Objective:To investigate the clinical manifestations, gene mutation characteristics, imaging and video electroencephalogram (VEEG) characteristics of patients with dentatorubral-pallidoluysian atrophy (DRPLA).Methods:The clinical data of 9 patients with genetically diagnosed DRPLA in the Neurology Center, Beijing Tiantan Hospital, Capital Medical University from January 2018 to January 2023 were collected, and the clinical data of DRPLA patients reported in China were retrieved and summarized.Results:A total of 45 cases were included. The clinical characteristics were summarized as follows: (1) The male to female ratio of 45 patients was 1.00∶1.25, and the age of onset was (28.11±14.58) years. (2) The main clinical symptoms of juvenile type, early-onset adult type and late-onset adult type were analyzed, and the results showed that the frequency of seizures in juvenile type (16/17) was higher than that in early-onset adult type (8/21) and late-onset adult type (2/7), with statistically significant difference (χ 2=15.971, P<0.001). In addition, the frequency of cognitive impairment in juvenile type (16/17) was also higher than that in early-onset adult type (15/21) and late-onset adult type (2/7), also with statistically significant difference (χ 2=10.177, P=0.005). Cognitive impairment, language disorder and involuntary movement were common in early-onset adult patients, and about half of the patients had ataxia. Ataxia and language disorder were more common in late-onset adult patients, while seizures and cognitive impairment were rare. (3) In imaging, cerebellum and brainstem atrophy was the most common, followed by cortical atrophy and white matter lesions. (4) The number of trinucleotide (CAG) repeats was 53-79, and there was a significant negative correlation between the number of CAG repeats and the age of onset ( r=-0.765, P<0.001), that means the younger the age of onset, the higher the number of CAG repeats. (5) In terms of electrophysiology, 21 patients provided complete VEEG data, of which slowed activity (52%, 11/21) and generalized discharge (71%, 15/21) were more common, and focal discharge (33%, 7/21) was uncommon. Conclusions:DRPLA patients can present with epilepsy, cerebellar ataxia, and other clinical manifestations. Brainstem and cerebellar atrophy and white matter lesions can be relatively characteristic in imaging. In terms of electrophysiology, slowed activity and generalized discharge are more common. DRPLA patients are easy to be misdiagnosed in clinical practice and genetic confirmation helps confirm the diagnosis.

Objective:To evaluate the clinical efficacy of Jianpi Bushen Prescription in treating acute gouty arthritis with spleen-kidney deficiency syndrome using propensity score matching method.Methods:A retrospective analysis method was used to select 156 patients with acute gouty arthritis with spleen kidney deficiency type admitted from March 2022 to March 2024. They were divided into an observation group of 89 cases and a control group of 67 cases according to the treatment method. Propensity score matching (PSM) was further adopted to balance the confounding factors before treatment in a 1:1 ratio. Finally, 42 patients in each group were successfully matched. The control group received conventional Western medicine, the observation group received additional treatment with Jianpi Bushen Prescription on the basis of the control group. The treatment for both groups lasted for 1 month. TCM syndrome scores were performed before and after treatment, and the levels of serum uric acid (UA), ESR, and pH were measured using an automatic dry biochemical analyzer. The VAS scale was used to assess the degree of pain, the Oswestry Disability Index (ODI) was used to evaluate the degree of joint function improvement, and the Quality of Life Scale-36 (SF-36) was used to evaluate the quality of life of patients. Adverse reactions during treatment were observed and recorded to evaluate clinical efficacy.Results:The total effective rate of the observation group 92.86% (39/42) was higher than that of the control group 73.81% (31/42), with statistical significance ( χ2=5.49, P<0.05). After treatment, the joint pain, soreness and weakness of the waist and knees, poor flexion and extension, and pale and greasy tongue coating, were lower than those in the control group ( t values were 3.38, 4.26, 3.96, 3.97, 4.41, respectively, P<0.01). After treatment, the serum uric acid (UA) [(351.84±36.46) μmol/L vs. (380.19±39.42) μmol/L, t=3.42] and erythrocyte sedimentation rate (ESR) [(17.91±3.71) mm/h vs. (21.43±3.90) mm/h, t=4.24] of the observation group were lower than those in the control group, and the pH value (7.24±0.49 vs. 6.98±0.57, t=2.24) was higher than that of the control group ( P<0.05). After treatment, the VAS and ODI of the observation group were lower than those of the control group ( t values were 5.80, 6.25, respectively, P<0.01), and the SF-36 score was higher than that of the control group ( t=3.23, P<0.05). During the treatment, the incidence of adverse reactions was 14.29% (6/42) in the observation group and 9.52% (4/42) in the control group. There was no statistical significance in the incidence of adverse reactions between the two groups ( χ2=0.45, P>0.05). Conclusions:Jianpi Bushen Prescription has good efficacy on the treatment of acute gouty arthritis with spleen-kidney deficiency syndrome. It can reduce the levels of uric acid, improve the life quality of patients, and enhance efficacy, with good treatment safety.

