ObjectiveTo study the quality of life of patients with hepatolenticular degeneration (HLD)and analyze the influencing factors.Methods287 patients with HLD and 51 health people were investigated by World Health Organization quality of life assessment instrument brief version (WHOQOL-BREF),Symptom Checklist 90 (SCL-90),Life Satisfaction Index A (LSIA) and variance analysis,t-test and multiple linear regression analysis were analyzed the influencing factors.Results①Scores of WHOQOL-BREF:physical domain(54.64 ± 17.11 ),psychological domain ( 52.09 ± 15.83 ) in patients with HLD were lower than those in the health people (67.30 ± 12.66,58.90 ± 12.75 ) with statistically significant difference (P ＜ 0.01 ) ; social domain ( 51.35± 17.18),the domain of environment(53.54 ± 16.67) in patients with HLD were lower than those in the health people (57.53 ± 14.99,58.42 ± 10.55 ) with statistically significant difference (P ＜ 0.05 ).②The quality of life of the patients with HLD was influenced by LSIA,total score of SCL-90,the attitude toward the doctors,economic status,the attitude toward the disease,residence with statistically significant difference (P ＜ 0.0l ).ConclusionThe quality of life in patients with HLD is lower than that in health people and much factors influence it,so it is necessary to take multi-facet interventions to improve their quality of life.

Objective To examine the brain metabolic changes in WD patients receiving copper chelation by us?ing 1H-MRS. Method Thirty-nine patients with WD was randomly divided into four groups: non-brain type group (18 cases), brain type prior-treatment group and short-term treatment group (21 cases), long-term treatment group (20 cases) from short-term treatment group, and 20 healthy volunteers served as a control group. 1H-MRS and MRI were performed on patients on 1.5/MR/MRS system to detect these above-mentioned items before and after treatment. Result The mean of NAA/Cr was significantly lower in the left putamen and head of the caudate nucleus than in the left basal ganglion in the 39 patients with WD. The mean of NAA/Cr and Cho/Cr in the left putamen and basal ganglion was significantly lower in non-brain type group than in control group(P<0.01). The mean of NAA/Cr Cho/Cr and NAA/Cho in the left putamen,head of the caudate nucleus and basal ganglion were significantly lower in brain type group than in control group(P<0.01 or P<0.05). The mean of NAA/Cr in the left putamen was much lower in brain type group than in non-brain type group (P<0.01). The mean of NAA/Cr, Cho/Cr and NAA/Cho of short-term treatment group in the left putamen, head of the caudate nucleus and basal ganglion was not significantly different between brain type group and short-term treatment group(P>0.05). The mean of NAA/Cr and NAA/Cho in the left putamen and basal ganglion was much higher in long-term treatment group than in brain type group(P<0.01 or P<0.05). The mean of Cho/Cr in the left head of caudate nucleus were much higher after treatment compared with prior-treatment group(P<0.05). The mean of NAA/Cr in the left putamen, head of the left caudate nucleus and basal ganglion in all groups was negatively correlated with course of the disease. Conclusion There are significant differences in brain metabolism among different type of WD. The long-term but not short-term copper chelation significantly improves brain metabolism. NAA/Cr may be used as a non-invasive indicator to examine the efficacy of treatment.

