1.COVID-19 related autoimmune myopathy: 5 cases report
Mengting YANG ; Yawen ZHAO ; Yikang WANG ; Jingchu YUAN ; Jianwen DENG ; Jing LIU ; Yiming ZHENG ; Wei ZHANG ; Zhaoxia WANG ; Yun YUAN
Chinese Journal of Neurology 2024;57(1):40-46
Objective:To analyze the clinical characteristics, imaging, myopathology and outcomes of patients with COVID-19 related autoimmune myopathy.Methods:The clinical features, serum creatine kinase (CK), myositis antibodies, muscle magnetic resonance imaging, myopathology and therapy of 5 patients with COVID-19 related autoimmune myopathy diagnosed in Peking University First Hospital from December 2022 to April 2023 were collected. The effects of the therapy after a short term follow up were analyzed.Results:Among the 5 patients, there were 3 males and 2 females, with onset age of 42-86 years. All patients presented with proximal muscle weakness in the recovery term of COVID-19. Myalgia was noted in 3 cases, dysphagia in 1, skin damage in 2, interstitial lung disease in 1. The serum CK of the 5 patients was 1 663-16 000 IU/L, 1 patient had anti-3-hydroxy-3-methylglutaryl-CoA reductase autoantibodies and 1 patient had anti-signal recognition particle autoantibodies. The electromyography showed myogenic lesions in all patients. Muscle magnetic resonance imaging showed diffuse muscle edema in all patients, myofascial edema in 3 and subcutaneous-tissue edema in 3. The muscle biopsies in 4 patients revealed necrotic myopathy,with high P62 expression in muscle fibers. The electromicroscopy of 2 patients revealed vacuolated mitochondria and intranuclear tubulofilamentous inclusions in muscle fibers. Four patients were treated with glucocorticoids, of whom 2 patients combined with intravenous immunoglobulin, tacrolimus or cyclophosphamide. One case had close monitoring without drug therapy. They showed significant improvement, but the CK was still abnormal in 4 patients.Conclusions:COVID-19 leads to immune mediated myopathy. The manifestation of patients is characterized by proximal predominant weakness and high creatine kinase level. Muscle magnetic resonance imaging shows diffuse muscle edema. The muscle biopsies reveal necrotic myopathy. The effectiveness of immunosuppression needs to be further studied.
2.Analysis of oligoclonal bands detection results of 3 217 patients with neurological disorders
Zhenyu NIU ; Haiqiang JIN ; Hongjun HAO ; Yiming ZHENG ; Jing GUO ; Yan YAO ; Feng GAO ; Zhaoxia WANG
Chinese Journal of Laboratory Medicine 2024;47(1):57-64
Objective:To study positive rates and typing of oligoclonal bands (OCB) in patients with neurological disorders, and to reveal the clinical significance and applicational value of OCB test.Methods:A retrospective analysis was performed on the detection results of 3 217 patients with neurological disorders who undertook both serum and cerebrospinal fluid OCBs in the First Hospital of Peking University from January 2012 to August 2022. According to the final diagnosis, the patients were divided into 13 groups including multiple sclerosis (479 cases), neuromyelitis optica spectrum disorders (935 cases), autoimmune encephalitis (192 cases), viral encephalitis (94 cases), nervous system complication after HSCT (232 cases), Guillain-Barré syndrome (644 cases), chronic inflammatory demyelinating polyneuropathy (157 cases), etc. Cerebrospinal fluid and serum OCBs were detected using isoelectric focusing electrophoresis combining immunofixation, then classified into Ⅰ-Ⅴ types according to the morphology. Consequently, positive rates and types were analyzed for each group. χ2 test was used for comparison between groups. Results:The positive rates of cerebrospinal fluid OCB in multiple sclerosis, nervous system complication after hematopoietic stem cell transplantation (HSCT), autoimmune encephalitis, viral encephalitis, neuromyelitis optica spectrum disorders, Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy were respectively 66.8% (320/479), 48.7% (113/232), 46.4%(89/192), 19.1% (18/94), 17.6% (165/935), 9.9% (64/644), 5.1% (8/157). For patients with