Objective: : The objective of this study was to assess the relationship between spermine synthase (SMS) expression, tumor occurrence, and prognosis in lower-grade gliomas (LGGs). Methods: : A total of 523 LGG patients and 1152 normal brain tissues were included as controls. Mann-Whitney U test was performed to evaluate SMS expression in the LGG group. Functional annotation analysis was conducted to explore the biological processes associated with high SMS expression. Immune cell infiltration analysis was performed to examine the correlation between SMS expression and immune cell types. The association between SMS expression and clinical and pathological features was assessed using Spearman correlation analysis. In vitro experiments were conducted to investigate the effects of overexpressing or downregulating SMS on cell proliferation, apoptosis, migration, invasion, and key proteins in the protein kinase B (AKT)/epithelialmesenchymal transition signaling pathway. Results: : The study revealed a significant upregulation of SMS expression in LGGs compared to normal brain tissues. High SMS expression was associated with certain clinical and pathological features, including older age, astrocytoma, higher World Health Organization grade, poor disease-specific survival, disease progression, non-1p/19q codeletion, and wild-type isocitrate dehydrogenase. Cox regression analysis identified SMS as a risk factor for overall survival. Bioinformatics analysis showed enrichment of eosinophils, T cells, and macrophages in LGG samples, while proportions of dendritic (DC) cells, plasmacytoid DC (pDC) cells, and CD8+ T cells were decreased. Conclusion : High SMS expression in LGGs may promote tumor occurrence through cellular proliferation and modulation of immune cell infiltration. These findings suggest the prognostic value of SMS in predicting clinical outcomes for LGG patients.

Objective: : The objective of this study was to assess the relationship between spermine synthase (SMS) expression, tumor occurrence, and prognosis in lower-grade gliomas (LGGs). Methods: : A total of 523 LGG patients and 1152 normal brain tissues were included as controls. Mann-Whitney U test was performed to evaluate SMS expression in the LGG group. Functional annotation analysis was conducted to explore the biological processes associated with high SMS expression. Immune cell infiltration analysis was performed to examine the correlation between SMS expression and immune cell types. The association between SMS expression and clinical and pathological features was assessed using Spearman correlation analysis. In vitro experiments were conducted to investigate the effects of overexpressing or downregulating SMS on cell proliferation, apoptosis, migration, invasion, and key proteins in the protein kinase B (AKT)/epithelialmesenchymal transition signaling pathway. Results: : The study revealed a significant upregulation of SMS expression in LGGs compared to normal brain tissues. High SMS expression was associated with certain clinical and pathological features, including older age, astrocytoma, higher World Health Organization grade, poor disease-specific survival, disease progression, non-1p/19q codeletion, and wild-type isocitrate dehydrogenase. Cox regression analysis identified SMS as a risk factor for overall survival. Bioinformatics analysis showed enrichment of eosinophils, T cells, and macrophages in LGG samples, while proportions of dendritic (DC) cells, plasmacytoid DC (pDC) cells, and CD8+ T cells were decreased. Conclusion : High SMS expression in LGGs may promote tumor occurrence through cellular proliferation and modulation of immune cell infiltration. These findings suggest the prognostic value of SMS in predicting clinical outcomes for LGG patients.

