1.Strategies for Building an Artificial Intelligence-Empowered Trusted Federated Evidence-Based Analysis Platform for Spleen-Stomach Diseases in Traditional Chinese Medicine
Bin WANG ; Huiying ZHUANG ; Zhitao MAN ; Lifeng REN ; Chang HE ; Chen WU ; Xulei HU ; Xiaoxiao WEN ; Chenggong XIE ; Xudong TANG
Journal of Traditional Chinese Medicine 2026;67(1):95-102
This paper outlines the development of artificial intelligence (AI) and its applications in traditional Chinese medicine (TCM) research, and elucidates the roles and advantages of large language models, knowledge graphs, and natural language processing in advancing syndrome identification, prescription generation, and mechanism exploration. Using spleen-stomach diseases as an example, it demonstrates the empowering effects of AI in classical literature mining, precise clinical syndrome differentiation, efficacy and safety prediction, and intelligent education, highlighting an upgraded research paradigm that evolves from data-driven and knowledge-driven approaches to intelligence-driven models. To address challenges related to privacy protection and regulatory compliance in cross-institutional data collaboration, a "trusted federated evidence-based analysis platform for TCM spleen-stomach diseases" is proposed, integrating blockchain-based smart contracts, federated learning, and secure multi-party computation. The deep integration of AI with privacy-preserving computing is reshaping research and clinical practice in TCM spleen-stomach diseases, providing feasible pathways and a technical framework for building a high-quality, trustworthy TCM big-data ecosystem and achieving precision syndrome differentiation.
2.Role of insomnia symptoms in the association between drinking behaviors and anxiety symptoms in college freshmen
YANG Jieru, LI Xiaoxiao,HUANG Yan, HU Dongyue, YANG Jiaxing, BAO Jinying, CHANG Litao, LEI Yuanting, XU Honglü ;
Chinese Journal of School Health 2026;47(2):250-255
Objective:
To analyze the association between drinking behaviors and anxiety symptoms, with the mediating role of insomnia symptoms among college freshmen, so as to provide a reference basis for reducing the occurrence of anxiety symptoms in college freshmen.
Methods:
From October to December 2021, 31 856 freshmen were selected by the purposive sampling method in 22 colleges across 11 provinces (Fujian, Jiangsu, Guangdong, Henan, Anhui, Hubei, Shanxi, Jiangxi, Shaanxi, Yunnan, Chongqing) in China. The Semi quantitative Food Frequency Questionnaire was used to investigate college freshmen drinking behaviors. The Depression Anxiety Stress Scale 21 and the Insomnia Severity Index were used to assess anxiety symptoms and insomnia symptoms in college freshmen. The generalized linear model was employed to analyze the association between drinking behaviors and anxiety symptoms in college freshmen, and the structural equation modeling was used to assess the mediating effect of insomnia symptoms on the association.
Results:
The detection rate of anxiety symptoms among college freshmen was 28.2%, the detection rates of the mild, moderate, severe and extremely severe were 6.6%, 15.9%, 3.2% and 2.6%, respectively. While 23.6% of college freshmen reported drinking in the past month, the rates were 39.8% among boys and 15.9% among girls. After adjusting for demographic variables (ethnicity, education, major, etc.) and confounding variables (self evaluation of learning burden, number of close friends, screen time, etc.), the results of generalized linear model analysis showed that beer consumption was associated with anxiety symptoms in college freshmen( β =0.09, 95% CI =0.04-0.14), girls( β =0.14, 95% CI =0.07-0.21) and those aged 19-20 years ( β =0.12, 95% CI =0.05-0.19)(all P <0.05). Red wine consumption was associated with anxiety symptoms in male students ( β =0.13, 95% CI =0.02-0.24, P <0.05). Alcohol and beer consumption were associated with insomnia in college freshmen[ β (95% CI ) =0.22(0.08-0.36),0.31(0.23-0.39),both P <0.01]. Insomnia symptoms partially mediated the association between drinking behaviors and anxiety symptoms among college freshmen with a mediating effect value of 0.05, accounting for 50.49% of the total effect.
Conclusions
Insomnia symptoms partially mediates the association between drinking behaviors and anxiety symptoms in college freshmen. Measures should be taken to simultaneously intervene in the drinking behaviors and insomnia symptoms of college freshmen to prevent the occurrence of their anxiety symptoms.