multiple sclerosis, neuromyelitis optica spectrum disorders, viral encephalitis, and autoimmune encephalitis, Type Ⅱ bands took the majority of cerebrospinal fluid OCB-positive cases with the rates of 94.1% (301/320), 78.7% (70/89), 77.8% (14/18), and 77.6% (128/165) respectively, indicating intrathecal IgG synthesis; for patients with nervous system complication after HSCT, Guillain-Barré syndrome and chronic inflammatory demyelinating polyneuropathy, type Ⅳ bands took the majority of cerebrospinal fluid OCB-positive cases with the rates of 94.7% (107/113), 82.8% (53/64) and 100% (8/8), indicating no obvious intrathecal IgG synthesis. The positive rates of cerebrospinal fluid oligoclonal bands were significantly different among all groups (χ 2=1 268.31, P<0.001). Conclusion:The positive rates of cerebrospinal fluid oligoclonal bands are different among different neurological disorders, in which the positive rate of cerebrospinal fluid OCB is higher with type Ⅱ bands as the majority type in multiple sclerosis, which indicates that the detection and typing of cerebrospinal fluid OCB are helpful for the diagnosis of various neurological diseases, especially for multiple sclerosis.
3.Analysis of Residual Shunt and Therapeutic Effect in Migraine Patients After One Year of Patent Foramen Ovale Closure
Chunying JI ; Zhaoxu HUANG ; Jing LI ; Qingna MENG ; Liming ZHOU ; Zhaoxia PU
Chinese Circulation Journal 2024;39(9):883-888
Objectives:To observe the incidence of residual shunt post patent foramen ovale(PFO)closure and the effect of PFO closure in these migraine patients at one year after PFO. Methods:This retrospective study included patients who underwent PFO closure for migraine in the Second Affiliated Hospital Zhejiang University School of Medicine from January 2019 to June 2022,patients were divided into the grade 0 shunt group(n=67),the grade Ⅰ shunt group(n=10),the grade Ⅱ shunt group(n=13)and the grade Ⅲ shunt group(n=16)according to the results of contrast transthoracic echocardiography(cTTE)at 1 year after PFO closure.The incidence of postoperative migraine attacks among different groups of patients were compared.The risk factors of residual shunt after PFO closure were explored. Results:The mean age of enrolled 106 patients with migraine was(35.80±11.70)years,of which 83 patients(78.30%)were female.One year after PFO closure,the migraine attack and rating scale were significantly decreased compared to baseline in the grade 0 shunt group,in the grade Ⅰ shunt group and in the grade Ⅱ shunt group(all P<0.05),but not in the grade Ⅲ shunt group(P>0.05).The rate of significant and complete migraine was significantly higher in the grade 0 shunt group(58.21%),in the gradeⅠ shunt group(60.00%),in the grade Ⅱ shunt group(69.23%)as compared to the grade Ⅲ shunt group(18.75%,P=0.02)at one year after PFO.The rate of grade 0 shunt after PFO closure in patients with the microvesicles appearing in≥6 cardiac cycles in resting state before operation was significantly lower than in patients with the microvesicles appearing within 6 cardiac cycles and no microvesicles in resting state(24.00%vs.83.87%vs.70.00%,P=0.04).Logistic multivariate regression analysis showed that patients with microvesicles appearing beyond 6 cardiac cycles in resting state were more likely to have residual shunts in postoperative cTTE compared to the patients with negative cTTE and microvesicles appearing within 6 cardiac cycles in the cTTE in resting state before operation(OR=0.06,95%CI:0.02-0.23,P<0.01;OR=0.014,95%CI:0.05-0.41,P<0.01). Conclusions:Migraine patients who underwent PFO closure and with grade 0 to grade Ⅱ residual shunt at one year after PFO are most likely to have significant remission of migraine,while the incidence of migraine remission is low in patients with grade Ⅲresidual shunt.The incidence of residual shunt after PFO closure is higher in patients with the microvesicles appearing in 6 cardiac cycles in resting state in the cTTE before operation than in patients with the microvesicles appearing within 6 cardiac cycles and no microvesicles.
