OBJECTIVE: To explore the clinical and genetic features of a child with Pontocerebellar hypoplasia type 2B (PCH2B) due to compound heterozygous variants of the TSEN2 gene. METHODS: A PCH2B patient presented at Department of Pediatric Neurology, Xiangya Hospital of Central South University in June 2023 was selected as the study subject. Clinical data of the patient were retrospectively analyzed. The patient and her parents were subjected to whole exome sequencing and bioinformatic analysis. Pathogenicity of the candidate variants were classified based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). A literature review was also conducted by searching the China National Knowledge Infrastructure (CNKI), Wanfang Data, and PubMed databases from their establishment to May 2025 using keywords "TSEN2 gene" "PCH2B" and "Pontocerebellar Hypoplasia 2B" to summarize the clinical and genotypic features of patients with PCH2B due to variants of the TSEN2 gene. This study was approved by the Medical Ethics Committee of the Hospital (No.: #202310892). RESULTS: The patient, a 6-year-5-month-old girl, had exhibited severe global developmental delay, developmental regression, autism spectrum disorder, myoclonus of eyelids, feeding difficulty, irritability, progressive microcephaly, esotropia, and hypotonia. MRI showed reduced volume of bilateral cerebellar hemispheres and vermis. Genetic testing revealed that she has harbored compound heterozygous variants of the TSEN2 gene (NM_025265.4), namely c.1054A>T (p.Lys352*) and c.899G>T (p.Ser300Ile), which were inherited from her father and mother, respectively. Both variants were classified as likely pathogenic based on the ACMG guidelines and were previously unreported. Literature review has identified six PCH2B patients with missense, nonsense, frameshift, and splice site variants of the TSEN2 gene. Their main clinical manifestations included global developmental delay, progressive microcephaly, feeding difficulties, irritability, and vermis hypoplasia. Cranial MRI and genetic testing are crucial for definite diagnosis. CONCLUSION The c.1054A>T (p.Lys352*) and c.899G>T (p.Ser300Ile) compound heterozygous variants of the TSEN2 gene probably underlay the pathogenesis in this patient. Above findings has expanded the genotypic and phenotypic spectra of TSEN2-related PCH2B, and offered guidance for genetic counseling for this family.
Child ; Female ; Humans ; Cerebellar Diseases/genetics* ; Exome Sequencing ; Heterozygote ; Mutation

Objective: To explore the association between nap duration with anxiety and depressive symptoms among junior high school students, in order to provide evidence for mental health interventions for adolescents. Methods: From May to June 2022, a combination of convenience sampling and cluster sampling was used to select 2 491 students from 2 junior high schools in Haizhu District, Guangzhou City for questionnaire survey and physical examination. The questionnaire collected nap duration, night time sleep duration, bedtime, physical activity, and sedentary behavior. Anxiety and depressive symptoms were assessed using Patient Health Questionnaire-9 (PHQ-9) and Generalized Anxiety Disorder-7 (GAD-7), respectively. Log-binomial regression model was used to analyze the association of nap duration with anxiety and depressive symptoms, as well as comorbidity among junior high school students, and a restricted cubic spline (RCS) Log-binomial regression model was employed to analyze the non linear relationship after adjusting for covariates. Results: The detection rates of anxiety symptoms, depressive symptoms and comorbidity among junior high school students were 13.29%,14.65%,9.19%. After adjusting for covariates such as age, gender and nighttime sleep duration, compared with a school day nap duration of <30 min/d, a nap duration of 30-<60 min/d was associated with a reduced risk of anxiety symptoms ( APR =0.68, 95% CI =0.49-0.98) and comorbidity ( APR =0.56, 95% CI =0.39-0.87)(both P < 0.05 ). Compared with no napping on weekends, a nap duration of 30-<60 min/d was associated with a reduced risk of anxiety symptoms ( APR =0.62, 95% CI =0.41-0.88), depressive symptoms ( APR =0.52, 95% CI =0.34-0.75) and comorbidity ( APR = 0.52 , 95% CI =0.30-0.83)(all P <0.05). RCS curves showed a nonlinear relationship between weekend nap duration and the prevalence of anxiety, depressive symptoms and comorbidity among junior high school students(all P non linear <0.05); weekend nap duration of <120 min was associated with a lower risk of anxiety and depressive symptoms, and weekend nap duration of >180 min was associated with an increased risk. Conclusions Appropriate nap duration can help reduce the risk of anxiety, depressive symptoms, and the comorbidity among junior high school students. Adolescents should be guided to reasonably arrange nap duration for promoting physical and mental health.