3.Clinical Efficacy and Economic Evaluation of 1293 Non-Severe Adult Patients with Community-Acquired Pneumonia Treated by the Jiangsu Traditional Chinese Medicine Diagnosis and Treatment Protocol for Dominant Diseases:A Multicenter,Retrospective Real-World Cohort Study
Ye MA ; Yeqing JI ; Zhichao WANG ; Fanchao FENG ; Mingzhi PU ; Hong LYU ; Xiaodong HU ; Gaohua FENG ; Xiaoqian FANG ; Guicai ZHANG ; Yanfen TANG ; Yeqing ZHANG ; Yao ZHUFU ; Wenpan PENG ; Hao WANG ; Cheng GU ; Zhichao ZHANG ; Shuang YANG ; Xinyu SUN ; Qi ZHAO ; Aojie GUO ; Xin TONG ; Zhuoyue WU ; Xiaoxiao WANG ; Jia LIU ; Hailang HE ; Xianmei ZHOU
Journal of Traditional Chinese Medicine 2026;67(9):966-974
ObjectiveTo evaluate the clinical efficacy and economic value of the Jiangsu Traditional Chinese Medicine (TCM) Diagnosis and Treatment Protocol for Dominant Diseases (abbreviated as the Diagnosis and Treatment Protocol) in adult patients with non-severe community-acquired pneumonia (CAP) based on real-world clinical data. MethodsA retrospective real-world cohort study was conducted using electronic medical records of adult patients hospitalized for non-severe CAP from September 1st, 2023 to December 31st, 2024 across 10 TCM hospitals in Jiangsu province. Patients were classified into an exposure group and a non-exposure group based on whether they received Chinese herbal medicine (CHM) according to the Diagnosis and Treatment Protocol. The non-exposure group received only conventional western medicine, while the exposure group additionally received differentiated CHM for at least five consecutive days. Outcomes were compared between two patient groups, including cough resolution rate, sputum resolution rate (assessed by volume, color, and consistency), incidence of abnormal C-reactive protein (CRP), incidence of abnormal white blood cell (WBC) count, and radiographic resolution rate of pulmonary infiltrates on chest imaging. Multivariable logistic regression was performed to identify factors influencing clinical efficacy. Subgroup analyses were conducted according to age, gender, smoking status, history of hypertension, and pneumonia severity score (CURB-65), and the efficacy of treatment for cough and sputum was analyzed within each subgroup. Cost-effectiveness analysis was conducted using cough resolution rate as the outcome measure, evaluating the pharmacoeconomics of the two groups. ResultsA total of 1688 patients were included with 1293 in the exposure group and 395 in the non-exposure group. Compared to the non-exposure group, the exposure group demonstrated significantly higher resolution rates of cough, sputum volume, color, and consistency, as well as a significantly lower incidence of abnormal CRP (P<0.05). No statistically significant difference was observed between the groups in terms of abnormal WBC count and radiographic resolution rate of pulmonary infiltrates (P>0.05). Logistic regression analysis showed that the cough resolution rate in the exposure group was 1.83 times that of the non-exposure group, while the probabilities of resolution in sputum volume, color, and consistency were 1.37, 2.09, and 1.56 times those of the non-exposure group, respectively (P<0.05). Subgroup analyses showed that the exposure group achieved significantly higher cough resolution rates across most subgroups except for populations with a CURB-65 score ≥2 or those with a history of hypertension (P<0.05). Specifically, among females, patients aged ≥18 and <65 years, non-smokers, those without hypertension, and those with a CURB-65 score of 0, the exposure group showed a higher cough resolution rate than the non-exposure group (P<0.05). From an economic perspective, total hospitalization cost, length of stay, antibiotic cost, and CHM cost all differed significantly between groups (P<0.05). The cost-effectiveness ratio (CER) was 10,788.80 CNY/case in the exposure group, while 22,513.80 CNY/case in the non-exposure group. This implies that, compared with the exposure group, the non-exposure group incurred an additional 17,302.27 CNY to achieve one case of cough resolution. When the willingness-to-pay threshold ranged from 0 to 50,000 CNY, the probability of economic advantage was consistently higher in the exposure group than in the non-exposure group. ConclusionOn the basis of conventional western medicine, the addition of CHM in accordance with the Diagnosis and Treatment Protocol can effectively improve clinical symptoms, reduce inflammatory markers, promote clinical recovery, and is more cost-effective in treating adults with non-severe CAP.