4.Abnormal Ocular Movement in the Early Stage of Multiple-System Atrophy With Predominant Parkinsonism Distinct From Parkinson’s Disease
Hong ZHOU ; Luhua WEI ; Yanyan JIANG ; Xia WANG ; Yunchuang SUN ; Fan LI ; Jing CHEN ; Wei SUN ; Lin ZHANG ; Guiping ZHAO ; Zhaoxia WANG
Journal of Clinical Neurology 2024;20(1):37-45
Background:
and Purpose The eye-movement examination can be applied as a noninvasive method to identify multiple-system atrophy (MSA). Few studies have investigated eye movements during the early stage of MSA with predominant parkinsonism (MSA-P). We aimed to determine the characteristic oculomotor changes in the early stage of MSA-P.
Methods:
We retrospectively selected 17 patients with MSA-P and 40 with Parkinson’s disease (PD) with disease durations of less than 2 years, and 40 age-matched healthy controls (HCs).Oculomotor performance in the horizontal direction was measured in detail using videonystagmography.
Results:
We found that the proportions of patients with MSA-P and PD exhibiting abnormal eye movements were 82.4% and 77.5%, respectively, which were significantly higher than that in the HCs (47.5%, p<0.05). Compared with HCs, patients with MSA-P presented significantly higher abnormal proportions of fixation and gaze-holding (17.6% vs. 0%), without-fixation (47.1% vs. 0%), prolonged latency in reflexive saccades (29.4% vs. 5.0%), memory-guided saccades (93.3% vs. 10.0%), and catch-up saccades in smooth-pursuit movement (SPM, 41.2% vs. 0) (all p<0.05). Compared with those with PD, patients with MSA-P presented a significantly higher proportion of catch-up saccades in SPM (41.2% vs. 2.5%, p<0.001).
Conclusions
MSA-P presented the characteristic of catch-up saccades in SPM in the early stage, which may provide some value in differentiating MSA-P from PD.
5.Survey on satisfaction and employment intention of general practice residents in Shanxi province
Jing LI ; Zhaoxia DUAN ; Yanan AN ; Shasha HOU ; Hao LIU
Chinese Journal of General Practitioners 2023;22(8):833-838
Objective:To survey the satisfaction and employment intention of general practice residents (GPRs) in Shanxi Province.Methods:A cross-sectional questionnaire survey was conducted in May 2021 among GPRs in Shanxi Province through the residency training information management platform. The questionnaire included general demographic information, clinical competency and independent practice ability, the status of the training base, their satisfaction with the training, career prospects and employment intention. The survey results were analyzed.Results:A total of 452 questionnaires were distributed, and 434 valid ones were recovered with an effective recovery rate of 96.02%. The age of respondents was (27.4±4.6) years, there were 155 GPRs (35.71%) enrolled in 2018, 131 GPRs (30.18%) in 2019, and 148 GPRs (34.10%) in 2020. A total of 286 GPRs (65.9%) thought that they were able to independently complete some procedures such as abdominal puncture, lumbar puncture, chest puncture, and bone puncture, and the proportion of GPRs who were able to complete the above procedures increased with the training time (49.3%(73/148), 70.2%(92/131), and 78.1%(121/155) in 2020, 2019, and 2018 batches, respectively, χ2=29.39, P<0.001); 372 respondents (85.7%) thought that they were able to independently receive patients with common diseases and make preliminary diagnosis and treatment, while there was no significant difference in the proportion of GPRs enrolled in 2020, 2019, and 2018 ( χ2=3.35, P=0.188); 425 GPRs (97.9%) expressed that the base arranged rotation according to the training syllabus; 390 GPRs (89.9%) thought that the proportion of knowledge and skill assessment in the final examination was appropriate. The survey showed that 70 GPRs (16.1%) thought that the number of cases and types of diseases in the teaching base fully met the requirements of the training program, 144 GPRs (33.2%) thought that mostly met the requirements, 197 GPRs (45.4%) thought that basically met the requirements, 22 GPRs (5.1%) thought that