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

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 investigate the effect of the small molecule inhibitor C42 of kallikrein-related peptidase 7(KLK7)on ovarian cancer with elevated expression of KLK7 and evaluate the feasibility of C42 as a new therapeutic strategy for ovarian cancer.Methods The CCK-8 assay,flow cytometry,cell scratch assay,Transwell assay,and Western blotting were employed to assess the effects of C42 on the proliferation,migration,and invasion of the ovarian cancer cell line SKOV3,which was characterized by high KLK7 expression.Additionally,a subcutaneous xenograft model of ovarian cancer was established with SKOV3 cells in nude mice to evaluate the effects of C42 on the tumor growth and metastasis.The expression levels of proteins associated with tumor metastasis and invasion in the tumor tissue were examined by immunohistochemical techniques.Results The cellular experiment showed that C42 suppressed the proliferation,migration,and invasion(all P<0.001)of SKOV3 cells,compared with the control group.The animal experiment showed that compared with the control group,the 10.2 mg/kg C42 group exhibited a decreased tumor weight(P=0.009) and attenuated liver metastases.Immunohistochemical staining revealed that the 10.2 mg/kg C42 group demonstrated down-regulated expression of the tumor proliferation marker Ki-67(P=0.002)and the tumor metastasis and invasion-associated proteins such as matrix metalloproteinase-9(P=0.027)and Vimentin(P=0.039).Conclusion The small molecule inhibitor C42 of KLK7 effectively suppresses the proliferation,migration,and invasion of ovarian cancer SKOV3 cells.
Female ; Humans ; Ovarian Neoplasms/drug therapy* ; Kallikreins/antagonists & inhibitors* ; Animals ; Mice, Nude ; Cell Line, Tumor ; Cell Proliferation/drug effects* ; Mice ; Cell Movement/drug effects* ; Xenograft Model Antitumor Assays ; Mice, Inbred BALB C

OBJECTIVE: To explore the improvement effect of rehabilitation nursing based on information-knowledge-belief-behavior (IKAP) theory on urinary incontinence patients after radical prostatectomy. METHODS Sixty-six patients with urinary incontinence who received robot-assisted laparoscopic radical prostatectomy in General Hospital of Eastern Theater Command from January 2021 to January 2023 were selected and divided into control group (n=33) and observation group (n=33) according to random number table method. The patients in the control group were treated with rehabilitation nursing. The patients in the observation group were treated with rehabilitation nursing guided by IKAP theory. The recovery of urinary incontinence, duration of urinary incontinence, subjective well-being, quality of life, psychological and emotional indexes of patients in the two groups were compared. Results： The total effective rate of urinary incontinence recovery in the observation group was significantly higher than that in the control group (90.91% vs 60.61%，P<0.05). The duration of urinary incontinence in the observation group was significantly shorter than that in the control group (［3.36±1.54］d vs ［4.15±1.36］d，P<0.05). And the subjective well-being score in observation group was significantly higher than that in the control group (［19.36±2.69］points vs ［11.65±2.65］points， P<0.05). There was no significant difference in preoperative physical function, social function，and mental health scores between the two groups (P>0.05). And all scores in the observation group were significantly higher than those in the control group after surgery (P<0.05). There was no significant difference in the preoperative SAS and SDS scores between the two groups of patients (P>0.05). And the scores of SAS and SDS in observation group were lower than those of the control group after the operation (P<0.05). Conclusion： Rehabilitation nursing based on IKAP theory can significantly improve urinary incontinence in patients with prostate cancer after surgery, which promotes the recovery of urinary incontinence, shortens the time of urinary incontinence, and improves the subjective well-being and quality of life, as well as reduces the negative impact of negative emotions. Therefore, it can be widely promoted and implemented in clinical practice.
Humans ; Prostatectomy/adverse effects* ; Urinary Incontinence/etiology* ; Male ; Quality of Life ; Rehabilitation Nursing ; Middle Aged ; Aged

Neonatal sepsis is a global health problem that seriously affects the body health and life safety of newborns. It has a higher incidence in preterm infants,especially for early-onset sepsis (EOS) within 72 hours of birth. The diagnosis of neonatal EOS requires a series of examinations,and early and accurate diagnosis can improve clinical outcomes and reduce antibiotic overuse in a timely manner. At present,the commonly used biomarkers and traditional blood culture methods for EOS diagnosis have certain shortcomings,so it is urgent to find new molecular diagnostic methods. This article summarizes and compares the early and novel diagnostic methods of neonatal EOS,in order to provide a reference for clinical practice.