Objective: To characterize perioperative dynamic changes in immune-cell phenotypes and inflammatory cytokines in patients undergoing CPB (cardiopulmonary bypass) cardiac surgery, and to explore their associations with postoperative outcomes. Methods: In this prospective cohort study, 120 adult patients who underwent elective cardiac surgery under CPB at West China Hospital from May 2022 to March 2023 were enrolled. Perioperative immune-cell phenotypes and concentrations of 40 inflammation-related cytokines were measured. The primary outcomes were the sequential organ failure assessment (SOFA) score at 24 h after surgery and ΔSOFA (the peak SOFA score within 48 h after surgery minus the preoperative SOFA score). Secondary outcomes included major adverse cardiovascular events (MACE), acute kidney injury (AKI), respiratory failure, severe liver injury, and infection. Results: The mean age of enrolled patients was 57±10 years. Of these, 52% (62/120) were male and 90% (108/120) underwent valve surgery. During the rewarming to the end of CPB, neutrophil counts rapidly increased (7.39×10 /L vs preoperative 3.07×10 /L, P<0.001), with significant upregulation of CD11b (7.30×10 /L vs preoperative 3.05×10 /L, P<0.001) and CD54 (7.15×10 /L vs preoperative 2.99×10 /L, P<0.001). Lymphocyte counts increased at the end of CPB (1.75×10 /L vs preoperative 1.12×10 /L, P<0.001) but decreased significantly at 24 h after surgery (0.59×10 /L vs preoperative 1.12×10 /L, P<0.001). Plasma analysis showed that multiple pro-inflammatory cytokines increased during CPB and remained elevated up to 24 h after surgery; five chemokines and the anti-inflammatory cytokine IL-10 peaked at the end of CPB. The SOFA score increased from 1 (1, 2) preoperatively to 7 (5, 10) at 24 h after surgery, with a ΔSOFA of 6 (4, 8). Within 30 days after surgery, 48 patients (40.0%) developed AKI, 17 (14.2%) developed infection, 4 (3.3%) developed severe liver injury, 3 (2.5%) developed respiratory failure, and 3 (2.5%) experienced MACE. During the 2-year follow-up, 8 patients (6.7%) experienced MACE and 5 (4.2%) died. Conclusion: Multi-organ dysfunction is common after cardiac surgery under CPB (median ΔSOFA, 6), accompanied by perioperative activation of multiple immune-cell subsets and upregulation of pro-inflammatory, anti-inflammatory, and chemotactic mediators. This study provides data-driven evidence and research clues for further investigation of the associations between CPB-related immune perturbations and postoperative organ dysfunction and clinical outcomes.