Objective To investigate the impulsivity and aggressiveness characteristics of patients with hepatolenticular degeneration (HLD) and its relationship with brain structure.Methods The Chinese version of the Barratt impulsiveness scale,11 version (BIS-1 1-C) and Buss-Perry aggression questionnaire (BPAQ) were assessed in 78 patients with hepatolenticular degeneration(HLD group) and 86 normal adults (health control group).HLD patients were examined by 3.0T magnetic resonance imaging (MRI).The differences in impulsivity and aggressiveness of the two groups were compared,and the relationship was analyzed between impulsivity,aggressiveness and different brain structures in patients with HLD.Results The total impulsive score,unplanned factor score,the total aggressive score and anger factor score of patients with cerebral HLD (61.74±9.82,26.08±5.06,82.71 ± 15.92,20.06± 5.74,respectively) were higher than those in patients with hepatic HLD (56.73±7.11,23.02±4.20,72.84± 11.15,16.64±5.01,respectively),and health control group(52.19±7.53,21.50± 3.93,64.64±9.83,14.27 ±4.38,respectively),and the differences were significant (F=3.193,4.646,11.830,8.270,all P＜0.05).Total impulsive score was positively correlated with aggressive score and physical aggression in HLD group(r=0.299,0.290,both P＜0.05).Unplanned score was positively correlated with aggressive total score (r=0.324) and physical aggression (r=0.320) in HLD group (P＜0.05).Frontal lobe injury was the influencing factor of total impulsive score(B=10.263,95％CI=0.467-19.946,P=0.008),attention score(B=2.837,95％CI=0.382-5.600,P=0.010) and unplanned factor score (B=3.977,95％ CI=0.848-8.502,P=0.046).Thalamus injury was the influencing factor of aggressive total score and its factor score.Caudate nucleus injury was the influencing factor of aggressive total score (B=10.030,95％ CI=3.351-18.039,P=0.017) and physical aggression score (B =4.432,95％ CI=1.193-7.729,P=0.016).Conclusion Patients with HLD have higher impulsive and aggressive tendencies,which are mainly manifested in unplanned impulsive and anger tendencies.Brain injury may be an important factor affecting impulsiveness and aggression in patients with HLD.Impulsiveness is related with frontal lobe injury and aggression to thalamus and caudate nucleus injury.Impulsiveness and aggressiveness in patients with HLD are not caused by damage to isolated brain areas,but are related to damage to multiple brain areas.

Objective:To investigate the characteristics of attention bias in Wilson disease(WD) patients with different levels of state-trait anxiety.Methods:The emotional Stroop paradigm and the state-trait anxiety inventory(STAI) were used to evaluate the anxiety level and the characteristics of attention bias in 49 inpatients with WD.SPSS 25.0 software was used for statistical analysis.Independent sample t-test was used for comparison between the two groups.Multiple linear regression analysis was used to evaluated the influencing factors of attentional bias response time. Results:(1) In WD patients, the response times measured under the positive, negative and neutral words in the high trait anxiety group((867.0±172.1)ms, (877.0±167.7)ms, (898.4±169.8)ms, respectively) were significantly higher than the low trait anxiety group((771.9±128.9)ms, (770.9±110.4)ms, (778.4±120.1)ms, respectively) and the differences were statistically significant( t=-2.183, -2.605, -2.847, all P<0.05). The response times under the positive, negative and neutral word measured in the high state anxiety group((866.9±171.9)ms, (867.8±173.8)ms, (889.8±173.5)ms, respectively) were higher than those of the low state anxiety group((771.9±129.2)ms, (780.4±109.3)ms, (787.3±123.0)ms, respectively) and the differences were statistically significant( t=-2.177, -2.116, -2.378, all P<0.05). (2) Multiple linear regression analysis showed that the total score of trait anxiety ( B=4.584, 4.671, 5.376, P=0.020, 0.015, 0.008) and age ( B=9.314, 7.864, 7.505, P=0.002, 0.008, 0.014) were the influencing factors of response times measured under the positive, negative and neutral emotion words. Conclusion:Anxiety will lead patients with WD to show more negative attention bias, and trait anxiety can significantly predict the characteristics of attention bias.

Freezing of gait is a common gait disorder in Parkinson disease (PD), which is highly disabling, situational and therapeutically challenging. At present, there is no clear and effective intervention method. In recent ten years, exercise training based on cognitive-motor dual tasks has been more and more used in the intervention treatment of freezing of gait of PD patients, and achieved certain clinical results. The muscle-brain crosstalk effect of exercise training promoting muscle secretory factors is crucial for freezing of gait rehabilitation of PD. There are differences in the effects of cognitive-motor dual tasks of different types and loads on gait, but the specific training types and loads and mechanism of action still need to be further elucidated. This paper focuses on the research progress of muscle-brain crosstalk mechanism in cognitive-motor interference effect of freezing of gait in PD patients, aiming to providing a new theoretical perspective for clinical cognitive-motor training intervention of freezing of gait in PD patients.