Objective:To explore the application effect of 3D technology-assisted teaching based on "four-in-one" flipped classroom in clinical teaching of neurosurgery, and provide a basis for optimizing the medical education mode.Methods:A total of 50 students from the Second Clinical College were selected between June 2020 and June 2024, including eight-year program medical students and postgraduate neurosurgery students. The control group ( n=25) received the conventional teaching mode. The experimental group ( n=25) was taught using the "four-in-one" flipped classroom combined with 3D technology, including characteristic textbooks with 3D model drawings, Internet platforms (video libraries and virtual simulation modules), mobile interactive terminals (real-time question and answer), and virtual simulation technology. Effectiveness was evaluated through theoretical assessment (e.g., neuroanatomy and clinical application ability, with a total score of 100 points), operational assessment (e.g., surgical design and aseptic concept, with a total score of 100 points), and a teaching quality questionnaire. Independent samples t-test was conducted using SPSS 22.0. Results:The total score of theoretical assessment was higher in the experimental group than that in the control group [(86.52±5.21) vs. (73.56±6.32), P<0.001], with the largest difference observed in case analysis questions [(26.03±3.65) vs. (22.22±3.50), P=0.001]. In the operational assessment, the experimental group performed better in "surgical process design" [(26.30±4.14) vs. (21.44±3.45), P<0.001] and "aseptic concept" [(8.18±0.98) vs. (6.64±0.79), P<0.001]. The teaching quality questionnaire showed that the experimental group scored higher in "clinical practice skill enhancement" [(23.13±1.39) vs. (21.45±1.86), P=0.001] and "self-directed learning motivation" [(21.84±1.60) vs. (19.75±1.45), P<0.001]. Conclusions:The combination of "four-in-one" flipped classroom and 3D technology can significantly improve the teaching effectiveness of neurosurgery, especially in the cultivation of clinical thinking and practical abilities. This approach is worth promoting.

Objective:To explore the application effect of 3D technology-assisted teaching based on "four-in-one" flipped classroom in clinical teaching of neurosurgery, and provide a basis for optimizing the medical education mode.Methods:A total of 50 students from the Second Clinical College were selected between June 2020 and June 2024, including eight-year program medical students and postgraduate neurosurgery students. The control group ( n=25) received the conventional teaching mode. The experimental group ( n=25) was taught using the "four-in-one" flipped classroom combined with 3D technology, including characteristic textbooks with 3D model drawings, Internet platforms (video libraries and virtual simulation modules), mobile interactive terminals (real-time question and answer), and virtual simulation technology. Effectiveness was evaluated through theoretical assessment (e.g., neuroanatomy and clinical application ability, with a total score of 100 points), operational assessment (e.g., surgical design and aseptic concept, with a total score of 100 points), and a teaching quality questionnaire. Independent samples t-test was conducted using SPSS 22.0. Results:The total score of theoretical assessment was higher in the experimental group than that in the control group [(86.52±5.21) vs. (73.56±6.32), P<0.001], with the largest difference observed in case analysis questions [(26.03±3.65) vs. (22.22±3.50), P=0.001]. In the operational assessment, the experimental group performed better in "surgical process design" [(26.30±4.14) vs. (21.44±3.45), P<0.001] and "aseptic concept" [(8.18±0.98) vs. (6.64±0.79), P<0.001]. The teaching quality questionnaire showed that the experimental group scored higher in "clinical practice skill enhancement" [(23.13±1.39) vs. (21.45±1.86), P=0.001] and "self-directed learning motivation" [(21.84±1.60) vs. (19.75±1.45), P<0.001]. Conclusions:The combination of "four-in-one" flipped classroom and 3D technology can significantly improve the teaching effectiveness of neurosurgery, especially in the cultivation of clinical thinking and practical abilities. This approach is worth promoting.

