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: This study examines utilizes the advantages of machine learning algorithms to discern key determinants in prognosticate postoperative circulatory complications (PCCs) for older patients. METHODS: This secondary analysis of data from a randomized controlled trial involved 1,720 elderly participants in five tertiary hospitals in Beijing, China. Participants aged 60-90 years undergoing major non-cardiac surgery under general anesthesia. The primary outcome metric of the study was the occurrence of PCCs, according to the European Society of Cardiology and the European Society of Anaesthesiology diagnostic criteria. The analysis metrics contained 67 candidate variables, including baseline characteristics, laboratory tests, and scale assessments. RESULTS: Our feature selection process identified key variables that significantly impact patient outcomes, including the duration of ICU stay, surgery, and anesthesia; APACHE-II score; intraoperative average heart rate and blood loss; cumulative opioid use during surgery; patient age; VAS-Move-Median score on the 1st to 3rd day; Charlson comorbidity score; volumes of intraoperative plasma, crystalloid, and colloid fluids; cumulative red blood cell transfusion during surgery; and endotracheal intubation duration. Notably, our Random Forest model demonstrated exceptional performance with an accuracy of 0.9872. CONCLUSION We have developed and validated an algorithm for predicting PCCs in elderly patients by identifying key risk factors.
Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Middle Aged ; Cardiovascular Diseases/etiology* ; Machine Learning ; Postoperative Complications/etiology* ; Risk Factors ; Randomized Controlled Trials as Topic ; Secondary Data Analysis

Objective:To discuss the optimal doping concentration of vanadium(V)and silicon(Si)co-doped TiO? coating(V-Si TiO?)formed on titanium surface by electrochemical treatment,to evaluate its antibacterial effect under visible light irradiation,and to clarify its visible light response mechanism.Methods:The medical pure titanium sheets were subjected to micro-arc oxidation followed by high-temperature calcination,and V-Si TiO2 coatings with different doping concentrations were prepared by adjusting the ratio of V to Si in the electrolyte.The experiment was divided into 1V:10Si(V5Si50)group,2V:10Si(V10Si50)group,and 3V:10Si(V15Si50)group;control group was set up(contains only bacterial culture medium).The optimal doping concentration was screened based on comprehensive evaluation of surface morphology,ion release,photocatalytic ability,and biocompatibility;cell counting kit-8(CCK-8)method was used to detect the proliferation activities and the survival rates of the cells in various group.Subsequently,the optimized coating was characterized and compared by scanning electron microscope(SEM),atomic force microscopy(AFM),digital eddy current coating thickness gauge,X-ray diffraction(XRD),X-ray photoelectron spectroscope(XPS),and ultraviolet-visible absorption spectroscopy(UV-vis).The experiment was divided into PT group(blank control),PEO group(no element doping),V10 group(V doping),Si50 group(Si doping),and V10Si50 group(2V:10Si).The ability of the coating materials to degrade methylene blue(MB)and generation of reactive oxygen species(ROS)under visible light were detected.For antibacterial experiments,Staphylococcus aureus(S.aureus)and Escherichia coli(E.coli)were used.The colony counts on plates in various groups were recorded after visible light irradiation for 2 h and dark treatment for 2 h,respectively.The ROS levels were detected using 2',7'-dichlorofluorescein diacetate(DCFH-DA)ROS probe.ROS scavenging experiment was performed using the optimal doping concentration V10Si50 group,and the two kinds of bacteria were divided into blank control group,N-acetylcysteine(NAC)group,V10Si50 group,and NAC+V10Si50 group.The colony counts on plates in various groups were recorded after visible light irradiation for 2 h.Results:The V concentration of 0.01 mol·L?1 and Si concentration of 0.05 mol·L?1 in the electrolyte solution were the optimal doping concentrations for the V-Si TiO? coating.The SEM observation results showed that compared with V5Si50 group and V15Si50 group,the surface pore size of the coating material in V10Si50 group was significantly decreased(P<0.05),and the coating thickness was significantly increased(P<0.05);its crystal structure was mainly anatase type,and the MB degradation rate of the coating material in V10Si50 group after 9 h of visible light catalysis was significantly increased(P<0.05).Compared with control group,the cell proliferation activity and cell survival rate in V10Si50 group were significantly increased at 1,2,and 4 d of cell culture(P<0.05);at 2 and 4 d of cell culture,the cell proliferation activity and cell survival rate in V5Si50 group and V15Si50 group were significantly decreased(P<0.05).Compared with PT,PEO,and Si50 groups,the colony counts of two kinds of the bacteria in V10 group and V10Si50 group after visible light irradiation for 2 h were significantly decreased(P<0.05).Compared with PT group and PEO group,the ROS levels in two kinds of the bacteria in V10Si50 group after 2 h of irradiation were significantly increased(P<0.05).Compared with V10Si50 group,the colony counts of two kinds of the bacteria in NAC+V10Si50 group were significantly increased(P<0.05).Conclusion:A reasonably loaded V-Si TiO? coating material(V10Si50)was screened out,which maintained good biological activity and significantly enhanced the antibacterial effect under visible light irradiation.