most of them did not meet the requirements, and 1 GPR (0.2%) thought that completely did not meet the requirements. Most of the respondents (368 (84.8%)) reported that they received guidance from clinical instructors for medical record writing; 174 (40.1%) and 172 (39.6%) GPRs were very satisfied or satisfied with general practice teachers and teaching base instructors; 207 GPRs (47.7%) were satisfied with accommodation (or subsidies), while 38 GPRs (8.3%) were very dissatisfied; 203 GPRs (46.8%) were satisfied with basic salary and benefit, while 35 GPRs (8.1%) were very dissatisfied. For general practice as the career, 88 GPRs (20.3%) liked it very much, 255 GPRs (58.8%) liked it, 67 GPRs (15.4%) did not like it very much, and 24 GPRs (5.5%) disliked it. For the prospects of general practice, 108 GPRs (24.9%) considered it very optimistic, 219 GPRs (50.5%) considered it relatively optimistic, 92 GPRs (21.2%) considered it not very optimistic, and 15 GPRs (3.5%) considered it very pessimistic. Regarding employment intentions, 174 GPRs (40.1%) intended to choose municipal hospitals, 170 GPRs (39.2%) to choose county level hospitals, only 9 GPRs (2.1%) to choose village clinics. Conclusions:The survey indicates that for GPRs the most dissatisfied aspects are the salary and benefit, as well as the living conditions during their training; after completing the contract, most GPRs hope to work in hospitals at county and above levels.
6.Construction of an evaluation index system for the construction of key medical disciplines in medical institutions in Shanxi Province
Yanan AN ; Shasha HOU ; Jing LI ; Hao LIU ; Zhaoxia DUAN
Chinese Journal of Medical Science Research Management 2023;36(6):455-460
Objective:Exploring the establishment of an objective and scientific evaluation index system for the construction of key medical disciplines in medical institutions in Shanxi Province.Methods:Literature review, Delphi method, and analytic hierarchy process were jointly adopted to screen the indicators and construct the evaluation index system of key medical disciplines in medical institutions in Shanxi province.Results:Two rounds of expert consultation were carried out, and the response rate was higher than 90%, and the expert authority coefficient was ≥0.75. Four primary indicators, 10 secondary indicators, and 41 tertiary indicators were established and given weights at all levels. The four primary indicators were medical operation 25.46%, scientific research management 36.01%, medical education 27.36%, and basic conditions 11.17%. The medical operation showed no significant difference from the original indicators, but its specific content was closer to the core indicator system of public hospitals′ performance evaluation reflecting social service capacity. The proportion of scientific research management increased by 12.5% and medical education increased by 17.39%. The results of the comprehensive quantitative evaluation of medical education and basic condition were P<0.05, respectively. The average score of discipline construction increased from 78.8, with excellent disciplines accounting for 56.66%, good accounting for 23.3%, qualified accounting for 6%, and unqualified accounting for 13.3%, to an overall average of 85.89, of which 76.7% were excellent, subjects accounting for 16.7% were good, 3% were qualified, and 3% were unqualified. Conclusions:The evaluation index system provided a quantitative tool for the evaluation of the construction of key medical disciplines in medical institutions in Shanxi Province. The expert authority and consistency were high and the index system was scientific. The weight coefficient of ″scientific research management″ in the index system was the highest, followed by medical education, in line with the evaluation purpose. The application of the system clarified the goal of current discipline construction, motivated the construction of scientific research management, promoted the transformation of achievements to a certain extent, and improved social service capacity.
