OBJECTIVE: Chromosome conformation-based karyotype analysis (C-MoKa) technology was used to test a couple who had experienced multiple adverse pregnancies in order to provide them with genetic counseling and reproductive guidance. METHODS: A couple presented at the Reproductive Medicine Center of the First Hospital of Lanzhou University in 2023 was selected as the study subject. Through C-MoKa testing, copy number variation sequencing (CNV-seq), and preimplantation genetic testing for aneuploidy (PGT-A), it was found that the couple's repeatedly miscarried fetuses and abnormal embryos exhibited highly similar chromosomal structural abnormalities. Using C-MoKa, the potential genetic abnormalities in both partners were traced, and reproductive guidance was provided based on the result. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: LDYYSZLLKH2025-09). RESULTS: CNV-seq analysis of the couple's miscarriage fetal chorionic villi showed del(18)(q21.2q23)(28.90 Mb) and dup(13)(q31.2q34)(26.26 Mb). Chromosomal karyotyping analysis of both partners showed no abnormality. From 2024 to 2025, the couple underwent three rounds of PGT-A assisted reproduction. The first embryo test showed del(13)(q31.2q34)(26.77 Mb) and dup(18)(q21.2q23)(29.08 Mb). The second embryo test showed dup(13)(q31.2q34)(26.26 Mb) and del(18)(q21.2q23)(28.90 Mb). And the third embryo test results showed complex chromosomal abnormalities. In 2025, after genetic counseling, the couple had opted C-MoKa test, which has detected no abnormality in the wife, but a balanced 46,XY,t(13;18)(q31.2;q21.2) translocation in the husband. CONCLUSION As a high-throughput sequencing method based on the three-dimensional conformation of chromatin, C-MoKa has the advantages of high resolution and high accuracy, and can accurately detect balanced translocations with similar banding patterns. It has therefore offered a powerful new tool for chromosomal analysis.
Female ; Humans ; Male ; Pregnancy ; Abortion, Habitual/genetics* ; DNA Copy Number Variations ; Karyotyping/methods* ; Preimplantation Diagnosis ; Translocation, Genetic

Background Workers in the cable manufacturing industry are exposed to high-speed machinery and equipment for a long time, coupled with heavy workload, which poses significant risks to their physical health. However, the issue of occupational injuries in this industry has not received enough attention yet. Objective To understand the incidence of occupational injury of workers in cable manufacturing industry and to analyze the influencing factors. Method A basic information questionnaire and an occupational injury questionnaire were developed to investigate the occupational injuries of 1 343 workers in a cable manufacturing enterprise in the past year, and a total of 1 225 valid questionnaires were recovered, with an effective rate of 91.2%. Descriptive statistics were used to characterize the causes, injury locations, injury types, and other characteristics of employees’ occupational injuries. Chi-square test was used to analyze the occupational injury status of groups with different demographic characteristics, occupational characteristics, lifestyles, and interpersonal relationships. Logistic regression was used to analyze the influencing factors of occupational injuries. Result The incidence of occupational injuries among workers in a cable manufacturing enterprise in the past year was 8.6%, which mainly happened in male workers (80.0%) and occurred from May to July in summer (45.7%). The main causes were mechanical injuries (32.4%) and object blows (27.6%). The main sources of damage were machinery and equipment (36.2%) as well as raw materials and products (15.2%). The main injuries were located in upper limbs (53.3%) and lower limbs (22.9%). The main types of injuries were fractures (33.3%) and abrasions/contusions/puncture wounds (19.0%). The results of univariate analysis showed that there were statistically significant variations in the incidence of occupational injuries by gender, overtime, pre-job training, years of service in current position, alcohol consumption, physical exercise per week, and co-worker relationship (P<0.05). The logistic regression model showed that workers who exercised less than twice a week, did not participate in pre-job training, worked overtime, and had fair/poor/very poor colleague relationship had a higher risk of occupational injury, while women had a lower risk of occupational injury. Conclusion The distribution of occupational injury population is mainly male, and the time distribution is mainly from May to July. Gender, physical exercise, pre-job training, overtime, and colleague relationship are the influencing factors of occupational injuries. We should strengthen pre-job training, arrange work hours reasonably, and create a good working atmosphere to reduce the occurrence of occupational injuries.