Neonatal sepsis is a global health problem that seriously affects the body health and life safety of newborns. It has a higher incidence in preterm infants,especially for early-onset sepsis (EOS) within 72 hours of birth. The diagnosis of neonatal EOS requires a series of examinations,and early and accurate diagnosis can improve clinical outcomes and reduce antibiotic overuse in a timely manner. At present,the commonly used biomarkers and traditional blood culture methods for EOS diagnosis have certain shortcomings,so it is urgent to find new molecular diagnostic methods. This article summarizes and compares the early and novel diagnostic methods of neonatal EOS,in order to provide a reference for clinical practice.

Objective:To evaluate the efficiency of the four domestic language models,ERNIE Bot,ChatGLM2,Spark Desk and Qwen-14B-Chat,all with a massive user base and significant social attention,in response to consultations about PCa-related perio-perative nursing and health education.Methods:We designed a questionnaire that includes 15 questions commonly concerned by patients undergoing radical prostatectomy and 2 common nursing cases,and inputted the questions into each of the four language models for simulation consultation.Three nursing experts assessed the model responses based on a pre-designed Likert 5-point scale in terms of accuracy,comprehensiveness,understandability,humanistic care,and case analysis.We evaluated and compared the performance of the four models using visualization tools and statistical analyses.Results:All the models generated high-quality texts with no mis-leading information and exhibited satisfactory performance.Qwen-14B-Chat scored the highest in all aspects and showed relatively sta-ble outputs in multiple tests compared with ChatGLM2.Spark Desk performed well in terms of understandability but lacked comprehen-siveness and humanistic care.Both Qwen-14B-Chat and ChatGLM2 demonstrated excellent performance in case analysis.The overall performance of ERNIE Bot was slightly inferior.All things considered,Qwen-14B-Chat was superior to the other three models in con-sultations about PCa-related perioperative nursing and health education.Conclusion:In PCa-related perioperative nursing,large language models represented by Qwen-14B-Chat are expected to become powerful auxiliary tools to provide patients with more medical expertise and information support,so as to improve the patient compliance and the quality of clinical treatment and nursing.

Objective To explore the value of magnetic resonance relaxation time quantitative imaging in predicting molecular subtypes of invasive ductal carcinoma(IDC)of breast.Methods A total of 79 IDC patients underwent routine magnetic resonance imaging(MRI)scanning and relaxation time quantitative imaging.According to immunohistochemical results of lesions,patients were divided into different immunohistochemical index groups and molecular subtype groups.The differences in MRI signs,T1 values and T2 values of lesions were statistically compared between each group.Patient operating characteristic(ROC)curve was used to evaluate values of T1 and T2 alone and the combination of them in differential diagnosis of IDC molecular subtypes.Results There were 82 samples of lesion in 79 patients,in which,Luminal A type 16(19.51%),Luminal B1 type 11(13.41%),Luminal B2 type 27(32.93%),tyrosine kinase receptor-2 overexpression type(Erb-B2)14(17.07%)and TNBC 14(17.07%).There were no significant differences in patient age,lesion distribution,maximum diameter,morphology,margin and enhancement performance between patients with various molecular subtypes(P>0.05).Among the immunohistochemical indexes,only the Ki-67 positive group had higher T1 value than the negative group(P<0.05).In ROC analysis,the critical T1 value of Ki-67 positive lesions was 2 145 ms,Yoden index was 0.368,the sensitivity was 53.47%,the specificity was 83.33%and the area under the curve(AUC)was 0.640(95%CI:0.527-0.744).There were no significant differences in T1 and T2 values between Luminal A,Luminal B1,Luminal B2,Erb-B2 enriched and TNBC subtypes(P<0.05).T1 and T2 values were lower in Luminal type lesion than those of TNBC type lesion(P＜0.05).ROC curve analysis showed that the combined T1 and T2 values were more effective in differentiating Luminal/TNBC type than those of T1 and T2 values alone.Conclusion T1 mapping can be used as one of the methods to predict the high or low expression levels of Ki-67 in IDC tumors.The combination of T1 and T2 values can improve the ability to predict Luminal/TNBC subtypes.