OBJECTIVE:To explore the efficacy of different exercise regimens to reduce fall risks in older adults.METHODS:PubMed,Embase,Web of Science,The Cochrane Library,WanFang,and CNKI were searched for studies about exercise interventions on fall risk in healthy older adult individuals at the age of 60 years and above.The search timeframe should cover from the inception of each database to July 2023.Quality assessment and risk-of-bias were assessed using the Cochrane risk of bias tool.Meta-analysis,subgroup analysis,sensitivity analysis,and publication bias were conducted using Review Manager 5.3 and Stata 16.0.RESULTS:A total of 45 papers containing 54 studies with 3 074 participants were included in the analysis.Overall,exercise intervention can improve the interventional effects on balance(the unipedal stance test with eyes open,functional reach,Timed"Up & Go",and Berg balance scale),lower limb muscle strength(30-second chair-stand test,Five-Times Sit-To-Stand Test,and Short Physical Performance Battery),and fall-efficacy(Falls Efficacy Scale-International),leading to reduced fall risk(P＜0.05).The Meta-analysis results revealed a dosage effect of different exercise regimens to reduce fall risk in the elderly.Mind-body exercise could efficiently increase scores of the unipedal stance test[mean difference(MD)=6.81,95％confidence interval(CI)(2.17,11.44),P＜0.01];resistance exercise could efficiently increase the scores of the Timed"Up & Go"[MD=-3.12,95％CI(-5.72,-0.52),P＜0.05]and the 30-second chair-stand test[MD=1.22,95％CI(0.37,2.08),P＜0.01];and multicomponent physical activity could efficiently increase the scores of functional reach[MD=4.50,95％CI(2.58,6.42),P＜0.01],Berg Balance Scale[MD=1.05,95％CI(0.39,1.71),P＜0.01],Five-Times Sit-To-stand Test[MD=-3.15,95％CI(-4.80,-1.50),P＜0.01],Short Physical Performance Battery[MD=0.55,95％CI(0.37,0.74),P＜0.01],and Falls Efficacy Scale-International[MD=-0.41,95％CI(0.69,-0.13),P＜0.01].Conclusion:Exercise interventions can effectively improve balance,enhance limb strength and functional ability,and reduce fear of falling,and lower the risk of falls in older adults.The components of different intervention programs(such as type of exercise,duration,frequency,and session length)have varying dose-response relationships with the results of fall risk screening tests in older adults.

Objective To develop a three-compartment kinetic fatigue model for the isometric muscle endurance of the hip,knee,and ankle joints at 50％IPT(isometric peak torque),so as to provide a theoretical basis for simulation-based assessments and load evaluations in biomechanics and sports science.Methods The IPT of the hip,knee,and ankle joints was measured in 40 male university students.Isometric endurance tests were then performed on all three joints at 50％IPT until exhaustion.Electromyography data and endurance time(ET)of major lower limb muscles were collected concurrently.The differences between ETs predicted by models based on previously recommended F and R parameters and actual ETs were analyzed.Subsequently,experimental ETs were used in a grid search to optimize Fand R parameters,allowing for the development of an accurate three-compartment kinetic model.Results The ET of the hip and ankle joints was significantly longer than that of the knee joint(P＜0.001).Models using previously recommended Fand R parameters overestimated ET,with significantly higher predicted values than experimentally measured ET(P＜0.001),as well as elevated root mean squared error(RMSE)and mean relatvie error(MRE)values.The grid search successfully identified Fand R parameters for the three-compartment model in isometric endurance tests of lower limb joints,with no statistical difference between model-predicted ET and experimental ET(P＞0.05).Conclusions The developed model in this study can serve as an indirect measurement tool for evaluating load in similar activities.

Objective:To evaluate the effect of intraoperative optimization of regional cerebral oxygen saturation(rSO 2C) intervention on postoperative delirium(POD) in pediatric patients undergoing cardiac surgery with cardiopulmonary bypass(CPB). Methods:Two hundred and seventy-three pediatric patients of both sexes, aged 28 days-6 yr, with American Society of Anesthesiologists Physical Status classification ≤Ⅳ, scheduled for elective cardiac surgery under CPB, were divided into intervention group( n=136) and control group( n=137) based on the computer random coding. In intervention group, optimized intervention measures were given when rSO 2C was below 75% of the baseline value for more than 1 min. In control group, rSO 2C was not monitored during operation, and intraoperative management was performed according to the routine monitoring indicators of pediatric cardiac surgery under CPB. The occurrence of POD within 7 days after operation was evaluated, and the duration and first occurrence time of POD were recorded. Results:Compared with control group, no significant change was found in the incidence of POD( P>0.05), the first occurrence time of POD was significantly prolonged, and the duration of POD was shortened in intervention group( P<0.05). Conclusions:Intraoperative optimization of rSO 2C intervention can delay the time to the first occurrence of POD and shorten the duration in pediatric patients undergoing cardiac surgery under CPB.

