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:A great deal of evidence indicates that regular exercise can improve the health status of elderly individuals,including reducing overall and abdominal fat levels,increasing muscle mass and bone mineral density of the limbs,thereby preventing or delaying the onset of sarcopenia and its comorbidities.This study aims to determine the most reliable type,duration,and intensity of exercise interventions through meta-analysis to prevent,delay,and alleviate sarcopenia and its comorbidities in elderly individuals.METHODS:Randomized controlled trials examining the effects of exercise interventions on elderly individuals with sarcopenia and its comorbidities were searched in the PubMed,Embase,Web of Science,Cochrane Library,CNKI,and WanFang databases.The Cochrane Risk of Bias Tool was used to assess the quality of the included studies,and RevMan 5.3 software was employed for meta-analysis.Subgroup analyses were conducted to explore the effects of different exercise intervention protocols on various outcome measures.In addition,Stata 16.0 software was used to perform sensitivity analysis to assess the stability of the results,and funnel plots and Egger's test were employed to evaluate publication bias,ensuring the comprehensiveness and reliability of the results.RESULTS:(1)Sixteen studies involving 861 patients with sarcopenia and its comorbidities were included.(2)The meta-analysis results indicated that,compared with the control group,exercise significantly improved grip strength,knee muscle strength,appendicular skeletal muscle mass,skeletal muscle index,Timed Up and Go test results,gait speed,and insulin-like growth factor 1 levels(P＜0.05).However,the effect of exercise intervention on the sit-to-stand test was not significantly improved(P＞0.05).(3)Based on the results of subgroup analysis,it is recommended that elderly patients with sarcopenia and its comorbidities engage in exercise at least three times per week,with each session lasting no more than 30 minutes or exceeding 45 minutes,for at least 12 weeks.The exercise protocol should be flexibly adjusted according to the patient's health status and individual needs.CONCLUSION:Exercise interventions significantly improve muscle mass,muscle strength,physical function,and insulin-like growth factor 1 levels in elderly individuals with sarcopenia and its comorbidities,thereby enhancing their quality of life.However,further research is needed to validate these findings and optimize specific intervention protocols.

OBJECTIVE:A great deal of evidence indicates that regular exercise can improve the health status of elderly individuals,including reducing overall and abdominal fat levels,increasing muscle mass and bone mineral density of the limbs,thereby preventing or delaying the onset of sarcopenia and its comorbidities.This study aims to determine the most reliable type,duration,and intensity of exercise interventions through meta-analysis to prevent,delay,and alleviate sarcopenia and its comorbidities in elderly individuals.METHODS:Randomized controlled trials examining the effects of exercise interventions on elderly individuals with sarcopenia and its comorbidities were searched in the PubMed,Embase,Web of Science,Cochrane Library,CNKI,and WanFang databases.The Cochrane Risk of Bias Tool was used to assess the quality of the included studies,and RevMan 5.3 software was employed for meta-analysis.Subgroup analyses were conducted to explore the effects of different exercise intervention protocols on various outcome measures.In addition,Stata 16.0 software was used to perform sensitivity analysis to assess the stability of the results,and funnel plots and Egger's test were employed to evaluate publication bias,ensuring the comprehensiveness and reliability of the results.RESULTS:(1)Sixteen studies involving 861 patients with sarcopenia and its comorbidities were included.(2)The meta-analysis results indicated that,compared with the control group,exercise significantly improved grip strength,knee muscle strength,appendicular skeletal muscle mass,skeletal muscle index,Timed Up and Go test results,gait speed,and insulin-like growth factor 1 levels(P＜0.05).However,the effect of exercise intervention on the sit-to-stand test was not significantly improved(P＞0.05).(3)Based on the results of subgroup analysis,it is recommended that elderly patients with sarcopenia and its comorbidities engage in exercise at least three times per week,with each session lasting no more than 30 minutes or exceeding 45 minutes,for at least 12 weeks.The exercise protocol should be flexibly adjusted according to the patient's health status and individual needs.CONCLUSION:Exercise interventions significantly improve muscle mass,muscle strength,physical function,and insulin-like growth factor 1 levels in elderly individuals with sarcopenia and its comorbidities,thereby enhancing their quality of life.However,further research is needed to validate these findings and optimize specific intervention protocols.

