1.Application of artificial intelligence-assisted chromosome karyotyping analysis in prenatal diagnosis of chromosomal mosaicism.
Ling ZHAO ; Shiwei SUN ; Qinghua ZHENG ; Qing YU ; Chongyang ZHU ; Ling LIU ; Yueli WU
Chinese Journal of Medical Genetics 2026;43(3):180-187
OBJECTIVE:
To explore the application value of artificial intelligence (AI)-assisted chromosomal karyotype analysis in the diagnosis of prenatal chromosomal mosaicism.
METHODS:
A retrospective analysis was conducted on 172 pregnant women who underwent amniocentesis at the Department of Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University between January 2019 and December 2024. All cases whose fetuses were diagnosed with chromosomal mosaicism via karyotype analysis and stratified into two groups based on the analytical software employed: the conventional analysis group (n = 70), which utilized Leica analysis software for karyotype image recognition and cell counting; and the AI-assisted analysis group (n = 102), which utilized AI-assisted software for the same procedures. The clinical performance of AI-assisted karyotype analysis in diagnosing chromosomal mosaicism was comprehensively evaluated by comparing the types of mosaic karyotypes, distribution of mosaic ratios, and verification outcomes of different detection modalities between the two groups. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-406-01).
RESULTS:
No statistically significant difference was observed in baseline characteristics (maternal age, gestational week, and indications for prenatal diagnosis) between the two groups. Regarding the detection efficacy for numerical and structural mosaicisms, no significant difference was found in the detection of numerical mosaicism. However, the conventional analysis group exhibited a significantly higher detection rate of autosomal structural mosaicism compared to the AI-assisted group (11.43% vs. 0.98%, P < 0.05). Numerical mosaicism cases were further verified using copy number variation sequencing (CNV-seq) and/or fluorescence in situ hybridization (FISH). The AI-assisted group demonstrated a significantly lower inconsistency rate (5.56% vs. 20.41%, P < 0.05) compared to the conventional group. For low-proportion (< 10%) chromosomal mosaicism, the AI-assisted group had a significantly lower detection rate (13.25% vs. 29.69%, P < 0.05). Subsequent validation of low-proportion mosaicism by CNV-seq and/or FISH showed a higher consistency rate in the AI-assisted group (81.82% vs. 54.55%), though the difference did not reach statistical significance (P = 0.360).
CONCLUSION
For the karyotyping analysis of prenatal chromosomal mosaicism, AI-assisted karyotype analysis shows high accuracy and consistency in identifying numerical chromosomal mosaicism, particularly in reducing the detection of low-proportion (< 10%) mosaicism while improving verification accuracy. AI-assisted analysis can significantly improve the detection accuracy of numerical mosaicism and mitigate the risk of misclassification for low-proportion (< 10%) mosaicism, thereby providing more precise clinical evidence for the prenatal diagnosis of chromosomal mosaicisms.
Humans
;
Female
;
Mosaicism
;
Pregnancy
;
Karyotyping/methods*
;
Artificial Intelligence
;
Prenatal Diagnosis/methods*
;
Adult
;
Retrospective Studies
;
Chromosome Disorders/genetics*
;
Amniocentesis
2.Eye-tracking analysis reveals the influence of professional background and gender on gaze patterns toward lateral profiles
Tingting WU ; Xiuyun ZHENG ; Xinyi SONG ; Xiaoyu LIU
Acta Universitatis Medicinalis Anhui 2026;61(2):335-343
ObjectiveTo explore the visual attention distribution across different lateral facial profiles and analyze the influence of observer gender and professional background on aesthetic evaluation, providing an aesthetic basis for the design of clinical orthodontic treatment. MethodsEye-tracking technology was employed to record the gaze paths of 136 subjects (orthodontists, non-orthodontic dentists, and non-medical professionals) when evaluating three types of male and female lateral profiles (convex, straight, and concave). A questionnaire survey was conducted using a visual analog scale (VAS). Data differences and the consistency between eye-tracking and questionnaire results were analyzed through t-tests, analysis of variance (ANOVA), and Kappa coefficient analysis. ResultsThe questionnaire scores for straight profiles were significantly higher than those for convex and concave profiles (P<0.05). Eye-tracking revealed that subjects primarily focused on the eye and nasal regions (P<0.001), followed by the mouth. However, orthodontists showed no significant difference in attention between the mouth and eye-nasal areas (P>0.05). Additionally, gender differences were notable. Female observers prioritized the mouth (P<0.05), while male observers paid later attention to the oral-buccal region. The forehead and chin rapidly attracted attention during the initial evaluation phase, particularly in female concave profiles (P<0.05). Eye-tracking data demonstrated high consistency with questionnaire results (κ=0.868). ConclusionThis study, utilizing eye-tracking technology, finds that the eye and nasal regions are the core focus areas for aesthetic evaluation of lateral profiles. Gender differences result in distinct gaze preferences (males emphasize the nose, while females emphasize the eyes), whereas orthodontists focus more on the lips and forehead. As aesthetic baselines, the forehead and chin, with their profile characteristics, should be prioritized in treatment. This research provides a basis for developing personalized orthodontic plans and establishing aesthetic consensus between clinicians and patients.