Background Social psychological factors have emerged as a key area of research in occupational injury prevention. Occupational stress, a significant component of social psychology, has garnered widespread attention due to its potential impact on occupational injury. Objective To analyze the factors influencing occupational stress among cable manufacturing workers and explore the relationship between occupational stress and occupational injury, and to provide scientific evidence for reducing occupational stress and injury. Methods A questionnaire on basic demographics, occupational injury, and occupational stress (Effort-Reward Imbalance, ERI) was used to investigate 1343 workers in a cable enterprise. Chi-square test was employed to analyze the distribution of occupational stress across different worker characteristics. Logistic regression was used to identify factors influencing occupational stress, and a decision tree model was applied to assess the impact of occupational stress on injury risk. Results A total of 1225 valid questionnaires were collected, yielding a response rate of 91.2%. The positive rate of occupational stress was 28.7%, while the incidence of occupational injury in the past year was 8.6%. The results of univariate analysis revealed that workers who had experienced occupational injuries had a higher positive rate of occupational stress compared to those without injuries (P<0.05), and there were significant differences in the distribution of occupational stress by genders, overtime work, shift work, daily working hours, fatigue levels, sleep duration, family relationships, and colleague relationships (P<0.05). The logistic regression results showed that individuals who worked shifts, had fair/poor/very colleague relationships, and frequently worked overtime had a higher risk of occupational stress (P<0.05). The final decision tree model confirmed that occupational stress was a risk factor for occupational injury. Additional factors influencing occupational injury included physical exercise, colleague relationships, pre-job training participation, and gender. Workers who exercised less than twice per week and experienced occupational stress had a significantly higher risk of injury (23.6%) compared to those without occupational stress (10.9%). Conclusion Shift work, colleague relationships, and overtime work are correlated with the positive rate of occupational stress among cable manufacturing workers. Implementing a reasonable work schedule and fostering a positive work environment are recommended. Reducing occupational stress may help lower the risk of occupational injuries in this industry.

Objective: To analyze the change trends in the body shape indicators and proportions of students in Harbin from 2010 to 2024, and to investigate ergonomic compatibility of functional dimensions of school desks and chairs with current student shape indicators, so as to provide a reference for revising furniture standards of desks and chairs. Methods: Between September and November of both 2010 and 2024, a combination of convenience sampling and stratified cluster random sampling was conducted across three districts in Harbin, yielding samples of 6 590 and 6 252 students, respectively. Anthropometric shape indicators cluding height, sitting height, crus length, and thigh length-and their proportional changes were compared over the 15-year period. The 2024 data were compared with current standard functional dimensions of school furniture. The statistical analysis incorporated t-test and Mann-Whitney U- test. Results: From 2010 to 2024, average height increased by 1.8 cm for boys and 1.5 cm for girls; sitting height increased by 1.5 cm for both genders; crus length increased by 0.3 cm for boys and 0.4 cm for girls; and thigh length increased by 0.5 cm for both genders. The ratios of sitting height to height, and sitting height to leg length increased by less than 0.1 . The difference between desk chair height and 1/3 sitting height ranged from 0.4-0.8 cm. Among students matched with size 0 desks and chairs, 22.0% had a desk to chair height difference less than 0, indicating that the desk to chair height difference might be insufficient for taller students. The differences between seat height and fibular height ranged from -1.4 to 1.1 cm; and the differences between seat depth and buttock popliteal length ranged from -9.8 to 3.4 cm. Among obese students, the differences between seat width and 1/2 hip circumference ranged from -20.5 to -8.7 cm, while it ranged from -12.2 to -3.8 cm among non obese students. Conclusion Current furniture standards basically satisfy hygienic requirements; however, in the case of exceptionally tall and obese students, ergonomic accommodations such as adaptive seating allocation or personalized adjustments are recommended to meet hygienic requirements.

Obesity, as a chronic recurrent disease, has become a major public health challenge in China. To implement the requirements of the Healthy China Initiative (2019—2030), under domestic guidelines or consensus statements on overweight and obesity, and in alignment with the latest scientific advances globally, the Quality control protocol for adult overweight and obesity screening in health management (examination) institutions (2025 edition) was developed. This protocol was drafted by the Health Management Center of Shanghai Changzheng Hospital and formulated through multiple rounds of deliberation by experts in China’s health examination quality control field. The protocol establishes unified standards for screening facilities, personnel qualifications, and measurement or testing procedures. It defines specific screening items, outlines a standardized screening pathway, and sets requirements for the final medical review, ensuring the scientific validity, effectiveness, and safety of the screening process. The implementation of this protocol will enhance the consistency of weight management practices for adults across health examination institutions and strengthen the quality control of overweight and obesity screening programs.

