OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

Lung cancer remains one of the leading causes of cancer-related morbidity and mortality worldwide, and its treatment continues to face major challenges such as therapeutic resistance and tumor recurrence. Pyroptosis, a newly characterized form of programmed cell death, induces tumor cell death through gasdermin-mediated membrane pore formation and is accompanied by the release of inflammatory mediators, thereby playing complex roles in lung cancer initiation, progression, and modulation of the tumor microenvironment. Active components and herbal formulas derived from traditional Chinese medicine can modulate pyroptosis-related signaling pathways through multi-target mechanisms, showing potential advantages in inducing lung cancer cell death, inhibiting proliferation and migration, and reversing chemoresistance. This review systematically summarizes relevant studies from domestic and international sources, focusing on the molecular mechanisms of pyroptosis, its roles in lung cancer development and tumor microenvironment remodeling, and the current research progress on traditional Chinese medicine-based interventions targeting pyroptosis, with the aim of providing references for the prevention and treatment of lung cancer using traditional Chinese medicine.

Objective To analyze the changes in myocardial injury markers and cardiac function in patients with hypertrophic obstructive cardiomyopathy (HOCM) after Liwen surgery. Methods A retrospective analysis was conducted on the clinical data of HOCM patients who underwent Liwen surgery at the Department of Cardiac Surgery, Wuhan Asia Heart Hospital from December 2019 to April 2023, mainly including preoperative and postoperative dynamic follow-up laboratory test results and echocardiograms. Results A total of 42 patients were included, with 25 males and 17 females, aged (44.76±17.72) years, and a postoperative follow-up time of (15.02±6.97) months. The myocardial troponin level of the patients decreased from preoperative 0.03 (0.02, 0.06) ng/mL to postoperative 0.02 (0.01, 0.05) ng/mL (P=0.006), and the N-terminal pro-brain natriuretic peptide level decreased from preoperative 748.95 (337.40, 1600.75) ng/L to postoperative 367.15 (126.93, 1030.25) ng/L (P<0.001). After surgery, the left atrial diameter of the patients decreased from preoperative (4.18±0.57) cm to postoperative (3.93±0.55) cm (P=0.004), the end-diastolic interventricular septum thickness decreased from preoperative 2.25 (1.90, 2.75) cm to postoperative 1.70 (1.50, 1.90) cm (P<0.001), the left ventricular mass index decreased from preoperative 211.73 (172.28, 261.54) g/m2 to postoperative 156.78 (132.34, 191.36) g/m2 (P<0.001), the left ventricular weight decreased from preoperative 368.89 (292.34, 477.72) g to postoperative 266.62 (224.57, 326.04) g (P<0.001), the end-diastolic posterior wall thickness of the left ventricle decreased from preoperative 1.30 (1.20, 1.60) cm to postoperative 1.20 (1.18, 1.40) cm (P<0.001), the relative wall thickness decreased from preoperative 0.78 (0.78, 1.02) to postoperative 0.63 (0.56, 0.72) (P<0.001), the end-systolic inner diameter of the left ventricle increased from preoperative (2.91±0.50) cm to postoperative (3.19±0.53) cm (P=0.001), and the end-diastolic inner diameter of the left ventricle increased from preoperative (4.41±0.48) cm to postoperative (4.66±0.52) cm (P=0.005). The left ventricular outflow diameter increased from preoperative (1.28±0.46) cm to postoperative (1.57±0.32) cm (P=0.001), the left ventricular outflow pressure gradient decreased from preoperative 58.50 (40.75, 92.50) mm Hg to postoperative 11.50 (7.75, 20.50) mm Hg (P<0.001), the left ventricular ejection fraction increased from preoperative 60.00% (56.75%, 65.00%) to postoperative 63.00% (62.00%, 66.00%) (P=0.024), and the degree of systolic anterior motion of the mitral valve leaflets decreased (P＜0.001). Conclusion The cardiac function of patients with HOCM is improved after Liwen surgery, myocardial injury marker levels are decreased, cardiac reverse remodeling occurres, and the surgical outcome is good.

Objective:To explore the risk factors of suicidal ideation in bereavement callers of Beijing psy-chological support hotline.Methods:Bereavement callers from 2022-2023 hotline callers who were assessed for grief reactions were included in this study.Callers were assessed for current suicidal ideation by asking them if they had suicidal ideation within two weeks.The general demographic data of bereavement callers were collected,and the distress,hope and suicide risk factors of bereavement callers were assessed by hotline interview.The depression de-gree of bereavement callers was assessed by diagnostic screening scale for depression.Logistic regression analysis was used to explore the risk factors of suicidal ideation.Results:Seventy-seven point two percent(1 028/1 332)of callers reported suicidal ideation.Those who were over 25 years old(OR=0.50),with 10-16 years of education(OR=0.59),with over 16 years of education(OR=0.28),and had a high sense of hope(OR=0.41)were less likely to have suicidal ideation.Those with previous suicide history(OR=2.70),high levels of distress(OR=1.72),and high levels of depression(OR=2.86)were more likely to have suicidal ideation.Conclusion:A history of previous suicide,high levels of distress,and high levels of depression among bereavement callers were risk fac-tors for suicidal ideation.