3.Construction of an index system for assessment of schistosomiasis transmission risk following natural disasters
Jingye SHANG ; Chenghang YU ; Zisong WU ; Xianhong MENG ; Huirong XU ; Chaofu WANG ; Bin ZHENG ; Shizhu LI ; Yang LIU
Chinese Journal of Schistosomiasis Control 2026;38(1):60-68
Objective To construct an index system for assessment of schistosomiasis transmission risk following natural disasters such as rainstorms, floods, earthquakes, mudslides, and landslides, so as to provide insights into rapid identification of schistosomiasis transmission risk post-disasters and formulation of targeted schistosomiasis control strategies. Methods An initial framework for the index system for assessment of schistosomiasis transmission risk following natural disasters was drafted through literature review, brainstorming, and focus group discussions. Two rounds of expert correspondence consultations were conducted using the Delphi method to refine and finalize the system, and the degrees of expert activeness, authority and endorse ment, and consensus were evaluated. In addition, the weights of each index were calculated using the analytic hierarchy process. Results A total of 18 experts participated in the consultation. The expert positive coefficients were 100.00% and 94.44% for two rounds of consultations, with authority coefficients of 0.92 and 0.94, respectively. The coefficients of coordination on the index importance, rationality and operability were 0.209, 0.185, 0.222 and 0.407, 0.214, 0.257 for two rounds of consultations, respectively, and all consistency tests were statistically significant (χ2 = 246.771 to 505.278, all P values < 0.001). Following two rounds of expert consultations, an index system consisting of 6 first-level indicators, 15 second-level indicators, and 49 third-level indicators was ultimately constructed. In terms of first-level indicators, “disaster situation”, “previous epidemics”, “healthcare guarantee”, “response capacity” and “emergency recovery” had the highest weights, each at 18.18%. Regarding second-level indicators, “Schistosoma japonicum infections in animals”, “S. japonicum infections in snails” and “medical treatment” had the highest weights, each at 7.35%. In terms of third-level indicators, ten items had the highest weights, including “identification of schistosomiasis cases”, “detection of S. japonicum infections in wild feces”, “detection of S. japonicum infections in snails”, “reserves of schistosomiasis diagnostic/testing reagents and consumables”, “reserves of chemotherapy agents for human and animal schistosomiasis”, “reserves of cercariacides”, “periodical surveillance on schistosomiasis”, “identification of schistosomiasis transmission risk and timely response”, “normal provision of diagnosis and treatment services” and “post-disaster schistosomiasis surveillance”, each at 2.40%. Conclusion A scientific, systematic, and practical index system has been constructed for assessment of schistosomiasis transmission risk following natural disasters, which may provide insights into rapid post-disaster identification of schistosomiasis transmission risk, formulation of targeted schistosomiasis control strategies and optimization of resource allocation.