Objective:To explore the characteristics of cognitive emotion regulation in patients with hepatolenticular degeneration, and the relationship with brain lesions.Methods:The Chinese version of cognitive emotion regulation (CERQ-C) was used to investigate 78 patients with hepatolenticular degeneration(WD group) and 84 healthy adults, and all patients were examined with brain 3.0 T magnetic resonance.The characteristics of cognitive and emotional regulation in WD group were analyzed when they encounterd negative life events, and the differences between WD group and healthy people.The relationship was further analyzed between different brain structure damage and cognitive emotion regulation combined with brain MRI.Results:(1)The scores of self censure, contemplation and catastrophes in WD group((11.41±2.46), (11.27±3.09), (9.53±2.85), respectively) were significantly higher than those in healthy control group(respectively(9.57±2.81), (9.79±2.63), (8.05±2.42))( t=4.417, 3.409, 3.563, P<0.01). The scores of refocus planning and positive reevaluation ((13.26±3.41), (13.49±3.14)) in MD group were significantly lower than those of the healthy control group ((14.88±2.57), (14.42±2.41))( t=-3.404, -2.103, P<0.05). (2)Multiple linear regression analysis showed that frontal lobe injury was the influencing factor of the score of positive re-evaluation ( B=-2.142, P=0.035), thalamic injury ( B=2.058, P=0.037) and putamen injury ( B=-2.348, P=0.011) were the influencing factors of the score of contemplation. Conclusion:WD patients are more likely to choose self censure, contemplation and catastrophes than healthy people when they encounter negative life events.Different brain regions have different effects on the choice of cognitive emotion regulation in WD patients.

Objective To explore cognitive impairment and related factors in patients with Wilson disease (WD) and to screen the risk factors of cognitive impairment in order to provide evidence for clinical intervention. Methods The Chinese Version Addenbrooke＇s Cognitive Examination-III (ACE-III-C) was used to assess the cognitive function. The WD patients with cognitive impairment were analyzed the difference between those with non-cognitive disorders in the Young scale, Baethel scale and biochemical indicators. Risk factors for cognitive impairment in WD patients were analyzed by multiple linear regression. Results Cognitive impairment occurred in 43 (59.7%) of 72 patients with WD. ACE-III-C total score, attention, memory, language fluency, visual spatial factor scores, Young scores, Barthel scores and serum copper levels were significantly different between patients with cognitive impairment and patients with non-cognitive impairment (P＜0.01). Linear regression analysis showed that serum copper levels were the most important risk factors for ACE-III-C total score and cognitive subfields (P＜0.01). Serum zinc levels as a secondary risk factor of language fluency and visual space (P＜0.05). Age-related participation affected language fluency (P＜0.05). Conclusions Serum copper and zinc levels may be the main risk factors of cognitive impairment. Modulation of serum copper and zinc levels may be the key for intervention to treat cognitive impairment in WD patients.

Aceruloplasminemia(ACP)is a rare,adult-onset autosomal recessive disorder characterized by ceruloplasmin(CP)deficiency and iron metabolism disorders,with typical clinical manifestations of the triad of"neurological symptoms,diabetes,and retinopathy".Cranial MRI shows widely symmetrical T2-weighted imaging(T2WI)hypointensity in the basal ganglia,thalamus,dentate nucleus,and cortex.The diagnosis of ACP depends on genetic testing.Iron chelators were the main treatment,and some patients had unsatisfactory improvement in neurological symptoms.Clinicians should improve the recognition of ACP.Early diagnosis and treatment are helpful for the recovery of the disease.