BACKGROUND:The prognosis of patients undergoing percutaneous transforaminal endoscopic discectomy is poor,which is related to the lack of functional physical exercise.Conventional rehabilitation methods have limited efficacy,mainly because the rehabilitation methods are relatively single and lack specificity.Therefore,it is necessary to improve the overall functional physical exercise method.OBJECTIVE:To explore the effect of overall functional physical exercise on lumbar biomechanics in patients with lumbar disc herniation who underwent percutaneous transforaminal endoscopic discectomy.METHODS:120 patients who met the percutaneous intervertebral foramen discectomy indication and underwent percutaneous intervertebral foramen discectomy operation in Henan Provincial People's Hospital from April 2021 to September 2022 were selected as study subjects.They were randomly divided into traditional rehabilitation group and overall functional physical exercise group.Patients in the two groups received 8 weeks of traditional rehabilitation and overall functional physical exercise respectively.Before the exercise intervention and after 8 weeks of intervention,the lsoMed2000 isokinetic muscle strength testing system was used to conduct isokinetic muscle strength testing.The Oswestry Disability Index was used to evaluate lumbar spine function.The visual analog scale was used to evaluate the pain level.The anxiety self-rating scale and depression self-report scale were used to assess symptoms of anxiety and depression.After 8 weeks of exercise intervention,the modified Macnab efficacy evaluation standard was used to evaluate the efficacy.RESULTS AND CONCLUSION:(1)Compared with the traditional rehabilitation group,the peak torque and average power of flexion and extensor in the whole functional physical exercise group increased,the peak torque ratio of flexion and extension decreased,Oswestry disability index score,visual analog scale score,self-rating anxiety scale score and self-rating depression scale score decreased,and the excellent and good rate increased 8 weeks after treatment(P＜0.001).(2)It is concluded that compared with the traditional rehabilitation program,overall functional physical exercise after percutaneous intervertebral foramen discectomy in patients with lumbar disc herniation can effectively enhance lumbar biomechanics and function,relieve pain,reduce postoperative bad mood,and improve prognosis,which has high clinical value.

Objective:To construct a thyroid nodule segmentation model using ultrasound dynamic images and explore its potential for assisting in the screening of thyroid nodules.Methods:A total of 126 patients with thyroid nodules（comprising 150 nodules）who were diagnosed and treated at Xuzhou Cancer Hospital from April 2024 to December 2024 were prospectively enrolled. Two-dimensional ultrasound was performed to capture short-axis and long-axis video images of thyroid nodules，forming a dynamic ultrasound image dataset. The dataset was divided into training，validation，and test sets in a ratio of 6∶1∶3. After the training loss curve converged，the model that performed well on the validation set was selected for testing. Three-fold cross-validation was employed for training and testing. All 300 ultrasound videos were divided into three subsets. In each experiment，two subsets were used as the training set，and one subset was used as the test set to evaluate the model's generalization ability. A collaborative spatiotemporal diffusion model was established based on the dynamic trends and tissue texture details of thyroid nodules. Six widely used segmentation metrics were employed to evaluate the model's application capabilities.Results:The study included 126 patients with 150 thyroid nodules，300 dynamic ultrasound images，and video lengths of 3-4 seconds per nodule，resulting in 12 312 segmented images. The size of the thyroid nodules was（10.7 ± 10.6）mm（transverse diameter）×（8.4 ± 6.3）mm（anteroposterior diameter）. Among the nodules，62（41.3%）had clear boundaries，while 88（58.7%）had indistinct boundaries；61（40.7%）exhibited regular shapes，while 89（59.3%）were irregular；66（44.0%）had a taller-than-wide aspect ratio；and 70（46.7%）showed microcalcifications. The collaborative diffusion model based on dynamic ultrasound image segmentation achieved the following scores：a Jaccard score of（69.22 ± 0.03）%，a Dice score of（79.16 ± 0.18）%，a Precision score of（86.70 ± 0.17）%，a Recall score of（77.82 ± 0.04）%，an Sα score of（85.26 ± 0.01）%，and an Eθmn score of（90.58 ± 0.17）%. Compared to other models，this model demonstrated significant improvements across all evaluation metrics，achieving the highest values in each metric with increments of over 8% and 1%，respectively. Conclusions:The collaborative diffusion model with a dynamic controller，constructed based on dynamic ultrasound images of thyroid nodules，demonstrates excellent performance in ultrasound image segmentation. It improves the accuracy of thyroid nodule screening，thereby providing a valuable auxiliary diagnostic tool for clinical practice.