Objective To understand the clinical applicability and implementation of expert consensus on the implementation and removal of protective restraints in psychiatry,and to provide references for promoting the standardized practice of psychiatric protective restraints and updating the consensus.Methods By the convenience sampling method,a questionnaire survey was conducted among nurses from 480 hospitals in 30 provinces from June 15 to July 15,2024.The survey was conducted using the instrument for evaluating clinical applicability of guide-lines(version 2.0)and a self-compiled questionnaire on the clinical implementation of the restraint consensus.Results A total of 7,844 valid questionnaires were collected,with a valid questionnaire recovery rate of 93.78％.The results of clinical applicability scoring showed that the consensus had the lowest availability score(64.72％)and the highest acceptability score(76.74％).The results showed that nurses' receiving training and the level of their hospitals were the main influencing factors for scores in various dimensions(P＜0.05).4,774 participants(87.42％)believed that the application of consensus could enhance the standardization of nurses' restraint operations.The safety rate of the restraint consensus was 79.51％,and the economic ratio was 76.87％.Among the evaluators,1,739(22.17％)believed that there were implementation obstacles in the consensus.Conclusion The clinical applicability of the consensus is relatively good,and the application of the consensus helps to improve the standardization of clinical operations.In the future,efforts should be made to strengthen the promotion and training of the consensus,develop hierarchical promotion strategies according to the characteristics of medical institutions,and improve the quality of evidence for the consensus,so as to further enhance the clinical application effect of the consensus.

Objective To construction and investigate the application effect of auricular acupressure technology in patients with cough with different syndrome types.Methods From December 2022 to March 2023,the Delphi method was used to consult experts to form a technical scheme for auricular pressure in patients with cough with different syndrome types in the early and middle stages.122 patients with stage Ⅰ and stage Ⅱ lung cancer cough from the oncology department of 3 tertiary hospitals of Traditional Chinese Medicine in Beijing between July 2023 to January 2024 were randomly divided into an experimental group(61 cases)and a control group(61 cases).The experimental group referred to the constructed auricular acupressure technique program to identify and take acupoints,and the control group used the original auricular acupressure program for 7 d of continuous intervention.The changes in the scores of the Visual Analog Scale(VAS)and the scores of The MD Anderson Symptom Inventory for lung cancer(MDASI-LC)were observed in the 2 groups before and after the intervention.Results The final scheme included 3 first-level items,12 second-level items,and 14 third-level items.The 2 rounds of expert authority coefficients were 0.88,indicating a high degree of authority,and the Kendall harmony coefficients of the 2 rounds of correspondence were 0.170 and 0.130(P＜0.001),respectively,and the results tended to be consistent.A total of 122 patients completed the study.After intervention,the VAS score of cough severity in the experimental group was 3.0(2.0,3.0)points,which was lower than 3.0(3.0,4.0)points in the control group.The MDASI-LC score of the experimental group was 17.0(9.5,31.5)points,which was lower than 28.0(15.5,47.5)points in the control group,and the difference was statistically significant(P＜0.05).Conclusion The constructed auricular acupressure technique program has certain scientificity,and it can effectively relieve cough symptoms of stage Ⅰ～Ⅱ lung cancer patients,and the severity of symptom clusters has been improved,which provides the basis for TCM nursing intervention in cough symptoms of lung cancer patients.

Objective To design an intelligent airborne soldier physical training system based on human body composition analysis to solve the problems in diversity of training mode,targeted training plan and high incidence of military training-related injuries.Methods The intelligent airborne military physical training system was designed with B/S architecture and developed with Python language,which was composed of four functional modules for airborne soldier information acquisition,trainee physical fitness state assessment,physical fitness training program recommendation and airborne soldier physical fitness training program evaluation.The airborne soldier information acquisition module collected and analyzed the trainee physiological parameter information with a human body composition analyzer,clarified the parameter characteristics related to physical training with considerations on military physical training requirements and constructed a trainee physical fitness assessment parameter model;the trainee physical fitness state assessment module established an evaluation model based on machine learning to realize stage-by-stage physical fitness evaluation for airborne soldiers;the physical fitness training program recommendation module was constructed based on the physical training feature similarity algorithm and graph embedding theory to provide decision making assistance for program development of airborne military physical training;the airborne soldier physical fitness training program evaluation module compared the physical fitness and evaluation results before and after training by means of list and chart,and updated the training program based on the evaluation results by calling the physical training program recommendation module.Results The intelligent airborne soldier physical training system contributed to forming an individualized physical fitness training recommendation mechanism after trainee body evaluation,modifying training program based on comparison and feedback for stage-by-stage training evaluation,so as to decrease the incidence of military training-related injuries while increasing the training efficiency.Conclusion The system developed improves airborne soldier physical training in rationality and reliability,and provides references for intelligent military training of the PLA.[Chinese Medical Equipment Journal,2025,46(2):16-23]