Objective To explore the influence of impulsivity on digital addiction tendencies in patients with Wilson disease(WD)and its related factors.Methods A total of 66 patients with WD were included in the study which were divided into neurological WD group(42 cases)and hepatic WD group(24 cases)according to clinical manifestations.Sixty-six WD patients were included as the study subjects,including 24 cases of hepatic WD and 42 cases of neurological WD.The Chinese version of the Barratt impulsiveness scale(BIS-11-C)was used to assess patients'impulsiveness.Mobile phone addiction index(MPAI)evaluates the degree of dependence on mobile phone use.Cranial MRI was used to examine the location and cumulative frequency of the diseased brain region.Results Among the 66 WD patients,45 cases(68.2% )had the tendency of digital addiction,including 35 cases(53.0% )in the neurological WD group and 10 cases(15.2% )in the hepatic WD group.There was a statistically significant difference in the proportion of the two types of WD patients(P=0.001).The scores of BIS-11-C and MPAI scales in neurological WD group were higher than those in hepatic WD group(P<0.05).The out-of-control score in the MPAI scale is positively correlated with the attention impulsivity score(r=0.499,P=0.001),motor impulsivity score(r=0.553,P=0.001),unplanned impulsivity score(r=0.535,P=0.001),and impulse control score(r=0.653,P=0.001)in the BIS-11-C scale.Linear regression analysis showed a correlation between attention impulsivity score and frontal lobe lesions(B=-1.634,P=0.018).There was a correlation between loss of control score and frontal lobe lesions(B=-3.609,P=0.023).The withdrawal score was associated with the thalamus lesions(B=-5.047,P=0.007)and frontal lobe lesions(B=-2.204,P=0.024).Avoidance score was associated with parietal lobe lesions(B=-1.867,P=0.032).The low efficacy score was associated with the putamen lesions(B=-1.789,P=0.016)and frontal lobe lesions(B=-1.592,P=0.044).Conclusion Neurological WD patients have higher tendency of digital addiction than hepatic WD patients and the tendency of digital addiction is related to impulsivity.The digital addiction tendency of WD patients may be related to impulse control disorders caused by lesions in multiple brain regions such as the putamen,thalamus,and frontal lobe.

Objective:To evaluate the efficacy and safety of hypomethylating agents (HMA) in patients with myelodysplastic syndromes (MDS) .Methods:A total of 409 MDS patients from 45 hospitals in Zhejiang province who received at least four consecutive cycles of HMA monotherapy as initial therapy were enrolled to evaluate the efficacy and safety of HMA. Mann-Whitney U or Chi-square tests were used to compare the differences in the clinical data. Logistic regression and Cox regression were used to analyze the factors affecting efficacy and survival. Kaplan-Meier was used for survival analysis. Results:Patients received HMA treatment for a median of 6 cycles (range, 4-25 cycles) . The complete remission (CR) rate was 33.98% and the overall response rate (ORR) was 77.02%. Multivariate analysis revealed that complex karyotype ( P=0.02, OR=0.39, 95% CI 0.18-0.84) was an independent favorable factor for CR rate. TP53 mutation ( P=0.02, OR=0.22, 95% CI 0.06-0.77) was a predictive factor for a higher ORR. The median OS for the HMA-treated patients was 25.67 (95% CI 21.14-30.19) months. HMA response ( P=0.036, HR=0.47, 95% CI 0.23-0.95) was an independent favorable prognostic factor, whereas complex karyotype ( P=0.024, HR=2.14, 95% CI 1.10-4.15) , leukemia transformation ( P<0.001, HR=2.839, 95% CI 1.64-4.92) , and TP53 mutation ( P=0.012, HR=2.19, 95% CI 1.19-4.07) were independent adverse prognostic factors. There was no significant difference in efficacy and survival between the reduced and standard doses of HMA. The CR rate and ORR of MDS patients treated with decitabine and azacitidine were not significantly different. The median OS of patients treated with decitabine was longer compared with that of patients treated with azacitidine (29.53 months vs 20.17 months, P=0.007) . The incidence of bone marrow suppression and pneumonia in the decitabine group was higher compared with that in the azacitidine group. Conclusion:Continuous and regular use of appropriate doses of hypomethylating agents may benefit MDS patients to the greatest extent if it is tolerated.