Objective:To investigate the clinical manifestations, gene mutation characteristics, imaging and video electroencephalogram (VEEG) characteristics of patients with dentatorubral-pallidoluysian atrophy (DRPLA).Methods:The clinical data of 9 patients with genetically diagnosed DRPLA in the Neurology Center, Beijing Tiantan Hospital, Capital Medical University from January 2018 to January 2023 were collected, and the clinical data of DRPLA patients reported in China were retrieved and summarized.Results:A total of 45 cases were included. The clinical characteristics were summarized as follows: (1) The male to female ratio of 45 patients was 1.00∶1.25, and the age of onset was (28.11±14.58) years. (2) The main clinical symptoms of juvenile type, early-onset adult type and late-onset adult type were analyzed, and the results showed that the frequency of seizures in juvenile type (16/17) was higher than that in early-onset adult type (8/21) and late-onset adult type (2/7), with statistically significant difference (χ 2=15.971, P<0.001). In addition, the frequency of cognitive impairment in juvenile type (16/17) was also higher than that in early-onset adult type (15/21) and late-onset adult type (2/7), also with statistically significant difference (χ 2=10.177, P=0.005). Cognitive impairment, language disorder and involuntary movement were common in early-onset adult patients, and about half of the patients had ataxia. Ataxia and language disorder were more common in late-onset adult patients, while seizures and cognitive impairment were rare. (3) In imaging, cerebellum and brainstem atrophy was the most common, followed by cortical atrophy and white matter lesions. (4) The number of trinucleotide (CAG) repeats was 53-79, and there was a significant negative correlation between the number of CAG repeats and the age of onset ( r=-0.765, P<0.001), that means the younger the age of onset, the higher the number of CAG repeats. (5) In terms of electrophysiology, 21 patients provided complete VEEG data, of which slowed activity (52%, 11/21) and generalized discharge (71%, 15/21) were more common, and focal discharge (33%, 7/21) was uncommon. Conclusions:DRPLA patients can present with epilepsy, cerebellar ataxia, and other clinical manifestations. Brainstem and cerebellar atrophy and white matter lesions can be relatively characteristic in imaging. In terms of electrophysiology, slowed activity and generalized discharge are more common. DRPLA patients are easy to be misdiagnosed in clinical practice and genetic confirmation helps confirm the diagnosis.

Objective:To investigate the efficacy of endoscopic stent placement for patients with Bismuth type Ⅳ hilar cholangiocarcinoma.Methods:Data of 229 patients with unresectable Bismuth type Ⅳ hilar cholangiocarcinoma who successfully underwent endoscopic stent placement at the Department of Endoscopy, the Third Affiliated Hospital of Naval Medical University from January 2002 to January 2019 were retrospectively analyzed. Outcomes included clinical success rate, complication incidence, stent patency period and overall survival time. The patency of stents and overall survival time of patients were estimated by using the Kaplan-Meier method. The independent predictors for stent patency and overall survival of patients were analyzed by a multivariate Cox proportional regression model.Results:The overall clinical success rate was 78.2% (179/229). The incidence of early cholangitis after endoscopic retrograde cholangiopancreatography was 20.5% (47/229). The median stent patency and overall survival time were 5.7 (95% CI: 4.8-6.7) months and 5.1 (95% CI: 4.2-6.0) months, respectively. Further multivariate Cox regression analysis showed that metal stent ( P<0.001, HR=0.452, 95% CI: 0.307-0.666) and bilateral stents with bilateral angiography ( P=0.036, HR=0.644, 95% CI: 0.427-0.971) were independent predictors of stent patency; total bilirubin>200 μmol/L ( P=0.001, HR=1.627, 95% CI: 1.208-2.192), metal stent ( P=0.004, HR=0.636, 95% CI: 0.467-0.866) and antitumor therapy ( P<0.001, HR=0.439, 95% CI:0.308-0.626) were independent predictors of overall survival. Conclusion:There is high incidence of cholangitis in patients with unresectable Bismuth type Ⅳ hilar cholangiocarcinoma treated with endoscopic stenting. Longer stent patency can be achieved with metal stent placement and bilateral drainage. In addition, metal stent for drainage and antitumor therapy can also help increase the survival benefit.