Dampness-heat syndrome of the spleen and stomach refers to the evil dampness-heat invading the spleen and stomach,the abnormal rise and fall of the middle jiaoqi machinery,dampness-heat depression and steaming,the physiological dysfunction of the spleen and stomach,with abdominal distention and distention,nausea and lethargy of the limbs,poor loose stool,red tongue and yellow greasy fur,and slippery pulse as the main symptoms of the syndrome,most common in digestive system diseases,among which chronic gastritis is the first.This paper summarized the research results in the past decade and related fields.In the mode of combination of disease and syndrome,based on the principle of corresponding prescription and syndrome,combined with the etiology and pathogenesis evolution of spleen and stomach damp-heat syndrome,the biological connotation of spleen and stomach damp-heat syndrome was explained from various aspects such as inflammation and immune disorders,gastrointestinal motivity disorders,water and humidity loss,endoplasmic reticulum function,and micro-ecological disorders.Enrich the research of the essence of syndrome.

Objective:The SF-36 Scale was utilized to compare the differences in the dimensions of survival quality between subway microwave contact personnel and administrative personnel to provide a scientific basis for improving the quality of life of microwave contact personnel.Methods:In October 2023, 264 occupational personnel exposed to microwaves were selected as the microwave exposure group, and 104 administrative personnel not exposed to microwaves in a railroad enterprise were selected as the administrative control group. The self-administered basic data questionnaire and SF-36 Scale were applied to investigate the basic conditions, daily behaviors and survival quality of the research objects. And the microwave exposure doses of each post were measured. The differences in basic conditions, daily behaviors and survival quality of the microwave exposure group and the administrative control group were analyzed. And logistic regression was used to analyze the influencing factors of survival quality in the microwave exposure group.Results:There were significant differences in gender, age, marital status, smoking status and sleep status between the microwave exposure group and the administrative control group ( P<0.05) . The microwave exposure group had lower scores than the administrative control group in the six dimensions of role physical, body pain, general health, vitality, social function, mental health and SF-36 average total score, and had higher score in reported health transition ( P<0.05) . The logistic regression analysis showed that the probability of low total SF-36 score in microwave exposure group with bachelor's degree or above was 0.46 times that of junior college degree (95% CI: 0.24-0.90, P=0.023) . The probability of low total SF-36 score in microwave exposure group with exercised 4 or more times per week was 4.27 times that of those who never or occasionally exercised (95% CI: 1.41-13.00, P=0.010) . The probabilities of low total SF-36 score in microwave exposure group with sleep light and dream, wake up in the middle night and hard to fall asleep were 11.04 and 7.38 times higher than those without sleep disturbance (95% CI: 3.35-36.32, P<0.001; 95% CI: 1.42-38.50, P=0.018) . The probability of low total SF-36 score in microwave exposure group with daily dose of 1.74 μW·h/cm 2 was 1.75 times that of the daily dose of 1.02 μW·h/cm 2 (95% CI: 1.08-3.82, P=0.008) . Conclusion:The education level, physical exercise, sleep status and microwave exposure dose are important factors affecting the survival quality of microwave exposed personnel. Occupational health education and behavioral life intervention should be strengthened to improve their survival quality.