4.Time series study on influence of sulfur dioxide exposure on hospitalization of chronic obstructive pulmonary disease in Lanzhou from 2016 to 2020
Sheng LIN ; Boxi FENG ; Yongyue LI ; Yiwei HUANG ; Kai ZHENG ; Mingxuan LIU ; Yingying YANG ; Xingmin WEI ; Jianjun WU
Journal of Environmental and Occupational Medicine 2026;43(4):451-457
Background In 2021, chronic obstructive pulmonary disease (COPD) emerged as the forth leading cause of death in the world. However, the impact of air pollutants on COPD is still inconsistent across current studies. Objective To analyze the relationship between ambient sulfur dioxide (SO2) exposure and hospital admissions for COPD in Lanzhou, and to examine the modified effects of SO2 across different genders, age groups, and seasons. Methods A total of
5.Association of personality and sleep quality with psychological distress of junior and senior high school stduents
Chinese Journal of School Health 2026;47(1):65-69
Objective:
To explore the effects of personality and sleep quality with psychological distress of junior and senior high school stduents, so as to provide a reference basis for precise interventions of junior and senior high school students mental health.
Methods:
In October 2023, a convenience sampling method was used to select 9 034 students aged 12-17 from Shiyan City as the study subjects. The Pittsburgh Sleep Quality Index (PSQI) and Kessler Psychological Distress Scale (K10) were used to collect information on sleep quality and psychological distress of junior and senior high school stduents. Between group comparison was conducted by using t-test and Chi-square test. Generalized linear models were employed to analyze the interaction and joint effects of personality and sleep quality on psychological distress.
Results:
The generalized linear model analysis showed that the interaction between personality and sleep quality on psychological distress was statistically significant of junior and senior high school students(effect size=0.80, P <0.01). The general linear model analysis indicated that, after adjusting for variables such as age, gender, screen time, and daily sitting time with the extroverted and good sleep quality group as the reference, the introverted and poor sleep quality group had the largest mean difference in psychological distress scores (difference=0.51, P <0.05). When stratified by sleep quality, psychological distress scores were higher in the introverted and neutral personality groups with both poor and good sleep quality compared to the extroverted group (poor sleep quality: introverted difference=3.71, neutral difference=1.14; good sleep quality: introverted difference=2.23, neutral difference=0.57, all P < 0.05). When stratified by personality, psychological distress scores were higher in the poor sleep quality groups for introverted, neutral, and extroverted individuals compared to their good sleep quality counterparts (differences=8.66, 7.83, 7.34, all P < 0.05 ).
Conclusions
Personality and sleep quality have interactive and joint effects on psychological distress of junior and senior high school stduents. Personalized psychological interventions should be developed based on personality and sleep quality.
6.Clinical Advantages of Traditional Chinese Medicine in Treatment of Childhood Simple Obesity: Insights from Expert Consensus
Qi ZHANG ; Yingke LIU ; Xiaoxiao ZHANG ; Guichen NI ; Heyin XIAO ; Junhong WANG ; Liqun WU ; Zhanfeng YAN ; Kundi WANG ; Jiajia CHEN ; Hong ZHENG ; Xinying GAO ; Liya WEI ; Qiang HE ; Qian ZHAO ; Huimin SU ; Zhaolan LIU ; Dafeng LONG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(6):238-245
Childhood simple obesity has become a significant public health issue in China. Modern medicine primarily relies on lifestyle interventions and often suffers from poor long-term compliance, while pharmacological options are limited and associated with potential adverse effects. Traditional Chinese Medicine (TCM) has a long history in the prevention and management of this condition, demonstrating eight distinct advantages, including systematic theoretical foundation, diversified therapeutic approaches, definite therapeutic efficacy, high safety profile, good patient compliance, comprehensive intervention strategies, emphasis on prevention, and stepwise treatment protocols. Additionally, TCM is characterized by six distinctive features: the use of natural medicinal substances, non-invasive external therapies, integration of medicinal dietetics, simple exercise regimens, precise syndrome differentiation, and diverse dosage forms. By combining internal and external treatments, TCM facilitates individualized regimen adjustment and holistic regulation, demonstrating remarkable effects in improving obesity-related metabolic indicators, regulating constitutional imbalance, and promoting healthy behaviors. However, challenges remain, such as inconsistent operational standards, insufficient high-quality clinical evidence, and a gap between basic research and clinical application. Future efforts should focus on accelerating the standardization of TCM diagnosis and treatment, conducting multicenter randomized controlled trials, and fostering interdisciplinary integration, so as to enhance the scientific validity and international recognition of TCM in the prevention and treatment of childhood obesity.