Objective:To evaluate the efficacy of the flipped classroom combined with 3D body anatomy software in the teaching of ultrasound-guided transversus thoracic muscle plane block.Methods:In this randomized controlled trial, 100 second-year resident physicians from the Department of Anesthesiology and Perioperative Medicine at our hospital, male or female, aged 22-26 yr, who rotated during January 2023 to January 2025, were selected and divided into 2 groups ( n=50 each) using a table of random numbers: experimental group and control group. Experimental group employed the teaching model of flipped classroom combined with 3D body anatomy software, while control group used the traditional teaching model. The scores of theoretical assessment, accuracy rate of ultrasound image identification, scores of procedural skills, success rates of clinical procedure, teaching satisfaction, and success rates of clinical translation after 1 month follow-up were compared between two groups. Results:Compared with control group, the scores of theoretical assessment, accuracy rate of ultrasound image identification, scores of procedural skills, success rates of clinical procedure, teaching satisfaction, and success rates of clinical translation after 1 month follow-up were significantly increased in experimental group ( P<0.05). Conclusions:The combination of flipped classroom and 3D body anatomy software is more effective than the traditional teaching methods when used for teaching of ultrasound-guided transversus thoracic muscle plane block.

Objective:To investigate the clinical and genetic characteristics of KDM6B gene variation associated neurological developmental disorder in a child. Methods:Clinical data were collected from a child of KDM6B gene variation associated neurological developmental disorder admitted to Children′s Hospital Affiliated to Zhengzhou University in July 2021. His clinical manifestations and genetic variation profiles were retrospectively analyzed and literature review was conducted. Results:The patient was a one-year-six-month old male, with protruding forehead, joint laxity, distal skeletal abnormalities, and behavioral, cognitive, language, intellectual, and psychomotor development disorder. The whole-exome sequencing and Sanger sequencing confirmed that there was a de novo heterozygous frameshift variation c.1718delC(p.Pro573Hisfs *9) in exon 11 of the KDM6B gene. This variation was classified as pathogenic (PVS1+PS2+PM2_supporting) according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines, with no prior reports. By literature review, no relevant Chinese literature was retrieved, whereas 4 English literatures were found, reporting 98 patients, totally 99 patients (including this case) with nervous system development disorder due to KDM6B gene variation. The main manifestations were neurodevelopmental disorders such as speech, motor, and behavioral abnormalities, mental retardation, as well as facial deformities, hypotonia, infantile feeding difficulties/gastroesophageal reflux, joint/ligament laxity, and abnormalities of the hands and toes/palms. A total of 83 variation sites were found, including 37 frameshift variations, 18 missense variations, 21 nonsense variations, and 7 splicing variations, all of which were heterozygous variations. Conclusions:The KDM6B gene variation can lead to neurodevelopmental disorder, craniofacial developmental and skeletal abnormalities. The de novo heterozygous variation in the KDM6B gene is considered to be the genetic etiology of this child. This study extends the spectrum of KDM6B gene variant.

Objective:To explore the clinical features of a child with Lamb-Shaffer syndrome (LAMSHF) due to a variant of SOX5 gene. Methods:A child who was admitted to Children′s Hospital Affiliated to Zhengzhou University in July 2022 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing (WES) was carried out on peripheral blood samples from the child and his parents, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The study has been approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-100).Results:The child, an one-year-and-seven-month-old male, has manifested delayed development in speech and language, intelligence and movement, in addition with mild facial deformities and eye signs. Whole exome sequencing revealed that he has harbored a heterozygous c. 1828_1829insGACT (p.Y610fs*1) frameshifting variant of the SOX5 gene. Sanger sequencing confirmed the variant to be de novo in origin. The variant was also unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was rated as pathogenic (PVS1+ PS2+ PM2_supporting). Conclusion:The c. 1828_1829insGACT (p.Y610fs*1) variant of the SOX5 gene probably underlay the pathogenesis of LAMSHF in this child. For children with delayed mental, language, intellectual, and motor development, genetic testing should be conducted to facilitate early diagnosis. Above finding has enriched the mutational spectrum of the SOX5 gene.

