Dentatorubral-pallidoluysian atrophy（DRPLA） is a rare autosomal dominant neurodegenerative disease caused by CAG triplet expansion in the atrophin 1 （ATN1） gene. Up to now， the pathogenesis of DRPLA remains unclear. The main clinical features of DRPLA include myoclonus， epilepsy， ataxia， choreoathetosis， and cognitive impairment. DRPLA has great clinical heterogeneity， and the number of CAG repeats is negatively correlated with age of onset and disease severity. Some patients with late-onset DRPLA may have atypical manifestations without typical imaging changes， which brings challenges to the diagnosis of the disease. This article reviews the pathogenesis， pathological features， clinical and imaging manifestations， diagnosis， and potential treatment of DRPLA， in order to deepen the understanding of this disease.
Ataxia ; Myoclonus

OBJECTIVES: To explore the mechanism of Qingda Granules (QDG) for alleviating brain damage in spontaneously hypertensive rats (SHRs). METHODS: Twelve 5-week-old SHRs were randomized into SHR control group and SHR+QDG group treated with QDG by gavage at the daily dose of 0.9 g/kg for 12 weeks. The control rats, along with 6 age-matched WKY rats, were treated with saline only. Blood pressure changes of the rats were monitored, and pathologies and neuronal apoptosis in the cerebral cortex were examined with HE staining and TUNEL staining. Cerebral cortical expressions of miR-124 and STAT3 mRNA were detected using RT-qPCR, and the protein expressions of NeuN, STAT3, Bcl-2, Bax, and cleaved caspase-3 were detected with immunohistochemistry and Western blotting. In a HT22 cell model of oxygen and glucose deprivation/reoxygenation (OGD/R), the effects of QDG on cell viability and apoptosis, expressions of miR-124 and STAT3 mRNA, and protein expressions of STAT3, Bcl-2, Bax, and cleaved caspase-3 were evaluated using CCK8 assay, Hoechst 33342 staining, RT-qPCR, and Western blotting. RESULTS: Compared with WKY rats, SHRs had significantly elevated systolic blood pressure, diastolic blood pressure and mean arterial pressure with significantly increased neuronal apoptosis in the cerebral cortex, reduced expressions of NeuN, miR-124 and Bcl-2, and enhanced expressions of STAT3, Bax and cleaved caspase-3 (P<0.05). All these changes in the SHRs were significantly ameliorated by treatment with QDG (P<0.05). In the HT22 cell model, QDG treatment obviously reduced OGD/R-induced cell apoptosis, increased the expressions of miR-124 and Bcl-2, and suppressed the elevation of protein expressions of STAT3, Bax and cleaved caspase-3. CONCLUSIONS QDG inhibits cerebral cortical neuronal apoptosis and thereby attenuates brain damage in SHR rats by modulating the miR-124/STAT3 signaling axis.
Animals ; Rats, Inbred SHR ; MicroRNAs/metabolism* ; STAT3 Transcription Factor/metabolism* ; Signal Transduction/drug effects* ; Drugs, Chinese Herbal/pharmacology* ; Rats ; Apoptosis/drug effects* ; Rats, Inbred WKY ; Male ; Hypertension

Objective To explore the efficacy of bilateral facial muscle training combined with visual electromyography biofeedback on facial nerve function recovery in patients with idiopathic facial nerve palsy. Methods Patients with idiopathic facial nerve palsy admitted to Shanghai Fifth People’s Hospital, Fudan University from July 2022 to July 2024 were selected and randomly divided into a control group and an intervention group. The control group received conventional physical factor therapy, while the intervention group received bilateral facial muscle training combined with visual electromyography biofeedback therapy based on the control group’s regimen. After 20 treatment sessions, the total effective rate, the House-Brackmann (H-B) facial nerve grading system, the Sunnybrook Facial Grading System (SFGS) score, and the average value ratio of maximal amplitudes of bilateral frontalis and zygomaticus muscles were compared between the two groups. Results A total of 90 patients were included, 45 in each group. After 20 treatment sessions, the total effective rate was significantly higher in the intervention group than in the control group (84.4% vs 75.6%, P＝0.003). Compared with the control group, the intervention group demonstrated a significantly lower H-B grade (P＝0.003) and a higher SFGS score (P＝0.001). The average value ratios of maximal amplitudes of the affected versus healthy side frontalis (P＝0.013) and zygomatic (P＝0.022) muscles were higher in the intervention group than in the control group. Conclusions Bilateral facial muscle training combined with visual electromyography biofeedback is an effective approach for treating idiopathic facial nerve palsy, effectively promoting the recovery of facial nerve function, and improving facial symmetry and facial muscle function.