ObjectiveTo observe the effect of Yifei Jianpi prescription on the of signal transducer and activator of transcription protein 1 （STAT1）/interferon regulatory factor 3 （IRF3） signaling pathway in a pneumonia model induced by lipopolysaccharide （LPS） and to explore the mechanism of Yifei Jianpi prescription in improving lung immune and inflammatory responses. MethodsSixty male SPF SD rats were used in this study. Ten rats were randomly assigned to the normal control group， and the remaining 50 were instilled with LPS in the trachea to establish a pneumonia model. After successful modeling， the rats were randomly divided into the model group， dexamethasone group （0.5 mg·kg^-1）， and Yifei Jianpi prescription high-dose （12 mg·kg^-1）， medium-dose （6 mg·kg^-1）， and low-dose （3 mg·kg^-1） groups， with 10 rats in each group. Treatment was administered once daily， and the normal control and model groups received the same volume of normal saline. After 14 days， flow cytometry was used to detect the classification of whole blood lymphocytes. Enzyme-linked immunosorbent assay （ELISA） was used to measure serum levels of immunoglobulin G （IgG）， immunoglobulin A （IgA）， immunoglobulin M （IgM）， and the content of tumor necrosis factor-α （TNF-α）， interleukin-8 （IL-8）， interleukin-6 （IL-6）， and interleukin-10 （IL-10） in alveolar lavage fluid （BALF）. Hematoxylin-eosin （HE） staining was used to observe lung tissue pathology and score the damage. Thymus weight， spleen weight， and wet-to-dry weight ratio （W/D） were recorded. Real-time fluorescence quantitative polymerase chain reaction （Real-time PCR） was used to detect the mRNA expression of STAT1， IRF3， IL-6， and interferon-alpha （IFN-α） in lung tissues， while Western blot was performed to assess the protein expression of STAT1， IRF3， IL-6， and IFN-α. ResultsCompared with the normal control group， the model group showed significantly increased proportion of B lymphocytes in peripheral blood， decreased proportions of NK cells and CD4⁺/CD8⁺ （P<0.05， P<0.01）， decreased serum levels of IgG and IgA， significantly increased IgM levels （P<0.01）， significantly elevated content of TNF-α， IL-6， and IL-8 in BALF， and significantly decreased IL-10 levels （P<0.01）. Lung tissue damage was evident， with significant increases in thymus and spleen weights and a higher W/D ratio （P<0.01）. The mRNA and protein expression of STAT1， IRF3， IFN-α， and IL-6 in lung tissues was significantly upregulated （P<0.05，P<0.01）. Compared with the model group， the Yifei Jianpi prescription groups showed significantly reduced proportions of B lymphocytes in peripheral blood， increased proportions of NK cells and CD4⁺/CD8⁺ ratios （P<0.05， P<0.01）， significantly increased serum levels of IgG and IgA， significantly decreased IgM levels （P<0.05， P<0.01）， significantly reduced levels of TNF-α， IL-6， and IL-8 in BALF， and significantly increased IL-10 levels （P<0.01）. Lung tissue damage was alleviated， thymus and spleen weights were significantly reduced， and the W/D ratio was markedly decreased （P<0.01）. The mRNA and protein expression of STAT1， IRF3， IFN-α， and IL-6 in lung tissues was significantly downregulated （P<0.05， P<0.01）. ConclusionYifei Jianpi prescription can alleviate lung tissue damage and improve immune and inflammatory responses in LPS-induced pneumonia rats. The mechanism may be related to the inhibition of STAT1/IRF3 signaling pathway activation.

With the rapid development of generative artificial intelligence(GAI)technologies,their widespread application in academic research and writing is continuously expanding the boundaries of sci-entific inquiry.However,this trend has also raised a series of ethical and regulatory challenges,inclu-ding issues related to authorship,content authenticity,citation accuracy,and accountability.In light of the growing involvement of AI in generating academic content,establishing an open,controllable,and trustworthy ethical governance framework has become a key task for safeguarding research integrity and maintaining trust within the academic community.This expert consensus outlines ethical requirements across key stages of AI-assisted academic writing-including topic selection,data management,citation practices,and authorship attribution.It aims to clarify the boundaries and ethical obligations surrounding AI use in academic writing,ensuring that technological tools enhance efficiency without compromising in-tegrity.The goal is to provide guidance and institutional support for building a responsible and sustainable research ecosystem.