Objective To explore the application of plasma 7 microRNA (miR7) testing in the differential diagnosis of very early-stage hepatocellular carcinoma (HCC). Methods This study is a multicenter real-world study. Patients with single hepatic lesion (maximum diameter≤2 cm) who underwent plasma miR7 testing at Zhongshan Hospital, Fudan University, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Anhui Provincial Hospital, and Peking University People’s Hospital between January 2019 and December 2024 were retrospectively enrolled. Patients were divided into very early-stage HCC group and non-HCC group, and the clinical pathological characteristics of the two groups were compared. The value of plasma miR7 levels, alpha-fetoprotein (AFP), and des-gamma-carboxy prothrombin (DCP) in the differential diagnosis of very early-stage HCC was evaluated using receiver operating characteristic (ROC) curves and area under the curve (AUC). In patients with both negative AFP and DCP (AFP＜20 ng/mL, DCP＜40 mAU/mL), the diagnostic value of plasma miR7 for very early-stage HCC was analyzed. Results A total of 64 528 patients from 4 hospitals underwent miR7 testing, and 1 682 were finally included, of which 1 073 were diagnosed with very early-stage HCC and 609 were diagnosed with non-HCC. The positive rate of miR7 in HCC patients was significantly higher than that in non-HCC patients (67.9% vs 24.3%, P＜0.001). ROC curves showed that the AUCs for miR7, AFP, and DCP in distinguishing HCC patients from the non-HCC individuals were 0.718, 0.682, and 0.642, respectively. The sensitivities were 67.85%, 43.71%, and 44.45%, and the specificities were 75.70%, 92.78%, and 83.91%, respectively. The pairwise comparison of AUCs showed that the diagnostic efficacy of plasma miR7 detection was significantly better than that of AFP or DCP (P＜0.05). Although its specificity was slightly lower than AFP and DCP, the sensitivity was significantly higher. Among patients negative for both AFP and DCP, miR7 maintained an AUC of 0.728 for diagnosing very early-stage HCC, with 67.82% sensitivity and 77.73% specificity. Conclusions Plasma miR7 testing is a potential molecular marker with high sensitivity and specificity for the differential diagnosis of small hepatic nodules. In patients with very early-stage HCC lacking effective molecular markers (negative for both AFP and DCP), miR7 can serve as a novel and effective molecular marker to assist diagnosis.

In recent years, the application of artificial intelligence (AI) in the field of biology has witnessed remarkable advancements. Among these, the most notable achievements have emerged in the domain of protein structure prediction and design, with AlphaFold and related innovations earning the 2024 Nobel Prize in Chemistry. These breakthroughs have transformed our ability to understand protein folding and molecular interactions, marking a pivotal milestone in computational biology. Looking ahead, it is foreseeable that the accurate prediction of various physicochemical properties of proteins—beyond static structure—will become the next critical frontier in this rapidly evolving field. One of the most important protein properties is thermodynamic stability, which refers to a protein’s ability to maintain its native conformation under physiological or stress conditions. Accurate prediction of protein stability, especially upon single-point mutations, plays a vital role in numerous scientific and industrial domains. These include understanding the molecular basis of disease, rational drug design, development of therapeutic proteins, design of more robust industrial enzymes, and engineering of biosensors. Consequently, the ability to reliably forecast the stability changes caused by mutations has broad and transformative implications across biomedical and biotechnological applications. Historically, protein stability was assessed via experimental methods such as differential scanning calorimetry (DSC) and circular dichroism (CD), which, while precise, are time-consuming and resource-intensive. This prompted the development of computational approaches, including empirical energy functions and physics-based simulations. However, these traditional models often fall short in capturing the complex, high-dimensional nature of protein conformational landscapes and mutational effects. Recent advances in machine learning (ML) have significantly improved predictive performance in this area. Early ML models used handcrafted features derived from sequence and structure, whereas modern deep learning models leverage massive datasets and learn representations directly from data. Deep neural networks (DNNs), graph neural networks (GNNs), and attention-based architectures such as transformers have shown particular promise. GNNs, in particular, excel at modeling spatial and topological relationships in molecular structures, making them well-suited for protein modeling tasks. Furthermore, attention mechanisms enable models to dynamically weigh the contribution of specific residues or regions, capturing long-range interactions and allosteric effects. Nevertheless, several key challenges remain. These include the imbalance and scarcity of high-quality experimental datasets, particularly for rare or functionally significant mutations, which can lead to biased or overfitted models. Additionally, the inherently dynamic nature of proteins—their conformational flexibility and context-dependent behavior—is difficult to encode in static structural representations. Current models often rely on a single structure or average conformation, which may overlook important aspects of stability modulation. Efforts are ongoing to incorporate multi-conformational ensembles, molecular dynamics simulations, and physics-informed learning frameworks into predictive models. This paper presents a comprehensive review of the evolution of protein thermodynamic stability prediction techniques, with emphasis on the recent progress enabled by machine learning. It highlights representative datasets, modeling strategies, evaluation benchmarks, and the integration of structural and biochemical features. The aim is to provide researchers with a structured and up-to-date reference, guiding the development of more robust, generalizable, and interpretable models for predicting protein stability changes upon mutation. As the field moves forward, the synergy between data-driven AI methods and domain-specific biological knowledge will be key to unlocking deeper understanding and broader applications of protein engineering.