Objective:To propose a deep learning（DL）-based ultrasound imaging auxiliary tool for automatic segmentation and recognition of the brachial plexus（BP），and to enhance the accuracy and safety of clinical procedures.Methods:It was a multicenter study that collected 773 healthy subjects from Peking University Third Hospital and its branch campuses，the Third Medical Center of the Chinese PLA General Hospital，and Shanghai Eighth People's Hospital between August 2024 and February 2025. Brachial plexus（BP）images in the interscalene groove were captured used high-frequency ultrasound by senior sonographers，a dataset comprising 1 289 standardized images were constructed and the improved model（CHA-TransUNet）was trained. The test set was input into 6 different models（CHA-TransUNet，R50-Unet，TransUnet，SegFormer，SwinUnet，MISSFormer）for segmentation. Segmentation accuracy was evaluated using metrics including the Dice similarity coefficient（DSC），95% Hausdorff distance（HD95）and mean intersection over union（mIoU），and was compared with the segmentation results of 3 ultrasound physicians with varying experience levels（junior physicians and senior physicians）to validate the model's segmentation efficacy.Results:The CHA-TransUNet model established based on a dataset of 1 289 standardized images achieved segmentation results for the BP with a DSC of 90.15%，mIoU of 91.02%，and HD95 of 8.08. Its accuracy was higher than other mainstream models（DSC：90.15% vs. 87.60%，87.77%，81.35%，84.78%，84.55%），significantly better than junior physicians（DSC：90.15% vs. 68.73%， Z=-127.76， P<0.001），and approached the level of senior physician（DSC：90.15% vs. 86.15%， Z=-31.33， P=0.549）. The model demonstrated superior boundary recognition in complex anatomical structures（e.g.，C6/C7 nerve roots）compared to ultrasound physicians（junior and senior）（HD95：8.08 vs. 26.34，17.44，56.80）. Conclusions:This study proposes an analysis model for BP ultrasound images，CHA-TransUNet. This model achieves segmentation and recognition of the BP with relatively complex pathways and structures. The model exhibits high accuracy and stability，outperforming current mainstream network models and junior physicians while approaching the performance level of senior physicians. It assists junior physicians or trainees in more accurately identifying and localizing the BP.

Objective:To analyze the occurrence and relevant factors associated with non-curative resection following endoscopic submucosal dissection(ESD)in elderly patients with early gastric cancer(EGC), as well as to establish a predictive model.Methods:Elderly patients diagnosed with EGC and treated at the First Affiliated Hospital of Hebei North University between January 2019 and January 2023 were retrospectively selected for this study.All patients underwent ESD surgery and were categorized based on the occurrence of non-curative resection( n=44)versus curative resection( n=284).Relevant factors contributing to non-curative resection after ESD surgery in elderly EGC patients were analyzed using both univariate and multivariate analyses.A predictive model was developed, and the receiver operating characteristic(ROC)curve was generated to assess its efficacy. Results:In this study, we analyzed a cohort of 328 elderly patients diagnosed with EGC, aged between 60 and 88 years, with a mean age of 70.87±2.67 years, of which 211 were male.Non-curative resection was performed in 44 cases, accounting for 13.41% of the cohort.Compared to the curative group, the non-curative group exhibited a significantly larger lesion diameter, greater infiltration depth into the submucosa, a lower degree of differentiation, a higher prevalence of undifferentiated types, and an increased fold interruption ratio(all P<0.05).Multivariate logistic regression analysis identified increased lesion diameter( OR=2.380, 95% CI: 1.361-4.160), invasion depth into the submucosa( OR=1.824, 95% CI: 1.120-2.971), undifferentiated degree( OR=1.960, 95% CI: 1.286-2.987), and fold interruption( OR=2.094, 95% CI: 1.384-3.166)as significant predictors of non-curable resection following ESD in elderly patients with EGC(all P<0.05).These factors were incorporated into a predictive model represented by the equation: logit( P)=-6.307+ (lesion diameter × 0.867)+ (infiltration depth into submucosa × 0.601)+ (undifferentiated degree × 0.673)+ (fold interruption × 0.739).The ROC curve analysis yielded an area under the curve(AUC)of 0.859, with diagnostic sensitivity and specificity of 84.09% and 74.65%, respectively. Conclusions:There are numerous relevant factors influencing non-curable resection following ESD surgery in elderly patients with EGC.The prediction model developed herein can serve as a foundation for identifying high-risk patients and formulating effective clinical intervention strategies.