Deep brain stimulation(DBS),including optical stimulation and electrical stimulation,has been demonstrated considerable value in exploring pathological brain activity and developing treatments for neural disorders.Advances in DBS microsystems based on implantable microelectrode array(MEA)probes have opened up new opportunities for closed-loop DBS(CL-DBS)in situ.This technology can be used to detect damaged brain circuits and test the therapeutic potential for modulating the output of these circuits in a variety of diseases simultaneously.Despite the success and rapid utilization of MEA probe-based CL-DBS microsystems,key challenges,including excessive wired communication,need to be urgently resolved.In this review,we considered recent advances in MEA probe-based wireless CL-DBS microsystems and outlined the major issues and promising prospects in this field.This technology has the potential to offer novel therapeutic options for psychiatric disorders in the future.

Objectives:To explore the imaging features of patients with isolated left ventricular apical hypoplasia(ILVAH). Methods:Twelve patients diagnosed with ILVAH(ILVAH group)in our hospital from April 2018 to August 2023 were enrolled,and all of them received transthoracic echocardiography(TTE)examination;9 patients underwent CMR examination;and 1 patient underwent CT examination.Clinical data and imaging characteristics of the patients were analyzed.At the same time,twelve healthy age and sex matched participants who underwent physical examination in the same period were selected as the control group. Results:TTE showed that:compared with the control group,the left ventricular transverse diameter([46.3±5.7]mm vs.[57.8±12.6]mm)and right ventricular long diameter([62.0±4.2]mm vs.[73.6±6.4]mm)were larger in the ILVAH group(P＜0.05),the left ventricular long diameter([63.0±3.5]mm vs.[53.4±8.2]mm)was smaller(P＜0.05).There was no significant difference in right ventricular transverse diameter between the two groups(P＞0.05).The interventricular septum was convex to the right ventricle,and the thickness at the apex was(5.2±2.0)mm in the ILVAH group.The papillary muscles were all attached to the flat left ventricular apex.Among the 9 patients who underwent CMR examination,adipose tissue replacement was found in the left ventricular apex in 7 out of the 9 patients,and endocardial fibrosis was found in 2 out of the 9 patients. Conclusions:The clinical presentation of ILVAH is non-specific,but there are specific imaging manifestations that may help improve the understanding of the disease.

Objectives:To compare the diagnostic efficacy of non-ST-segment elevation myocardial infarction (NSTEMI) and the predictive value for major adverse cardiovascular events (MACE) of the 0/3-hour algorithm for high-sensitivity cardiac troponin (hs-cTn) recommended by the 2015 European Society of Cardiology (ESC) guidelines for the management of non-ST-segment elevation acute coronary syndrome (NSTE-ACS) and the 2021 "Chinese Expert Consensus on Laboratory Testing and Clinical Application of Cardiac Troponin" in suspected acute coronary syndrome (ACS) patients in the Chinese population. Methods:This is a multicenter prospective observational study,including 1527 patients with suspected ACS from three clinical centers from January 2017 to September 2020.Plasma hs-cTnI levels were measured using the ARCHITECT assay at the time of presentation and 3 hours later in patients with suspected ACS (test determination).Clinical judgment (independent clinical judgment by cardiac experts,independent of the test results) was used as the gold standard to compare the sensitivity,specificity,and consistency of the two diagnostic algorithms,and to analyze their predictive value for MACE at 30 days and 180 days.MACE in this study was defined as a composite event of cardiovascular death,myocardial infarction,and unplanned coronary revascularization. Results:According to clinical judgment,there were 400 patients with NSTEMI and 1127 patients without NSTEMI.The 0/3-hour algorithm recommended by the 2021 Chinese Expert Consensus showed higher sensitivity in diagnosing NSTEMI than the 2015 ESC guidelines (91.50％[95％ CI:88.32％-94.04％]vs.87.75％[95％ CI:84.13％-90.80％]),but slightly lower specificity (93.88％[95％ CI:92.32％-95.21％]vs.95.56％[95％ CI:94.19％-96.69％]),with both differences being statistically significant (both P<0.001).In the follow-up at 30 days and 180 days,the incidence of MACE in patients diagnosed with NSTEMI by both algorithms was higher than in those without NSTEMI (P<0.001).The incidence of MACE at 30 days and 180 days for the group excluded from the diagnosis of NSTEMI by 2015 ESC guidelines was 0.19％ and 1.120％,respectively,and for the NSTEMI group was 2.89％ and 3.68％,respectively;for the group excluded from NSTEMI by the 2021 Chinese Expert Consensus,the incidence was 0.096％ and 0.770％,respectively,and for the NSTEMI group was 2.91％ and 4.36％,respectively.Cox analysis showed that the HR ratio for MACE at 180 days in the NSTEMI group diagnosed by both algorithms was 3.418 and 5.892,respectively,significantly higher than the group excluded from NSTEMI. Conclusions:The 0/3-hour algorithm recommended by the 2021 Chinese Expert Consensus has superior diagnostic sensitivity compared to the 2015 ESC NSTE-ACS guidelines,at the cost of slightly lower specificity.Both algorithms can effectively predict MACE within 180 days,but based on the data from this study,the algorithm recommended by the 2021 Chinese Expert Consensus is more sensitive in predicting the risk of MACE,and patients excluded from the diagnosis of NSTEMI by this method have a lower incidence of MACE,suggesting that its application in clinical practice may be more helpful in terms of long-term safe management of patients.