Objective:To analyze the feasibility of developing clinical pediatrics curriculum for pediatric students at the pre-clinical stage, and to provide a basis for the subsequent curriculum construction.Methods:A total of 90 pediatric medical students were enrolled, including pre-clinical group (G1, third semester of the second year, n=47) and the clinical clerkship group (G2, seventh semester of the fourth year, n=43). A questionnaire survey was conducted to compare the two groups from three aspects: clinical interest, learning methods and learning ability. And 24 and 20 students were randomly selected from the two groups to participate a clinical course respectively. Both of the formative evaluation and in-class test were carried out to compare the learning performance and learning effect between G1 and G2. SPSS 22.0 was used for data analysis. The counting data were described by case number and rate, and the frequency between groups was compared by chi-square test. When the chi-square test condition is not met, Fisher's exact test was performed. Normal distribution test was carried out for measurement data. Two independent sample t test was conducted for the comparison between groups of normal distribution data and Mann-Whitney U test for the comparison between groups of skewed distribution respectively. Results:There was no significant difference in clinical interest and pre-clinical interest between the two groups (Fisher's exact probability method, P=0.252, 1.000). There were partial differences in learning methods: G1 spent more time learning after class ( Z=-2.36, P=0.018), learned more in spare time ( Z=2.53, P=0.011), learned more on the homework ( P=0.020), and had a higher preview rate ( Z=-5.07, P < 0.001). There were also partial differences in learning ability: G2 had better literature retrieval ability ( χ2=10.57, P=0.001); G2 had higher scores on class and extended class performance ( t=-3.18, P=0.004; t=-10.14, P<0.001). In terms of learning effect, G2 scored higher scores on only one multiple choice question ( t=-2.46, P=0.022). Conclusion:The pediatrics students at the pre-clinical stage have certain interest and ability to receive clinical pediatrics courses. Sufficient pre-class preparation and appropriate curriculum design are helpful to the early cultivation of student's clinical thinking.

Objective To analyze the characteristics of clinical manifestation, brain magnetic resonance imaging ( MRI ) and 18 F-fluoro-deoxy-glucose positron emission tomography ( FDG-PET ) , inflammatory cerebrospinal fluid ( CSF ) , electroencephalography ( EEG ) , and associated tumour in autoimmune epilepsy ( AE) patients with different autoantibodies. Methods Forty-two patients diagnosed as AE with different autoantibodies in Beijing Tiantan Hospital, Capital Medical University between May 2014 and May 2017 were recruited. The clinical manifestation, brain MRI and PET, CSF findings, EEG and biochemical examination of these patients were analyzed. Results Specific autoimmune antibodies were detected in 42 patients, including anti-amphiphysin in one patient, anti-contactin-associated protein 2 in two, anti-γ-aminobutyric acid-B receptor in six, anti-leucine-rich glioma inactivated 1(LGI1) in 24, anti-N-methyl-D-aspartate receptor ( NMDAR ) in nine. The case series of 42 patients had an average age of (49. 9 ± 14. 5) years with a male to female ratio of 5:1. Except anti-NMDAR associated AE, most patients (21/33) presented with the symptoms of limbic encephalitis including temporal lobe seizures, memory decline, personality and neuropsychiatric changes, mesial temporal lobe abnormality in MRI or FDG-PET, and CSF inflammation. The seizure semiologic characteristics included frequent seizure, short seizure duration and common secondarily generalized tonic-clonic seizures during sleeping. Faciobrachial dystonic seizures and hyponatremia were the special clinical manifestation of AE with anti-LGI1. AE patients with all kinds of antibodies presented as initial resistance to anti-epilepsy drugs ( AEDs) and favorable outcome of immunosuppressive treatment in combination with AEDs. Conclusions AE patients with each type of antibody have the special clinical manifestation. Except anti-NMDAR associated AE, the seizure semiologic characteristics often present as frequent and short seizures. All AE patients present as drug refractory epilepsy initially. Seizures in AE patients can be well controlled by immunotherapy combined with AEDs.