7.Effects of high-energy shock and vibration on cortex and peripheral blood immune cells in goats
Yingguo ZHU ; Dongdong ZHANG ; Liangchao ZHANG ; Guanhua LI ; Ling GUO ; Zhaoxia DUAN ; Jing CHEN ; Jianmin WANG ; Guangming YANG
Chinese Journal of Trauma 2023;39(11):1029-1036
Objective:To investigate the effects of high-energy shock and vibration on cortex injury and peripheral blood immune cells in goats.Methods:Seventeen Boer goats without gender preference were selected. By using random number tables, the goats were divided into normal control group ( n=5) and shock and vibration injury group ( n=12). The goats in the normal control group were anatomized routinely and their brain was collected after being sacrificed without any other treatment. The goats in the high-energy shock and vibration model group were placed on a loading table (part of the BY10-100 instant shock and vibration simulation platform) in a restrained state, and made into a high-energy shock and vibration injury model induced by a vertical impact waveform generator. The intravenous blood samples were taken from the goats in the shock and vibration injury group before and at 0, 3, 6 and 24 hours after injury.Then, the goats were sacrificed and the following procedures were the same as the normal control group. At 24 hours after injury, the brain injury and the histopathological changes of the cerebral cortex in the normal control group and shock and vibration injury group were observed by gross pathological and anatomical examination and HE staining. The mRNA expression of zonula occludens 1 (ZO-1), tight junction protein 5 (Claudin-5), glial fibrillary acidic protein (GFAP), ionized calcium binding adaptor molecule 1 (IBA-1), interleukin (IL)-1β, IL-6 and cluster of differentiation antigen 177 (CD177) of the cerebral cortex in the normal control group and shock and vibration injury group were measured through fluorogenic quantitative polymerase chain reaction. The expression of ZO-1 and Claudin-5 proteins of the cerebral cortex in the normal control group and shock and vibration injury group were detected by Western blotting. Hematology analyzer and coagulation analyzer were used to detect white blood cell count, neutrocyte, lymphocyte, monocyte, prothrombin time 1 (PT-1), prothrombin time international normalized ratio (PT-INR), activated partial thromboplastin time (APTT), thrombin time (TT), prothrombin activity (PTA) and fibrinogen (FIB) levels in goats of the shock and vibration injury group before and at 0, 3, 6 and 24 hours after injury, respectively. Results:At 24 hours after injury, no visible contusion or necrosis was found in goat brain tissue in the shock and vibration injury group; the cerebral micro-vessels presented with a local dilation, hyperemia, edema, aggregation of inflammatory cells, disruption of vessel walls and leakage of red blood cells. These changes were not observed in the normal control group. In the shock and vibration injury group, ZO-1 and Claudin-5 mRNA expressions in the cerebral cortex were 0.25±0.10 and 0.09(0.04, 0.44) respectively, which were significantly lower than those of the normal control group [1.00±0.15 and 0.99(0.80, 1.20)]; GFAP, IBA-1, IL-1β, IL-6 and CD177 mRNA expression levels were 4.40(3.88, 6.75), 2.60±1.07, 3.04±0.51, 2.71±0.45 and 2.93±0.62 respectively, which were significantly higher than those of the normal control group [1.00(0.78, 1.22), 1.00±0.37, 1.00±0.27, 1.00±0.57 and 1.00±0.35]; ZO-1 and Claudin-5 protein expression levels were 0.41±0.06 and 0.42±0.11 respectively, which were significantly lower than those of the normal control group (1.08±0.12 and 0.91±0.23) (all P<0.01). In the shock and vibration injury group, the levels of white blood count, neutrocyte, and lymphocyte in peripheral blood were (13.7±3.3)×10 9/L, (35.3±14.8)% and (57.2±15.1)% respectively before injury, (19.4±3.1)×10 9/L, (60.5±12.5)% and (33.6±14.2)% respectively at 3 hours after injury, and (20.6±3.6)×10 9/L, (63.6±13.0)% and (30.9±15.0)% respectively at 6 hours after injury. By contrast, the levels of white blood count and neutrocyte were significantly increased but the level of lymphocyte was significantly decreased at 3 and 6 hours after injury ( P<0.05 or 0.01); the levels of the above indicators showed no significant changes at 0 and 24 hours after injury (all P>0.05); the level of monocyte did not change significantly at all time points before and after injury (all P>0.05). The levels of PT-1, PT-INR, APTT, TT, PTA and FIB in the shock and vibration injury group did not change significantly at each time point before and after injury (all P>0.05). Conclusion:Cerebral cortex microvascular injury and disruption of blood-brain barrier can be initiated in the early stage of high-energy shock and vibration injury in goats, accompanied by the presence of central and peripheral inflammatory response.