ObjectiveTo systematically evaluate the efficacy and safety of Tianmeng Oral Liquid in the treatment of hyperprolactinemia caused by antipsychotics in female patients with schizophrenia， and to provide references for intervention of antipsychotic-induced hyperprolactinemia patients. MethodsEnglish databases （PubMed， Cochrane Library， PsycINFO and Embase） and Chinese databases （CNKI and Wanfang） were systematically searched， with a search time frame of the period from database creation to September 16， 2022. Randomized controlled studies （RCTs） on adjunctive Tianmeng Oral Liquid in the treatment of hyperprolactinemia caused by antipsychotics in female patients with schizophrenia were included. Three investigators independently screened the literatures and extracted data according to PICOS principles and evaluated the quality of including literatures， and the Meta-analysis was performed by using RevMan 5.3. ResultsA total of 3 articles including 256 female schizophrenic patients with hyperprolactinemia were included. Meta-analysis results showed that at the treatment endpoint， the improvement of hyperprolactinemia symptoms reported a significant superiority of the intervention group than the control group （RR=1.73， 95% CI： 1.07~2.79， P˂0.05）. Similarly， the significant superiority of the intervention group than the control group were also found in reducing serum prolactin levels （WMD=-55.17， 95% CI： -68.16~-42.18， P<0.01） and Positive and Negative Syndrome Scale （PANSS） total scores were lower in the intervention group than in the control group （WMD=-7.36， 95% CI： -8.94~-5.77， P<0.01）. ConclusionTianmeng Oral Liquid may help improve clinical efficacy and reduce serum prolactin levels in female schizophrenia patients with hyperprolactinemia. It may improve psychiatric symptoms in female patients with schizophrenia.

Objective:To develop a Risk Assessment Index System (RAIS) on HIV infection among young students based on Delphi method and to provide individual HIV infection risk assessment, targeted prevention and control measures.Methods:Delphi method was applied to determine the index system and weight of the assessment tool through three rounds of expert consultation and overall consideration of opinions and suggestions from 19 experts.Results:The positivity coefficients of three rounds of expert consultation were 100%. The authority coefficient of experts was between 0.887 and 0.945. The Kendall's W coefficients through first, second and third round specialist consultation was 0.379, 0.329 and 0.248, respectively (all P<0.001). The coefficients of variation in the third round were all less than 0.25, indicating that experts' opinion tend to be consistent and the results are highly reliable. The HIV infection risk assessment index system among young students consisted of 7 first grade indices and 54 second grade indices, of which weight was calculated. Conclusions:The RAIS on HIV infection for young students was initially established based on Delphi method, and could be used in the development of HIV infection risk assessment tools for personalized prevention and intervention among young students. However, the reliability, validity and effect of this assessment index system need to be further evaluated.