This study explored the effects and underlying mechanism of Raf kinase inhibitory protein(RKIP)on apoptosis in mast cells sensitized by Echinococcus granulosus cyst fluid.Bone marrow-derived mast cells(BMMCs)were isolated and cultured from RKIP knockout(KO)and wild-type(WT)C57BL/6 mice.Cells were divided into control and sensitized groups.The sensitized group was incubated for 24 h in RPMI1640 medium containing 10%serum from mice infected with E.granulosus,then activated for 3 h or 6 h with E.granulosus cyst fluid.The control group was incubated for 24 h in RPMI1640 medium,and then received an equal vol-ume of PBS.Cells and supernatants were collected for analysis.Flow cytometry was used to detect the expression of CD117 and FcεRⅠα on BMMCs.The levels of β-hexosaminidase,IL-4,and TNF-α in the supernatant were quantified with ELISA.Western blot analy-sis was used to assess expression changes in RKIP,apoptosis-related proteins,and pathway proteins in BMMC before and after sensi-tization.Flow cytometry analysis revealed that after 4 weeks of induction,the CD117 and FcεRⅠα double-positivity rates on both WT and KO BMMC exceeded 90%.ELISA indicated that the E.granulosus cyst fluid resulted in significantly greater β-hexosaminidase re-lease(F=16.88,P<0.05),and levels of IL-4(F=16.51,P<0.05)and TNF-α(F=9.78,P<0.05)in the KO sensitized group than the WT sensitized group.With respect to the WT control group,the WT sensitized group showed significantly down-regulated pro-tein expression levels of RKIP(F=8.20,P<0.05)and Bcl-2(F=101.40,P<0.01)after 3 h,but significantly up-regulated levels of p-PI3K(F=8.04,P<0.05),p-Akt(F=32.52,P<0.01),p-P65(F=13.29,P<0.05),and cleaved-caspase-3(F=46.34,P<0.01).With respect to the WT sensitized group,the KO sensitized group showed significantly up-regulated protein expression of p-PI3K(F=8.45,P<0.05),p-Akt(F=8.58,P<0.05),p-P65(F=11.02,P<0.05),and Bcl-2(F=84.50,P<0.001)after 3 h,but significantly down-regulated expression of cleaved-caspase-3(F=15.66,P<0.05).In conclusion,RKIP may inhibit the PI3K/Akt/NF-κB pathway,thereby inducing apoptosis in mast cells sensitized by E.granulosus cyst fluid.This process may help ease aller-gic reactions caused by mast cells in echinococcosis,thus offering a promising new approach for preventing and treating such reactions.

Objective To evaluate the efficacy and safety of high-power,short-duration radiofrequency catheter ablation for the treatment of persistent atrial fibrillation.Methods This retrospective study included 392 patients diagnosed with persistent atrial fibrillation who underwent catheter radiofrequency ablation at Suzhou Kowloon Hospital,Shanghai Jiao Tong University School of Medicine,from January 2019 to December 2023.Of these,256 patients were treated with high-power,short-duration ablation,and 136 patients with low-power,long-duration ablation.The following parameters were compared:radiofrequency ablation time,total procedure time,single-circle pulmonary vein isolation rate,immediate procedural success rate,number of ablation points,and perioperative complications(including pericardial tamponade,pseudoaneurysm,arteriovenous fistula,stroke,etc.).Follow-up assessments were conducted at 3,6,and 12 months post-surgery to evaluate the 12-month sinus rhythm maintenance rate.Results The ablation time in the high-power group was significantly shorter than that in the low-power group[(14.6±2.3)min vs.(30.3±4.2)min,P＜0.001],as was the total procedure time[(113.8±24.8)min vs.(128.5±26.7)min,P=0.001].There were no significant differences between the two groups in terms of pulmonary vein isolation rate(97.7％vs.94.9％,P=0.823),number of ablation points[(71.2±8.0)vs.(74.3±14.3),P=0.168],or perioperative complications(3.1％vs.4.4％,P=0.571).Regarding the maintenance rate of sinus rhythm at 12 months post-operation,the high-power group showed a higher rate than the low-power group,but no statistically significant difference was observed(82.8％vs.79.4％,P=0.399).Conclusions High-power,short-duration radiofrequency catheter ablation can improve procedural efficiency in the treatment of persistent atrial fibrillation.Its efficacy and safety are similar to those of the low-power,long-duration technique.