Objective It investigates the current status of negative defensive medical behavior tendencies among medical students and explores influencing factors,aiming to provide evidence for improving medical students' propensity for negative defensive medical practices.Methods In February 2023,a cluster sampling approach was employed to recruit 297 medical students from a medical college-affiliated hospital in Province H.Descriptive statistics,chi-square tests,and correlation analyses were conducted to assess negative defensive medical behavior tendencies.Structural equation modeling(SEM)was utilized to explore multidimensional influencing factors.Results 45％of medical students demonstrated high-level negative defensive medical behavior tendencies.Statistically significant differences were observed between genders(x2=5.569,P＜0.05)and only-child/non-only-child groups(x2=6.104,P＜0.05).Positive correlations were identified between negative defensive medical behaviors and role stress(r=0.217,P＜0.01),negative organizational environment evaluation(r=0.395,P＜0.01),and negative social environment evaluation(r=0.405,P＜0.01).Only-child status was confirmed as an influencing factor(β=-0.123,P=0.036).Negative organizational environment evaluation(β=0.504,P＜0.001)and negative social environment evaluation(β=0.193,P=0.039)showed significant positive effects.Conclusion Immediate interventions-including role-specific risk allocation,organizational ecosystem reconstruction,and social environment governance-require urgent implementation to address early-stage behavioral deviance,counteract the solidification of defensive medical thinking patterns,and reduce predispositions toward negative professional behaviors among medical trainees.

Small molecules generally refer to natural compounds with a molecular weight less than 1 kD,which have significant research value in many fields such as biological science,pharmaceutical and health care,and environmental science,etc.Aptamers,as a new type of bio-recognition element,can bind specifically to small molecules and other targets with high affinity.They are single-stranded short nu-cleotide sequences selected by the systematic evolution of ligands by exponential enrichment(SELEX)technology.Compared with aptamers of large molecules,aptamers of small molecules often exhibit disad-vantages such as difficult screening,low affinity,and poor specificity.To solve these bottleneck prob-lems,the article provides some strategies of screening and identification of aptamers for small molecules.Firstly,when designing the screening plan for aptamers of small molecules,this article suggests focusing on key points such as library design,SELEX methods,amplification methods,screening process monito-ring methods,and aptamer sequence analysis methods,then choosing or designing appropriate strategies based on the actual situation.Secondly,the structure and affinity of aptamers directly affect their applica-tions.The article briefly introduces methods for analyzing the secondary and tertiary structures of aptam-ers and six common methods for affinity determination.Finally,the article discusses some problems exist-ing in screening and identification of aptamers for small molecules and looks forward to future develop-ment prospects.The whole article aims to provide research strategies for multiple steps of screening and i-dentification of aptamers for small molecules and offer references for improving the efficiency of aptamer screening and identification.

Objective To study the influences of the structural parameters of the pump head flow channel on the energy dissipation of injection pumps and optimize the pump head flow channel structural parameters.Methods Firstly,three structural parameters of the injection pump head flow channel,namely the input chamber diameter,the connecting chamber diameter and the plunger rod chamber diameter,were selected as the experimental factors for orthogonal experimental design,and the total entropy production values of the injection pump head flow channels with different structures were obtained through entropy production analysis;secondly,the effects of the three structural parameters on the total entropy production values were explored with the range method;finally,the Kriging interpolation proxy model analysis and computational fluid dynamics(CFD)numerical analysis of the injection pump head flow channel were carried out to determine the effects of the combinations of the three structural parameters by pairs on the total entropy production values,and the structural parameters of the injection pump head flow channel were optimized with the objective of energy dissipation.Results The minimum total entropy production value was 2 783 970 mW/K,which was 29.8%lower than that in case of the initial structure(3 966 072 mW/K),when the input chamber diameter was 4.8 mm,the connecting chamber diameter was 0.32 mm and the plunger rod chamber diameter was 1.0 mm;the three structural parameters had significant differences in the effects on the total entropy production value,ordered as the plunger rod chamber diameter,the input chamber diameter and the connecting chamber diameter;considering the energy dissipation,the total entropy production value was minimized in case of the minimal input chamber diameter,the maximal connecting chamber diameter and the medium-sized plunger rod chamber diameter.Conclusion The input chamber diameter,the connecting chamber diameter and the plunger rod chamber diameter have differences in the sensitivity to the effects on the energy dissipation of the injection pump head flow channel,and the structural parameters of the head flow path can be optimized accordingly with the goal of minimizing energy dissipation.[Chinese Medical Equipment Journal,2025,46(9):28-32]

