:对照组95例,给予常规治疗及综合康复训练;试验组110例,在对照组治疗的基础上加用丁螺环酮治疗3个月.采用世界神经病联合会国际合作共济失调量表(ICARS)评估并比较两组疗效.结果 治疗前,两组患者的ICARS症状评分差异均无统计学意义(P＞0.05).治疗3个月后,两组患者的姿势和步态、动态功能、言语障碍和眼球运动障碍四项症状评分均低于治疗前(P＜0.05),试验组均低于对照组(P＜0.05).治疗3个月后,试验组ICARS总分低于对照组[(21.3±11.9)分vs.(27.0±16.5)分](P＜0.05).试验组3个月治疗过程中未发现药物相关严重不良反应.结论 在常规治疗及综合康复训练的基础上,加用丁螺环酮治疗能显著提高小脑性共济失调患者的短期疗效.

目的 观察术后综合康复治疗对踝关节骨折患者康复进程及生活质量的影响.方法 将147例踝关节骨折病例随机分为观察组(n=76)和对照组(n=71).观察组术后给予综合康复治疗方案,对照组术后给予常规康复方案.随访至术后12个月,观察两组康复进程(采用踝关节主动伸、屈、旋前、旋后最大度数评价,术前及术后3,6,12个月各评价1次)及生活质量的差异.结果 两组踝关节伸、屈、旋前、旋后度数比较差异有统计学意义(P<0.05),两组踝关节伸、屈、旋前、旋后度数随着时间的延长表现出逐渐升高的趋势(P<0.05),观察组升高的幅度大于对照组(P<0.05);两组的躯体功能、心理功能、社会功能、物质生活状态评分比较差异有统计学意义(P<0.05),且评分随着时间的延长表现出逐渐升高的趋势(P<0.05),观察组升高的幅度大于对照组(P<0.05).结论 综合康复治疗可缩短踝关节骨折术后康复进程,也有助于提升生活质量.