Objective To investigate the dynamic changes of three types of anti-poliovirus neutralizing antibodies and anti-hepatitis A virus (HAV) IgG antibody in children who were immunized with inactivated enterovirus 71 (EV71) vaccine (human diploid cell).Methods Serum samples were collected from the subjects immunized with inactivated EV71 vaccine.Neutralizing antibodies against EV71 and poliovirus were detected by micro-cytopathic effect neutralization test.Enzyme linked immunosorbent assay (ELISA) was used to detect IgG antibody against HAV.Results The geometric mean titers (GMTs) of anti-EV71 neutralizing antibody increased to 4.85 following the first-dose injection of inactivated EV71 vaccine.A significant increase of GMTs (up to 64.37) could be observed 28 days after the second-dose vaccination.Meanwhile, results of the dynamic monitor showed that there were slight fluctuations in the neutralizing antibodies against three types of poliovirus on day 28 (28 days after the first-dose vaccination) compared with those on day 0 (before vaccination) (P<0.05);types Ⅰ and Ⅲ anti-poliovirus neutralizing antibodies on day 56 (28 days after the second-dose vaccination) remained slightly different from those on day 0 (P<0.05), but type Ⅱ anti-poliovirus neutralizing antibody on day 56 had restored to normal level (P>0.05).The level of anti-HAV IgG antibody was stable and no significant difference was found during the observation period (P>0.05).Conclusion This study shows that inactivated EV71 vaccine has no impact on anti-HAV IgG antibody in Children during the two-dose vaccination and in anti-EV71 antibody-producing period, but has slight influence on the anti-poliovirus antibodies.In general, changes in antibody profile do not affect the clinical efficacy of immune response.

Objective To observe the expression of FAS/FASL in brain of autism model rats induced by sodium valproate,and study the role of FAS/FASL in pathogenesis of autism.Methods Female wistar rats were given a single intraperitoneal injection of sodium valproate(VPA,600 mg/kg) on 12.5 d after pregnancy,and their offspring were used as the experimental group;while the other pregnancy rats were given the same dose of normal saline,and their offspring were used as the control group.The growth,social and non-social behaviors,repetitive stereotyped movements of both groups were observed and tested.The expressions of FAS/FASL in brain of both groups on 1 d,7 d,l4 d,28 d,56 d and 90 d after birth were observed and compared by means of immunohistochemistry and image analysis.Results Compared with the control group,the rats in experimental group had stunted growth,a decrease in social behavior,an increase in non-social behavior,with repetitive stereotyped movements increased,and there were significant differences (all P ＜0.05) ;FAS/FASL expression was less on 1 d after birth,and it was growing gradually with age in days,and expression reached the peak on 28 d and then began to decrease.Compared with the control group,all day-old rats' FAS and FASL expression in the experimental group were significantly raised (all P ＜ 0.05).In experimental group,the brain FAS/FASL IOD values on 28 d after the birth reached the maximum,and 90 d after the birth reached the minimum.In the control group brain FAS/FASL IOD values on 14 d after the birth reached the maximum,and 1 d after the birth reached the minimum.Conclusions The apoptotic cell of autism model rats' brain neure is increasing firstly and then decreasing by FAS/FASL apoptotic pathway,and reach apoptosis peak on 28d.

Objective To explore the role of Bcl-2 and Bax in pathogenesis of the autism. Methods Female Sprague-Dawley rats were given a single intraperitoneal injection of sodium valproate (VPA, 600 mg/kg) on 12.5 d after pregnancy, their offspring were as the model group; while the other pregnancy rats were given normal saline, their offspring were as the control group. Both groups were observed with the Nissl staining, immunohistochemistry of Bcl-2 and Bax and image analysis 1 d, 7 d, 14 d, 28 d, 56 d after birth. Results Compared with the control group, Nissl staining showed the number of cortical neurons decreased on 1 d and 7 d after birth in the model group, rapidly increased on 14 d after birth, and maintained in high level on 28d , 56 d after birth. For immunohistochemistry, the integrated optical density (IOD) of Bcl-2 and Bax decreased in cortex on 1~14 d after birth (P<0.001) in both groups, and were stable 28 d after birth (P>0.05). Compared with the control group, the IOD of Bcl-2 decreased much more at every time point (P<0.001) in the model group, but the IOD of Bax increased on 1 d, 7 d (P<0.001), decreased on 14 d (P<0.001), similar 28 after birth(P>0.05). The ratio of Bcl-2/Bax was the most on 1 d after birth, and then decreased to approximately 1 in the control group, while it was the least on 7 d, most on 14 d, and decrease to less than 128 d after birth. Conclusion Apoptosis of cerebral cortex neurons increases in the autism model rats, especially in the early time.