7.The role of establishing the concept of"liver and pancreas co-management"in the treatment of pancreatic diseases
Kongyuan WEI ; Canitano NICOLA ; Shuo WANG ; Zipeng LU ; Kuirong JIANG ; Zhenhua MA ; Zheng WU ; Qingyong MA ; Marchegiani GIOVANNI ; Hackert THILO ; Zheng WANG
Chinese Journal of Surgery 2026;64(1):79-82
With the continuous development of new surgical technology, new equipment and new concepts, the research focused in the field of surgery is also in constant change. Among them, there are still confusion and controversies in the current clinical practice when facing the one-stop proposition of benefit population screening, advantageous surgical indication decision-making, surgical intervention timing selection, postoperative complication prediction and management. Therefore, our team tries to analyze whether the concept of"co-management of liver and pancreas"exists in clinical practice from the aspects of anatomy, physiology, histology and embryology of liver and pancreas, as well as the interaction between liver and pancreas, and explore the relationship between liver and pancreas in anatomy and tissue embryonic development, and the relationship between the concept of"co-management of liver and pancreas"and pancreatitis and pancreatic tumors as well as the concept of “co-management of liver and pancreas” applied in neoadjuvant chemoradiotherapy, and attempts to establish a new treatment pathway for pancreatic diseases based on this concept, in order to provide a new idea, new scheme and new possibility for the clinical research of pancreatic diseases and pancreatic surgery.
8.Investigation on the microclimate of primary and secondary school classrooms in five provinces and municipalities of China in winter
Chinese Journal of School Health 2026;47(2):158-162
Objective:
To understand the microclimate in primary and secondary school classrooms for the study period during the winter heating season, so as to provide a reference for the revision and improvement of relevant health standards.
Methods:
In December 2024, stratified random sampling was used to select 30 primary and secondary schools and 180 classrooms from the northern regions with centralized heating (Liaoning Province, Tianjin City) and the southern regions without centralized heating (Shanghai City, Anhui Province, and Jiangxi Province). Indoor temperature, relative humidity, wind speed, CO 2 and other indicators were measured on site. Variance analysis, t-test, Mann-Whitney U test and Kruskal-Wallis H test were used to analyze the differences in the microclimate of classrooms among regions and urban and rural differences.
Results:
The average temperature in the middle of the classrooms tested on site was (16.47±4.72)℃, and the variance analysis showed that the difference between the regions was statistically significant ( F=27.80, P <0.01). Among them, Tianjin had the highest average temperature of (20.43± 2.12 )℃, followed by Liaoning (19.03±2.23)℃, Shanghai (15.33±5.32)℃, Anhui (12.79±1.74)℃, and Jiangxi (11.69± 1.68 )℃. Horizontal temperature difference was 0.90 (0.50, 1.60)℃, the vertical temperature difference was 0.20 (0.10,0.60)℃, the average relative humidity was (44.39±16.16)%, the wind speed was 0.03(0.01,0.11)m/s, and the differences among different provinces and cities were statistically significant ( H/F =40.62, 82.69, 95.06, 55.28, all P <0.01). The average CO 2 volume concentration in urban areas of Tianjin, Liaoning, and Shanghai was 0.21(0.16,0.30)%, and there was no statistically significant difference ( H=4.65, P =0.10). There were grade differences in relative humidity ( F =3.71, 6.21) and CO 2 ( H =14.72, 12.92) in the north and the south (all P <0.05). In addition, the temperature, relative humidity, wind speed and CO 2 in the middle of the classroom were 42.8%, 67.8%, 100.0% and 22.2% respectively.
Conclusions
The temperature in the middle of the classroom in the non centralized heating area is lower than the standard, the relative humidity of classroom in the centralized heating area is lower than the standard,and the CO 2 in the classroom in winter is lower than the standard. It is recommended to install heating facilities in schools with low temperatures to increase the temperature and increase the frequency of ventilation in classrooms or adopt mechanical ventilation strategies to reduce CO 2 volume concentration.
9.Indoor environment management and CO 2 volume concentration of primary and secondary school classrooms in winter across three provinces and municipalities of China
Chinese Journal of School Health 2026;47(2):163-167
Objective:
To evaluate the classroom environmental management and CO 2 volume concentration in primary and secondary schools from Liaoning, Tianjin, and Shanghai, thereby providing a scientific basis for developing targeted strategies to improve classroom air quality.