8.The ATP/P2X7 axis⁃mediated K + efflux promotes NLRP3 inflammasome activation in NDV⁃infected ECA109 cells
Xu Cao ; Caixia Wu ; Jinping Lan ; Jing Wang ; Zhaoxia Jia ; Hao Liu ; Kaiyang Liu
Acta Universitatis Medicinalis Anhui 2023;58(1):42-47
Objective :
To explore whether the NLRP3 inflammasome is activated after Newcastle disease virus (NDV) exposure to esophageal cancer ECA109 cells , whether its activation is related to K + efflux , and the effect of ATP/P2X7 axis on the activation of NLRP3 inflammasome.
Methods:
The expression of NLRP3 and IL⁃1β was detected by Western blot; the content of IL⁃1β in the supernatant was detected by ELISA ; the formation of ASC spots was detected by fluorescence immunoassay; the change of intracellular K + concentration was detected by fluorescent probe technology; Interventions with ATPase , ATP and P2X7 receptor inhibitors were used to investigate their role in NLRP3 inflammasome activation.
Results:
Compared with the control group , the expression of NLRP3 , IL⁃1β and ASC protein in cells was up⁃regulated after NDV F3 infection ; the intracellular potassium concen tration decreased with the prolongation of infection time (P < 0. 05) . After the intervention of P2X7 receptor inhibitor, the efflux of intracellular K + was blocked. With the increase of inhibitor concentration , the efflux of K + was maximally inhibited at 10 μmol/L (P < 0. 05) . The results of ATPase and ATP intervention showed that ATPase inhibited K + efflux , while ATP promoted K + efflux. Western blot results showed that compared with the control group , P2X7 receptor was inhibited , and the expressions of NLRP3 and IL⁃1β were down⁃regulated ; after ATPase intervened cells , the expressions of NLRP3 and IL⁃1β decreased ; After ATP intervention in cells , the protein expressions of NLRP3 and IL⁃1β were up⁃regulated (P < 0. 05) .
Conclusion
NDV F3 infection of ECA109 cells can activate the NLRP3 inflammasome , the mechanism may be related to the ATP/P2X7 axis.