Objective:To explore the difference of sexual health characteristics and demands in students in different groups, and provide the basis for targeted sexual health eduction for AIDS prevention in young students.Methods:A survey was conducted based on the requirement of health education about sexual health and AIDS prevention in young students by the education department of Guangdong province. A two-step cluster analysis was performed on the survey data obtained by convenient sampling, the variables and number of clusters included were determined by combination of analysis results and professional knowledge. The demographic characteristics, the content and form of sexual health education needed were compared among different groups.Results:Survey data of 3 884 students were collected, and six variables were used for classification: cognition or occurrence masturbation, sexual behavior, frequency of sexual information acquisition, number of acceptable sex partners and AIDS knowledge awareness rate. By these variables, the students were classified into three levels of risk groups: high risk group (46.6%), medium risk group (39.9%) and low risk group (13.5%). As for demographic characteristics, high risk group, with a median age of 19 years, had the highest proportions of boys (65.9%), students with non-heterosexuality orientation (15.2%), urban residents (58.2%), only children (30.8%) and undergraduates (54.7%). Medium risk group, with a median age of 19 years, had the highest proportions of girls (82.7%) and vocational college students (34.0%). Low risk group, with a median age of 18 years, had the highest proportions of rural residents (52.4%), non-only child (80.6%), senior high school students (41.3%), non-boarding students (17.5%) and students without internship and part-time job experience (43.2%). In terms of health education demands, high risk group had a higher demand of information about self-identity, sexual safety, sexual decision making, contraception, abortion, and sexually transmitted disease or AIDS prevention. Medium risk group paid more attention to value on love and marriage, sexual assault. Low risk group showed a higher demand of adolescent physiology knowledge. Compared with low risk group, high risk group had a higher demand of peer education, Internet/multimedia, anonymous counseling and other forms of sexual health education. The differences were significant.Conclusion:The characteristics, sexual knowledge awareness, attitude and behavior, and health education demands of young students in different groups are different, so health education materials and methods should be developed according to the characteristics of different groups to enhance the acceptance and enthusiasm of students and improve the quality of sexual health education.

Objective:To analyze the influencing factors for HIV testing services utilization in students with self-assessed high risk of HIV infection.Methods:The research framework of the influencing factors for HIV testing services utilization in students was developed based on Andersen's health services utilization behavioral model and related literature. A cross-sectional survey was performed in students with self-assessed high risk of HIV infection by an online HIV infection risk assessment tool from March to April 2019. Multiple logistic regressions were applied with hierarchical model.Results:A total of 526 students were included in the study (age: 19.30±1.19 years old), in whom 96.2% agreed that HIV testing should be received after high-risk behavior. 56.7% (298/526) had sexual behavior and the HIV testing rate was 11.0% (58/526). The HIV testing rates in students who had and had no sex behavior were 13.42%(40/298) and 7.89% (18/228), respectively. According to the results from multivariate logistic regression analysis, non-heterosexual (compared with heterosexual, OR=7.88, 95% CI: 3.98-15.61) and higher score of AIDS knowledge awareness (compared with lower score, OR=2.05, 95% CI: 1.07-3.93) in propensity factor module, and having risk sexual behavior (compared with having no risk sexual behavior, OR=2.66, 95% CI: 1.41-5.03) and having diagnosis of STD infection in hospital (compared with having no such diagnosis, OR=6.35, 95% CI: 2.21-18.27) in demand factor module, and receiving health education about AIDS prevention in the past year (compared with receiving no such health education, OR=0.29, 95% CI: 0.11-0.76) and receiving health education about AIDS testing service in the past year (compared with receiving no such health education, OR=3.67, 95% CI: 1.71-7.90) in ability factor module were the influencing factors for utilization of HIV testing services. Conclusions:The acceptance of HIV testing in students needs to be improved urgently. Propensity factors, such as their AIDS knowledge awareness and sexual orientation, and demand factors, such as having risk sexual behavior and STD infection, have obvious impacts on the utilization of HIV testing services. However, health education about AIDS prevention and HIV testing service can play a more important role in facilitating the utilization of HIV testing in students. In the future, we should further strengthen the publicity of voluntary HIV counseling and testing service in students with particular attention to girls and those with risk sexual behaviors.