Objective To explore the application effect of the dual-track nursing intervention model in the treatment process of children with lobar pneumonia.Methods A total of 186 children with lobar pneumonia were selected and randomly divided into control group and intervention group u-sing a double-blind method,with 93 cases in each group.The control group received conventional nursing intervention,while the intervention group implemented the dual-track nursing intervention model on the basis of conventional nursing.This model included the establishment and training of nurs-ing teams,personalized nursing plans,health education,and psychological support.Outside the hos-pital,it emphasized family support,regular follow-up guidance,and community-based collaborative ed-ucation.Both groups received a 3-week intervention.The improvement times of clinical symptoms,hos-pital stay,pulmonary function indicators before and after nursing,treatment compliance,and family members' satisfaction with nursing were compared and analyzed between the two groups.Results The fever resolution time[(3.89±0.96)d],cough relief time[(6.21±1.34)d],disappearance time of pulmonary rales[(7.89±1.56)d],and hospital stay duration[(9.45±1.89)d]in the intervention group were all shorter than those in the control group[(5.23±1.14),(7.45±1.67),(9.32±2.01),and(11.28±2.35)d,respectively],with statistically significant differences(P＜0.05).After nursing,the forced expiratory volume in one second(FEV1)[(1.51±0.22)L],forced vital capacity(FVC)[(1.75±0.25)L],and FEV1/FVC[(94.12±5.65)％]in the intervention group were all higher than those in the control group[(1.42±0.15)L,(1.66±0.22)L,and(85.73±8.41)％,respectively],with statistically significant differences(P＜0.05).The scores for exami-nation cooperation[(23.91±3.82)points],nursing cooperation[(24.19±4.03)points],standardized medication use[(24.26±3.94)points],and rational diet[(23.77±3.62)points]in the intervention group were higher than those in the control group[(20.16±3.53),(19.64±3.46),(23.05±3.68),and(18.85±3.41)points,respectively],with statistically significant differences(P＜0.05).The satisfaction rate of family members with nursing work in the intervention group was higher than that in the control group,with a statistically significant difference(98.92％versus 89.25％,P＜0.05).Conclusion The dual-track nursing intervention model has a signifi-cant application effect in children with lobar pneumonia.It can accelerate their recovery process,improve treatment compliance,promote pulmonary function improvement,and enhance family mem-bers' satisfaction.

Objective To explore the biological functions of pyroptosis-related genes in pneumonic plague using bioinformatics methods,and to evaluate their potential applicability as diagnostic markers.Methods The pneumonic plague-related dataset GSE220123 was retrieved from the Gene Expression Omnibus(GEO)database and screened for differentially expressed pyroptosis-related genes(DE-PRGs).The functions of DE-PRGs were studied via Gene Ontology(GO),Kyoto Encyclopedia of Genes and Genomes(KEGG)enrichment analyses,and immune infiltration analysis.The hub genes were identified via protein-protein interaction(PPI)network analysis,and further screened for key genes with sustained high expression characteristics based on differential expression analysis.The relative expression levels of the key genes were verified using the reverse transcription real-time quantitative PCR(qPCR)method.Results A total of 17 DE-PRGs were screened,and PPI network analysis revealed 7 Hub genes.Among them,Casp4 continued to be up-regulated during the course of pneumonic plague.The results of reverse transcription qPCR were consistent with the those of bioinformatic analyses.Conclusion DE-PRGs play a crucial role in the immune response of pneumonic plague,especially Casp4,which has significant applications as a diagnostic biomarker and potential therapeutic target for pneumonic plague.