4.Efficacy and Economic Evaluation of Weishi Qingjin Formula (苇石清金方)in the Treatment of Adult Community-Acquired Pneumonia with Phlegm-Heat Obstructing the Lung Syndrome:A Multicenter Retrospective Real-World Cohort Study
Yeqing JI ; Ye MA ; Zhichao WANG ; Fanchao FENG ; Mingzhi PU ; Hong LYU ; Xiaodong HU ; Gaohua FENG ; Xiaoqian FANG ; Guicai ZHANG ; Yanfen TANG ; Yeqing ZHANG ; Yao ZHUFU ; Wenpan PENG ; Hao WANG ; Cheng GU ; Zhichao ZHANG ; Shuang YANG ; Xinyu SUN ; Qi ZHAO ; Aojie GUO ; Xin TONG ; Zhuoyue WU ; Xiaoxiao WANG ; Jia LIU ; Hailang HE ; Xianmei ZHOU
Journal of Traditional Chinese Medicine 2026;67(9):975-984
ObjectiveTo observe the real‑world effectiveness and economic outcomes of Weishi Qingjin Formula (苇石清金方, WQF) in the treatment of adult community‑acquired pneumonia (CAP) with phlegm‑heat obstructing the lung syndrome. MethodsBased on a multicenter, real-world retrospective cohort study, clinical data were collected from hospitalized adult patients diagnosed with non‑severe CAP and phlegm‑heat obstructing the lung syndrome in 10 traditional Chinese medicine (TCM) hospitals in Jiangsu province. Patients were divided into an exposure group (those who received oral WQF) and a non‑exposure group (those who did not). The following outcomes were compared between the two groups before and after treatment, which were remission rates of clinical symptoms including cough, expectoration (sputum volume, color, consistency), and chest pain, levels of inflammatory markers including C‑reactive protein (CRP) and white blood cell count (WBC), and the rate of pulmonary inflammatory absorption on chest CT. Subgroup analyses were performed based on age, gender, smoking status, presence of hypertension, and the severity of community-acquired pneumonia (CURB‑65) score, comparing the two groups in terms of cough remission rate, chest pain remission rate, and chest CT absorption rate. For health economic evaluation, cost‑effectiveness analysis was used to calculate the cost‑effectiveness ratio (CER) and incremental cost‑effectiveness ratio (ICER). Univariate sensitivity analysis and probabilistic sensitivity analysis were performed to test the robustness of the results. ResultsA total of 647 patients in the exposure group and 1491 patients in the non-exposure group were included in the final statistical analysis. There was no statistically significant difference in length of hospital stay, gender, marital status, smoking history, bronchoscopy history, and comorbidities between the groups (P>0.05), but age, CURB-65 score, and antibiotic use. The exposure group had significantly higher remission rates of cough and sputum consistency than the non-exposure group (P<0.05). After adjusting for confounders using propensity score matching and logistic regression, the cough remission rate in the exposure group was 1.49 times that of the non-exposure group (P<0.01). No significant difference was observed between groups in the reduction rates of CRP and WBC, and in the rate of pulmonary inflammatory absorption on chest CT (P>0.05). Subgroup analyses revealed that the cough remission rate in the exposure group was significantly better than that in the non-exposure group except for patients aged ≥65 years, smokers, hypertensive patients, those using other type antibiotics or not using antibiotics, and those with a CURB-65 score ≥1 (P<0.05). Among smokers, the chest pain remission rate in the exposure group was 4.38 times that of the non-exposure group (P<0.01). No significant difference in chest CT absorption rate was found between groups across subgroups of gender, age, hypertension status, or antibiotic type (P>0.05). In terms of economic evaluation, CER was 10,877.60 CNY/case in the exposure group and 16,773.10 CNY/case in the non-exposure group. Compared to the exposure group, the non-exposure group incurred an additional 15,034.26 CNY to achieve one case of cough resolution, indicating a more favorable cost-effectiveness profile. Probabilistic sensitivity analysis yielded results consistent with the cost-effectiveness analysis, confirming the robustness of the findings. ConclusionWQF demonstrates significant efficacy in improving cough symptoms in the treatment of adult CAP with phlegm-heat obstructing the lung syndrome, and also exhibits favorable economic benefits.