Objective To discuss the accuracy and effectiveness of digital subtraction angiography(DSA)in determining the cause of limb ischemia after extra corporeal membrane oxygenation(ECMO.Methods The clinical data of 3 child patients,who developed 4 times of acute limb ischemia during perioperative period of ECMO at the Affiliated Children's Hospital of Zhengzhou University of China from July to October of 2023,were retrospectively analyzed.In all the child patients,emergency angiography was carried out to quickly identify the cause,then,appropriate treatment plan was adopted to open the blood vessels of the right lower limb.Results After the child patients entered the operating room and received DSA examination,the causes of the limb ischemia were quickly identified.After treatment,the blood supply to the lower limbs was restored.Except for one child who experienced irreversible necrosis of the distal limb due to repeated ischemia-reperfusion injury and required amputation,the other two child patients recovered well.Conclusion It is of great significance to perform DSA examination as soon as possible when the child patients develop limb ischemic manifestations after ECMO so as to quickly identify the cause,promptly restore blood supply to ischemic limbs and increase limb preservation rate,besides,DSA examination can also be used as a preventive measure for child patients after ECMO.

Objective To discuss the application value of intracavitary semiconductor laser therapy in improving facial appearance for child patients with facial venous malformations(VM)after receiving sclerotherapy.Methods The clinical data of 12 child patients with facial VM after receiving sclerotherapy,for whom the improvement of their facial appearance was difficult and who were admitted to the Affiliated Children's Hospital of Zhengzhou University of China from February 2023 to February 2024,were retrospectively analyzed.Intracavitary semiconductor laser treatment was adopted in all the 12 child patients.All the child patients were followed up to check the degree of appearance improvement and lesion volume reduction,and the curative effect was evaluated.Results Three months after intracavitary semiconductor laser treatment,obvious improvement of facial appearance was obtained in all the 12 child patients.The mean postoperative PAC-QOL psychological discomfort score was(10.4±3.9)points,when compared with the preoperative(23.7±4.3)points the difference was statistically significant(P＜0.05).MRI examination showed that after treatment no obvious improvement of the lesion was seen in 0 case,moderate improvement in one case,significant improvement in 4 cases,and cure in 7 cases.Conclusion Intracavitary semiconductor laser therapy has significant therapeutic effect in improving facial appearance for child patients with facial VM after receiving sclerotherapy,for whom the improvement of their facial appearance is difficult,therefore,this therapy has high clinical application value.

Objective To evaluate the results of anorectal dynamics in patients with severe rec-tocele.Methods A retrospective analysis was conducted on the clinical data of 38 patients defini-tively diagnosed with severe rectocele at the pelvic floor center of the anorectal department of Nanjing Hospital of Traditional Chinese Medicine from January 2020 to January 2023.All patients underwent anorectal manometry,and the results of anorectal dynamics were analyzed.Results A total of 15 pa-tients(39.47％)had elevated anal resting pressure(ARP),20(52.63％)had normal ARP,and 3(7.89％)had decreased ARP.Five patients(13.16％)had elevated maximum anal sphincter pressure(MASP),9(23.68％)had normal MASP,and 24(63.16％)had decreased MASP.Nor-mal defecation relaxation reflex was observed in 15 patients(39.47％),and abnormal defecation re-laxation reflex was observed in 23 patients(60.53％).Ten patients(26.32％)had normal rectal defecation pressure,and 28(73.68％)had decreased rectal defecation pressure.Eleven patients(28.95％)had elevated rectal initial sensory threshold(RIST),27(71.05％)had normal RIST.Fifteen patients(39.47％)had elevated rectal defecation sensory threshold,21(55.26％)had normal rectal defecation sensory threshold,and 2(5.26％)had decreased rectal defecation sensory threshold.Three patients(7.89％)had elevated rectal maximum tolerable volume,26(68.42％)had normal rectal maximum tolerable volume,and 9(23.68％)had decreased rectal maximum tolerable vol-ume.ARP was moderately positively correlated with the chronic constipation severity(CSS)score(P=0.007,r=0.429),and abnormal defecation relaxation reflex was moderately negatively correla-ted with the CSS score(P=0.019,r=-0.329).In 3 patients(7.89％),both ARP and MASP were decreased,and both ARP and MASP were elevated in 5 patients(13.16％).Conclusion Pre-operative anorectal dynamics analysis is necessary for patients with severe rectocele to formulate a reasonable individualized surgical plan and postoperative rehabilitation program.