Objective To investigate the safety and efficacy of zero-ischemia and sutureless laparoscopic partial nephrectomy using thulium laser for the treatment of localized renal cell carcinoma.Methods A retrospective analysis was performed on the clinical data of 28 patients with localized renal cell carcinoma admitted to our hospital from January 2020 to March 2023.Laparoscopic zero-ischemia suturing thulium laser partial nephrectomy was adopted.The surgical data,postoperative changes in renal function,perioperative complications,and prognosis were analyzed.Results Three patients underwent traditional partial nephrectomy immediately by blocking the renal arteries during the operation due to poor hemostasis.The remaining 25 patients successfully completed zero-ischemia and sutureless laparoscopic partial nephrectomy using thulium laser,without intraoperative blood transfusion or open surgery.The surgical time ranged from 85 to 135 min,with an average of(108.4±14.7)min,the estimated blood loss was 50-250 ml,with an average of(117.7±51.7)ml.The drainage tube was removed 4-7 days postoperative,with an average of(5.6±0.9)days.The postoperative hospital day was 6～10 days,with an average of(7.7±0.9)days.There were no severe complications such as urinary fistula or secondary bleeding occurred.Preoperative serum creatinine was 60.4-116.0 μmol/L,with an average of(74.0±20.5)μmol/L.One week after the operation,the creatinine was 58.6-120.8 μmol/L,with an average of(73.5±21.8)μmol/L,which was not significant compared with that before surgery(P＞0.05).Postoperative pathology revealed 23 cases of clear cell renal cell carcinoma,4 cases of papillary renal cell carcinoma,and 1 case of chromophobe cell carcinoma.All cases was shown negative margins and there was no recurrence or metastasis during a follow-up period of 12 to 24 months.Conclusion Zero-ischemia and sutureless laparoscopic partial nephrectomy using thulium laser can better preserve kidney function without ischemia reperfusion injury.It is a safe and feasible surgical option for patients with localized renal cell carcinoma.

Artificial intelligence (AI) technologies are being widely applied in radiotherapy. However, the integration of AI into clinical workflows of radiotherapy faces a series of challenges, such as poor model interpretability, domain shifts between clinical application and training data, and the inherent model uncertainties. Therefore, case-specific quality assurance (QA) is essential before deploying AI models in clinical practice. This paper reviews and summarizes QA methodologies for the application of AI models in radiotherapy across four key areas: image registration, image generation, region of interest segmentation, and treatment planning.

Objectives:To analyze the risk factors of atrial fibrillation in patients with non-obstructive hypertrophic cardiomyopathy(NOHCM)and explore the relationship between left ventricular/atrial volume and atrial fibrillation.Methods:Consecutive NOHCM patients admitted at Fuwai Hospital from January 2023 to January 2024 with complete clinical data,satisfactory echocardiography imaging data were included in this analysis,patients were divided into atrial fibrillation group(n=28)and non-atrial fibrillation group(n=57).Left-sided volumetric and functional parameters were measured by one-beat real-time full-volume three-dimensional echocardiography,including left ventricular end-diastolic volume(LVEDV),left ventricular end-systolic volume(LVESV),left ventricular ejection fraction(LVEF),left atrial volume(LAV).The left ventricular end-diastolic volume(LVEDVi)index,left ventricular end-systolic volume index(LVESVi)and left atrial volume index(LAVi)were calculated.Other echocardiographic parameters including interventricular septum(IVSmax)thickness,left ventricular posterior wall thickness(LVPW),and left atrial diameter(LAD)were routinely measured.Mitral valve forward flow spectrum,tissue Doppler,tricuspid regurgitation velocity,and left atrial size were used to evaluate the left ventricular diastolic function of patients,and diastolic dysfunction was classified into grade I,II,and III.Multivariate logistic regression was used to analyze the influencing factors of atrial fibrillation in patients with non-obstructive hypertrophic cardiomyopathy Results:Compared with the non-atrial fibrillation group,LVEDV([143.8±26.7]ml vs.[117.1±21.9]ml)and LVEDVi([79.4±11.9]ml/m2 vs.[64.2±10.6]ml/m2)were smaller in atrial fibrillation group(both P<0.001).Compared with the non-atrial fibrillation group,LAD([40.2±4.7]mm vs.[48.6±4.8]mm)and LAVi([37.3±8.9]ml/m2 vs.[64.4±17.1]ml/m2)were lager in atrial fibrillation group(both P<0.001).Compared with the non-atrial fibrillation group,the proportion of NYHA functional classification≥Ⅲ was higher(15.8%vs.50.0%,P<0.001),LVEF was lower([61.5±5.5]%vs.[57.6±5.0]%,P=0.002),and proportion of severe diastolic dysfunction was higher in atrial fibrillation group(P<0.001).Logistic regression analysis showed that the factors associated with atrial fibrillation in NOHCM patients were LVEDVi(OR=0.744,95%CI:0.575-0.962,P=0.024)and LAVi(OR=1.602,95%CI:1.032-2.486,P=0.036).Conclusions:LVEDVi and LAVi are related factors for atrial fibrillation in patients with non-obstructive hypertrophic cardiomyopathy.LVEDVi is negatively,while LAVi is positively associated with the occurrence of atrial fibrillation in NOHCM patients.