5.Clinical Efficacy and Economic Evaluation of 1293 Non-Severe Adult Patients with Community-Acquired Pneumonia Treated by the Jiangsu Traditional Chinese Medicine Diagnosis and Treatment Protocol for Dominant Diseases:A Multicenter,Retrospective Real-World Cohort Study
Ye MA ; Yeqing JI ; Zhichao WANG ; Fanchao FENG ; Mingzhi PU ; Hong LYU ; Xiaodong HU ; Gaohua FENG ; Xiaoqian FANG ; Guicai ZHANG ; Yanfen TANG ; Yeqing ZHANG ; Yao ZHUFU ; Wenpan PENG ; Hao WANG ; Cheng GU ; Zhichao ZHANG ; Shuang YANG ; Xinyu SUN ; Qi ZHAO ; Aojie GUO ; Xin TONG ; Zhuoyue WU ; Xiaoxiao WANG ; Jia LIU ; Hailang HE ; Xianmei ZHOU
Journal of Traditional Chinese Medicine 2026;67(9):966-974
ObjectiveTo evaluate the clinical efficacy and economic value of the Jiangsu Traditional Chinese Medicine (TCM) Diagnosis and Treatment Protocol for Dominant Diseases (abbreviated as the Diagnosis and Treatment Protocol) in adult patients with non-severe community-acquired pneumonia (CAP) based on real-world clinical data. MethodsA retrospective real-world cohort study was conducted using electronic medical records of adult patients hospitalized for non-severe CAP from September 1st, 2023 to December 31st, 2024 across 10 TCM hospitals in Jiangsu province. Patients were classified into an exposure group and a non-exposure group based on whether they received Chinese herbal medicine (CHM) according to the Diagnosis and Treatment Protocol. The non-exposure group received only conventional western medicine, while the exposure group additionally received differentiated CHM for at least five consecutive days. Outcomes were compared between two patient groups, including cough resolution rate, sputum resolution rate (assessed by volume, color, and consistency), incidence of abnormal C-reactive protein (CRP), incidence of abnormal white blood cell (WBC) count, and radiographic resolution rate of pulmonary infiltrates on chest imaging. Multivariable logistic regression was performed to identify factors influencing clinical efficacy. Subgroup analyses were conducted according to age, gender, smoking status, history of hypertension, and pneumonia severity score (CURB-65), and the efficacy of treatment for cough and sputum was analyzed within each subgroup. Cost-effectiveness analysis was conducted using cough resolution rate as the outcome measure, evaluating the pharmacoeconomics of the two groups. ResultsA total of 1688 patients were included with 1293 in the exposure group and 395 in the non-exposure group. Compared to the non-exposure group, the exposure group demonstrated significantly higher resolution rates of cough, sputum volume, color, and consistency, as well as a significantly lower incidence of abnormal CRP (P<0.05). No statistically significant difference was observed between the groups in terms of abnormal WBC count and radiographic resolution rate of pulmonary infiltrates (P>0.05). Logistic regression analysis showed that the cough resolution rate in the exposure group was 1.83 times that of the non-exposure group, while the probabilities of resolution in sputum volume, color, and consistency were 1.37, 2.09, and 1.56 times those of the non-exposure group, respectively (P<0.05). Subgroup analyses showed that the exposure group achieved significantly higher cough resolution rates across most subgroups except for populations with a CURB-65 score ≥2 or those with a history of hypertension (P<0.05). Specifically, among females, patients aged ≥18 and <65 years, non-smokers, those without hypertension, and those with a CURB-65 score of 0, the exposure group showed a higher cough resolution rate than the non-exposure group (P<0.05). From an economic perspective, total hospitalization cost, length of stay, antibiotic cost, and CHM cost all differed significantly between groups (P<0.05). The cost-effectiveness ratio (CER) was 10,788.80 CNY/case in the exposure group, while 22,513.80 CNY/case in the non-exposure group. This implies that, compared with the exposure group, the non-exposure group incurred an additional 17,302.27 CNY to achieve one case of cough resolution. When the willingness-to-pay threshold ranged from 0 to 50,000 CNY, the probability of economic advantage was consistently higher in the exposure group than in the non-exposure group. ConclusionOn the basis of conventional western medicine, the addition of CHM in accordance with the Diagnosis and Treatment Protocol can effectively improve clinical symptoms, reduce inflammatory markers, promote clinical recovery, and is more cost-effective in treating adults with non-severe CAP.