Objective:To explore the clinical features, genetic characteristics in a child with Miller-McKusick-Malvaux syndrome (3MS) type 1 caused by CUL7 gene variant. Methods:A child diagnosed with 3MS type 1 at the Children′s Hospital Affiliated to Zhengzhou University in February 2021 was selected as the subject of this study. Peripheral blood samples were collected from the child and her parents for genomic DNA extraction. Whole exome sequencing (WES) was performed on the child, and Sanger sequencing was used to validate the candidate variants and analyze their pathogenicity. A literature search was conducted using the keywords "3M syndrome" in the China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, and PubMed databases from inception to December 2024. The clinical data of Chinese children with 3MS reported in the literature were summarized. This study was approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2024-K-020).Results:①The child was a 6-year-old and 2-month-old female with facial dysmorphism, skeletal abnormalities, and growth and developmental delay. ②WES revealed compound heterozygous variants in the CUL7 gene: c. 2686G>T (p.E896*) and c. 1200delT (p.R401Gfs66). Sanger sequencing confirmed that these two variants were inherited from the child′s father and mother, respectively. According to the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines for the Interpretation of Sequence Variants, c. 2686G>T (p.E896) was classified as a pathogenic (PVS1+ PM2_Supporting+ PM3), and c. 1200delT (p.R401Gfs*66) was classified as a likely pathogenic (PVS1+ PM2_Supporting). ③ Based on the literature search strategy, 18 relevant articles were identified, including a total of 32 Chinese cases of 3MS, of which 8 were fetuses. A total of 32 Chinese 3MS cases were included in the literature review, of which 8 were fetuses. The majority of these cases carried variants in the CUL7 gene (20/32, 62.5%) and OBSL1 gene (12/32, 37.5%). The main clinical manifestations included intrauterine or postnatal growth and developmental delay (32/32, 100.0%), triangular facies (27/32, 84.3%), and skeletal abnormalities (21/32, 65.6%). Conclusion:The compound heterozygous variants c.2686G>T (p.E896*) and c. 1200delT (p.R401Gfs*66) in the CUL7 gene are likely the genetic cause of 3MS type 1 in the child. For children presenting with facial dysmorphism, skeletal abnormalities, and intrauterine or postnatal growth and developmental delay, 3MS should be considered as a differential diagnosis.

Objective: : The objective of this study was to assess the relationship between spermine synthase (SMS) expression, tumor occurrence, and prognosis in lower-grade gliomas (LGGs). Methods: : A total of 523 LGG patients and 1152 normal brain tissues were included as controls. Mann-Whitney U test was performed to evaluate SMS expression in the LGG group. Functional annotation analysis was conducted to explore the biological processes associated with high SMS expression. Immune cell infiltration analysis was performed to examine the correlation between SMS expression and immune cell types. The association between SMS expression and clinical and pathological features was assessed using Spearman correlation analysis. In vitro experiments were conducted to investigate the effects of overexpressing or downregulating SMS on cell proliferation, apoptosis, migration, invasion, and key proteins in the protein kinase B (AKT)/epithelialmesenchymal transition signaling pathway. Results: : The study revealed a significant upregulation of SMS expression in LGGs compared to normal brain tissues. High SMS expression was associated with certain clinical and pathological features, including older age, astrocytoma, higher World Health Organization grade, poor disease-specific survival, disease progression, non-1p/19q codeletion, and wild-type isocitrate dehydrogenase. Cox regression analysis identified SMS as a risk factor for overall survival. Bioinformatics analysis showed enrichment of eosinophils, T cells, and macrophages in LGG samples, while proportions of dendritic (DC) cells, plasmacytoid DC (pDC) cells, and CD8+ T cells were decreased. Conclusion : High SMS expression in LGGs may promote tumor occurrence through cellular proliferation and modulation of immune cell infiltration. These findings suggest the prognostic value of SMS in predicting clinical outcomes for LGG patients.