Objective To develop and validate an evaluation criteria for the clinical utilization of belimumab and to provide a reference for the rationally clinical use of belimumab.Methods Based on the drug instructions of belimumab,reference for rational clinical guidelines,and expert consensus,the drug utilization evaluation criteria for belimumab were established.A retrospective analysis was conducted to assess the rational use of belimumab in inpatients at a hospital in Yunnan Province from January 2021 to June 2024.Results A total of 1 809 medical records were included,involving 213 patients.The rationality rate of belimumab use was 72.5％,with 1 311 cases fully meeting the evaluation criteria.Non-compliance was primarily attributed to medication frequency(15.0％),dosage(9.8％),medication monitoring(4.3％),and efficacy evaluation(3.3％).Conclusions There is a need to enhance the management of dosage,medication monitoring,and efficacy evaluation to further standardize the rational use of belimumab in clinical practice.The drug utilization evaluation criteria established for belimumab are feasible and provide a reference for guiding its rational clinical application.

Objective To investigate the relationship between the expression of serum solute carrier family member 11 (SLC7A11) and acyl CoA synthase long-chain family member 4 (ACSL4) and the degree of neurological impairment and prognosis in patients with acute cerebral infarction (ACI). Methods 60 ACI patients admitted to the Department of Neurology,Suzhou Jiulong Hospital,School of Medicine,Shanghai Jiaotong University from October 2019 to December 2022 were selected as the ACI group,and 60 healthy people in the same period were taken as a control group. Serum SLC7A11 and ACSL4 levels were detected by enzyme-linked immunosorbent assay(ELISA). According to the degree of neurological impairment[assessed by the National Institutes of Health Stroke Scale (NIHSS)],60 patients with ACI were divided into a mild group(n=41) and a severe group (n=19). According to the prognosis of patients 3 months after discharge[assessed by the modified Rankin scale (mRS) score],60 patients with ACI were divided into good group(n=47) and bad group(n=13),and the serum SLC7A11 and ACSL4 levels of ACI patients in different groups were compared. Pearson correlation was used to analyze the correlation between serum SLC7A11 and ACSL4 levels and the degree of neurological impairment and prognosis,and receiver operating characteristic(ROC) curve was used to analyze the value of serum SLC7A11 and ACSL4 levels in predicting poor prognosis of ACI patients.Results The serum SLC7A11 (16.88±3.19ng/ml)level in ACI group was lower than that in the control group(25.13±5.61ng/ml),and the ACSL4(40.01±4.23ng/ml)level was higher than that in the control group(23.29±5.72ng/ml),with statistical significance (t=9.902,18.205,all P<0.05).Serum SLC7A11(15.16±3.91ng/ml)level in ACI patients in the severe group was lower than that in the mild group(17.68±2.41ng/ml),and ACSL4 (42.08±5.02ng/ml) level was higher than that in a mild group(39.05±3.40ng/ml),the serum SLC7A11(14.25±2.95 ng/ml)level of ACI patients in the bad group was lower than that in the good group(17.61±2.85 ng/ml),and the ACSL4 (43.54±3.87 ng/ml)level was higher than that in the good group(39.03±3.78 ng/ml),and the differences were statistical significance (t=3.070,2.747;3.735,3.789,all P<0.05). Pearson correlation analysis showed that serum SLC7A11 level was negatively correlated with NISS and mRS scores of ACI patients (r=-0.416,-0.378,all P<0.05). The serum ACSL4 level was positively correlated with NISS and mRS scores (r=0.351,0.415,all P<0.05). The AUC (95％ CI) of serum SLC7A11 and ACSL4 in predicting the poor prognosis of ACI patients was 0.810 (0.688～0.900),and the sensitivity and specificity were 68.09％ and 92.31％,respectively,which were better than those of individual detection (Z=2.176,1.977,P=0.030,0.048). Conclusion The combination of serum SLC7A11 and ACSL4 has a high predictive efficiency for the poor prognosis of ACI patients.

The development of breast cancer is closely related to the information transfer in its microenvironment.As a novel information communication tool,exosomes present non-coding RNAs that are involved in breast cancer cell proliferation,migration,invasion,tumour-associated fibroblasts ogenesis,cell cycle,degradation of oncogenes,etc.This paper reviews the relationship between exosomes and the tumour microenvironment and the role of their presenting non-coding RNAs on breast cancer as well as their clinical applications in order to provide new ideas for biological research and therapeutic strategies.