Objective:To investigate variation and correlation of type 2 intrinsic lymphocyte(ILC2)and related factors in acute and chronic brucellosis,to identify immune role of ILC2 in chronic brucellosis.Methods:Forty-three patients with acute brucel-losis and 45 patients with chronic brucellosis were compared with 49 healthy controls.ILC2 level in each group was detected by flow cytometry.mRNA level of GATA3 in PBMC was detected by fluorescence quantitative PCR.Serum IL-33,ST2,IL-4 and IL-13 levels were detected by ELISA.ALT and AST levels were measured by fully automatic biochemical analyzer.Results:ILC2 level,GATA3 mRNA in PBMC,serum IL-33,IL-4 and IL-13 levels in chronic brucellosis group were significantly higher than healthy control group and acute brucellosis group(P<0.01).Correlation analysis showed that ILC2 level was positively correlated with GATA3 mRNA,IL-33,IL-4 and IL-13 levels,while negatively correlated with ST2 level.ROC curve suggested that ILC2,GATA3,IL-33 and ST2 had good predictive ability for severity of brucellosis patients(AUC>0.7).Conclusion:Increase of ILC2 and its related factors are closely related to chronic brucella infection,which may play an important immune role in pathogenesis of brucella infection.

Objective:To analyze the association between healthcare workers mental health,institu-tional supplies and facilities,inter-organizational coordination during infectious disease outbreaks,and the healthcare institution resilience.Methods:An online questionnaire survey was conducted among the healthcare workforce from 146 institutions in Beijing from January 13,2023 to February 9,2023,and a total of 1 434 eligible respondents were included.The sample comprised 408 responses from tertiary hos-pitals,117 from secondary hospitals,and 909 from primary care institutions.The resilience indicator for healthcare institutions was defined as the degree to which medical services met patient demands,with in-fluencing factors including physical factors,such as material shortages and facility space adaptation or ex-pansion,organizational factors such as information sharing and patient referral,and psychological factors were evaluated using job satisfaction(extrinsic satisfaction,intrinsic satisfaction),burnout(emotional exhaustion,depersonalization,reduced personal accomplishment),and depression status.Ordered mul-ticlassification Logistic regression was used to examine the impact of various factors on the degree to which healthcare services met patient needs;additionally,demographic factors that might influence institutional resilience were controlled.Results:During the emergency response phase,93％of hospitals maintained the capacity to meet patient needs,though tertiary hospitals demonstrated significantly higher rates of service inadequacy(21.05％).Material shortages were reported across all institutions,with tertiary hos-pitals experiencing more frequent multi-item shortages.Inter-institutional collaboration patterns revealed substantial variation:87.50％of primary care facilities,42.86％of secondary hospitals,and 31.58％of tertiary hospitals.Healthcare workers across all levels reported mild depressive symptoms and moderate-to-severe burnout levels.Regression analysis showed high satisfaction(overall satisfaction β=0.04,ex-trinsic satisfaction β=0.06,and intrinsic satisfaction β=0.08),low degree of job burnout(emotional exhaustion β=-0.04,depersonalization β=-0.07 and reduced personal accomplishment β=0.01),low degree of depression(β=-0.06)were significantly associated with higher healthcare institution re-silience.In addition,material shortages were significantly associated with lower resilience,and renova-tion and expansion of treatment spaces,and information sharing,were all associated with higher resilience.Demographic factors(age,gender,marital status,educational background,etc.)had no sig-nificant impact on resilience.Conclusion:Mental health status significantly influences healthcare institu-tion resilience.As human resources constitute the core asset of healthcare institutions,strategic optimiza-tion of workforce allocation and psychological support interventions can effectively strengthen resilience.Moreover,healthcare institution resilience is positively impacted by orderly material supply chains,timely resource distribution,and adaptive reconfiguration of clinical spaces.Finally,facilitating information sharing also enhances institutional resilience.