9.Effects of attentional bias training on attention bias, psychological craving and relapse rate in male patients with alcohol dependence
Jing GAO ; Zhuang CAI ; Zhiwen WANG ; Kebing YANG ; Yajuan NIU ; Zhaoxia ZHAO ; Li ZHANG
Chinese Journal of Behavioral Medicine and Brain Science 2022;31(2):128-135
Objective:To explore the effect of attentional bias training on the attentional bias, psychological craving and relapse rate of alcohol dependent patients during rehabilitation.Methods:A randomized controlled trial was used to select 90 alcohol-dependent patients and randomly divide them into an intervention group and a control group. The alcohol cue pictures and neutral pictures were imported into E-Prime software at a ratio of 1∶1.The patients in the two groups were trained for eight times with attentional bias and without attentional bias by point delection paradigm. After each training, the software automatically records the response time and correct rate of the cue pictures and neutral pictures, and before intervention(T0), after 4 interventions(T4), and after 8 interventions(T8), the alcohol craving score was assessed by visual analogue scale and the relapse situation was followed up 1 month after the intervention. SPSS 24.0 software was used for statistical analysis.Repeat measure ANOVA, χ2 test and t-test were used to compare the response time, accuracy and psychological craving of the two groups. Results:Repeated measurement analysis of variance showed that there were interaction between group and time in cue-map response time, line chart accuracy and psychological craving score of the two groups ( F=5.218, 6.939, 147.14, all P<0.01). Simple effect analysis showed that there was no significant difference in cue pictures response time, cue pictures accuracy and psychological craving score between the intervention group and the control group at T0(all P>0.05), but there was significant difference at T4 and T8 (all P<0.05), and there was significant difference in neutral pictures reaction only at T8 ( P<0.05). The comparison between two groups showed that the intervention group showed a downward trend in cue pictures response, T4 and T8 were lower than T0, with statistical difference (both P<0.001), while there was no difference in the control group. In the intervention group, the correct rate of cue pictures increased, T4 and T8 were higher than T0, and there were statistical differences (both P<0.001), while there was no difference in the control group( P>0.05). The psychological craving scores of both the intervention group and the control group showed a downward trend, T4 and T8 were lower than T0, there were statistical differences (both P<0.001), but the difference between T4 and T8 in the control group remained unchanged. One month after the end of the intervention, the difference in the rate of relapse between the intervention group and the control group was marginal (11.10%, 26.70%, P=0.059). The total number of days of abstinence in the intervention group was longer than that in the control group ((28.33±4.99)d, (26.47±6.66)d, P=0.010). Conclusion:Attentional bias training can improve the mental craving and attentional bias of alcohol-dependent patients during the rehabilitation period, and the relapse rate decreased one month after the intervention.
10.Characteristics of neuralgia in patients with Fabry disease in China
Yuanfeng MIAO ; Yawen ZHAO ; Jing LIU ; Fan LI ; Zhaoxia WANG ; Yun YUAN ; Wei ZHANG
Chinese Journal of Neurology 2022;55(1):15-20
Objective:To summarize the characteristics of neuralgia in Fabry disease and explore the effects of genders and alpha-galactosidase A (GLA) gene mutation types on neuralgia.Methods:Questionnaires and Brief Pain Inventory evaluations were conducted on the recruited patients diagnosed as Fabry disease in Department of Neurology, Peking University First Hospital from January 2001 to April 2020. The characteristics of the neuralgia were summarized, and the portrait of neuralgia between male and female patients, and the patient groups carrying truncated mutations and non-truncated mutations of GLA gene was compared.Results:A total of 93 patients with Fabry disease were enrolled. The incidence of neuralgia was 91.4% (85/93),and the average onset age of pain was 9 years. The average remission age was 20 years with the remission incidence of 22.8% (18/79). Pain attack on extremities [96.5%(82/85)] was the most common form. The neuralgia relieving rate of male patients [17.5%(11/63)] was lower than that of females (7/16, χ2=5.01, P=0.025).Brief Pain Inventory scores showed that the degree of most severe pain attack within 24 hours of male patients (4.16±3.20) was higher than that of females (2.07±2.02, t=3.03, P=0.004),and the impact of pain on daily life [male 4 (7) vs female 0 (4), Z=-2.33, P=0.020], walking ability [male 5 (8) vs female 0 (2), Z=-2.87, P=0.004], daily work [male 5 (8) vs female 0 (2), Z=-3.10, P=0.002], relationship [male 2 (6) vs female 0 (3), Z=-2.67, P=0.008] and interests [male 4 (8) vs female 0 (3), Z=-2.81, P=0.005] of male patients was also higher than female patients. The truncated mutation group [1 (2)] only showed higher score on the current pain level than the non-truncated mutation group [0(0), Z=-2.89, P=0.003]. Conclusions:The neuralgia in Chinese patients with Fabry disease showed high incidence and early onset. Male patients presented more severe pain than female which led to a greater impact on life, while the type of GLA gene mutation had less impact on neuralgia.


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