Methods:
From December 16 to 26, 2024, by using stratified random cluster sampling method, the questionnaire survey was conducted in 72 primary and secondary schools (24 each of primary, junior high, and regular high schools) across Liaoning, Tianjin and Shanghai. Information on heating, ventilation and other classroom environmental management was collected. Additionally, 108 classrooms were selected for on site microclimate measurements, including temperature, humidity, wind speed and CO 2 volume concentration. Univariate analysis and multiple linear regression models were employed to explore related factors of classroom CO 2 volume concentration.
Results:
Among the three provinces/municipalities, 20.8% of schools regularly monitored the microclimate. The overall compliance rate for classroom CO 2 volume concentration was 17.6%. Multiple linear regression analysis showed that CO 2 volume concentration in regular and junior high school classrooms were higher than in primary school classrooms ( β=0.067, 0.046, 95%CI =0.036-0.099, 0.013-0.080); classrooms ventilated regularly in the morning and afternoon had higher CO 2 volume concentration than those ventilated during every break between classes ( β=0.043, 95%CI = 0.007- 0.080); both temperature ( β=0.010, 95%CI =0.004-0.016) and humidity ( β=0.003, 95%CI =0.002-0.004) were positively correlated with CO 2 volume concentration (all P <0.05).
Conclusions
Excessive CO 2 volume concentration in primary and secondary school classrooms is a prominent issue, and ventilation frequency is a key intervenable factor for controlling CO 2 levels. It is recommended to promote ventilation during every break between classes as a core management measure and to emphasize air quality supervision in regular high school classrooms.
10.Efficacy and safety of HLX02 versus Herceptin combined with pertuzumab in neoadjuvant therapy for HER-2 positive breast cancer: a multicenter study based on propensity score matching
LIN Muyun1,2 ; WU Xiuping3 ; ZHENG Zifang4 ; ZHENG Changyue5 ; LI Kui1,2 ; LIU Yiying1,2 ; CHEN Haiying1,2 ; SU Siying1,2 ; LI Hang1,2
Chinese Journal of Cancer Biotherapy 2026;33(2):199-208
[摘 要] 目的:评估汉曲优(HLX02,Zercepac®)与帕妥珠单抗联合化疗在人表皮生长因子受体2(HER-2)阳性、非特殊型浸润性乳腺癌患者中的新辅助治疗效果,并与传统曲妥珠单抗原研药赫赛汀联合帕妥珠单抗方案的疗效和安全性进行对比。方法:本研究为一项多中心回顾性队列研究。纳入2020年5月至2024年9月于莆田学院附属医院及漳州正兴医院接受汉曲优或赫赛汀(均联合帕妥珠单抗及化疗)新辅助治疗的132例HER-2阳性乳腺癌患者。主要终点为病理完全缓解(pCR)率(依据Miller-Payne系统G5级定义)。次要终点包括客观缓解率(ORR,基于RECIST 1.1标准)、不良事件(采用CTCAE 5.0和PRO-CTCAE标准评估)发生率、生活质量(EORTC QLQ-C30量表)及治疗费用。采用SPSS 27.0软件进行统计分析,为控制混杂偏倚,应用倾向性评分匹配(PSM)以1∶1比例匹配组间基线特征。结果:经筛选后共117例患者纳入分析(汉曲优组65例,赫赛汀组52例)。经PSM匹配后,两组各42例患者,基线特征均衡。汉曲优组与赫赛汀组的pCR率无显著差异(66.67% vs 69.05%,P = 0.815)。两组的ORR(83.33% vs 85.71%,P = 0.763)、各级别不良事件发生率及生活质量评分均无统计学差异(均P > 0.05)。然而,汉曲优组患者自付费用显著低于赫赛汀组[(40 358.82 ± 15 042.69)元 vs (51 170.20 ± 15 664.63)元,P = 0.002]。结论:本真实世界研究表明,在新辅助治疗中,汉曲优联合帕妥珠单抗相较于赫赛汀联合帕妥珠单抗,在HER-2阳性IBC-NST患者中表现出相当的疗效和相似的安全性,且能显著减轻患者的经济负担,为国产生物类似药的临床应用提供了循证依据。


Result Analysis
Print
Save
E-mail