6.Efficacy and Economic Evaluation of Weishi Qingjin Formula (苇石清金方)in the Treatment of Adult Community-Acquired Pneumonia with Phlegm-Heat Obstructing the Lung Syndrome:A Multicenter Retrospective Real-World Cohort Study
Yeqing JI ; Ye MA ; Zhichao WANG ; Fanchao FENG ; Mingzhi PU ; Hong LYU ; Xiaodong HU ; Gaohua FENG ; Xiaoqian FANG ; Guicai ZHANG ; Yanfen TANG ; Yeqing ZHANG ; Yao ZHUFU ; Wenpan PENG ; Hao WANG ; Cheng GU ; Zhichao ZHANG ; Shuang YANG ; Xinyu SUN ; Qi ZHAO ; Aojie GUO ; Xin TONG ; Zhuoyue WU ; Xiaoxiao WANG ; Jia LIU ; Hailang HE ; Xianmei ZHOU
Journal of Traditional Chinese Medicine 2026;67(9):975-984
ObjectiveTo observe the real‑world effectiveness and economic outcomes of Weishi Qingjin Formula (苇石清金方, WQF) in the treatment of adult community‑acquired pneumonia (CAP) with phlegm‑heat obstructing the lung syndrome. MethodsBased on a multicenter, real-world retrospective cohort study, clinical data were collected from hospitalized adult patients diagnosed with non‑severe CAP and phlegm‑heat obstructing the lung syndrome in 10 traditional Chinese medicine (TCM) hospitals in Jiangsu province. Patients were divided into an exposure group (those who received oral WQF) and a non‑exposure group (those who did not). The following outcomes were compared between the two groups before and after treatment, which were remission rates of clinical symptoms including cough, expectoration (sputum volume, color, consistency), and chest pain, levels of inflammatory markers including C‑reactive protein (CRP) and white blood cell count (WBC), and the rate of pulmonary inflammatory absorption on chest CT. Subgroup analyses were performed based on age, gender, smoking status, presence of hypertension, and the severity of community-acquired pneumonia (CURB‑65) score, comparing the two groups in terms of cough remission rate, chest pain remission rate, and chest CT absorption rate. For health economic evaluation, cost‑effectiveness analysis was used to calculate the cost‑effectiveness ratio (CER) and incremental cost‑effectiveness ratio (ICER). Univariate sensitivity analysis and probabilistic sensitivity analysis were performed to test the robustness of the results. ResultsA total of 647 patients in the exposure group and 1491 patients in the non-exposure group were included in the final statistical analysis. There was no statistically significant difference in length of hospital stay, gender, marital status, smoking history, bronchoscopy history, and comorbidities between the groups (P>0.05), but age, CURB-65 score, and antibiotic use. The exposure group had significantly higher remission rates of cough and sputum consistency than the non-exposure group (P<0.05). After adjusting for confounders using propensity score matching and logistic regression, the cough remission rate in the exposure group was 1.49 times that of the non-exposure group (P<0.01). No significant difference was observed between groups in the reduction rates of CRP and WBC, and in the rate of pulmonary inflammatory absorption on chest CT (P>0.05). Subgroup analyses revealed that the cough remission rate in the exposure group was significantly better than that in the non-exposure group except for patients aged ≥65 years, smokers, hypertensive patients, those using other type antibiotics or not using antibiotics, and those with a CURB-65 score ≥1 (P<0.05). Among smokers, the chest pain remission rate in the exposure group was 4.38 times that of the non-exposure group (P<0.01). No significant difference in chest CT absorption rate was found between groups across subgroups of gender, age, hypertension status, or antibiotic type (P>0.05). In terms of economic evaluation, CER was 10,877.60 CNY/case in the exposure group and 16,773.10 CNY/case in the non-exposure group. Compared to the exposure group, the non-exposure group incurred an additional 15,034.26 CNY to achieve one case of cough resolution, indicating a more favorable cost-effectiveness profile. Probabilistic sensitivity analysis yielded results consistent with the cost-effectiveness analysis, confirming the robustness of the findings. ConclusionWQF demonstrates significant efficacy in improving cough symptoms in the treatment of adult CAP with phlegm-heat obstructing the lung syndrome, and also exhibits favorable economic benefits.
7.Characteristics of Traditional Chinese Medicine Syndromes and Their Correlation with Ocular Manifestations in Chronic Hepatitis B Complicated by Metabolic Dysfunction-associated Fatty Liver Disease
Jingdong CUI ; Dingqi LI ; Yichen PENG ; Xiaoxiao DENG ; Zhenglong ZHENG ; Zilin XIONG ; Haiyang HU ; Peijie WU ; Yuelian WANG ; Liang HUANG ; Quansheng FENG ; Baixue LI
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(14):144-154
ObjectiveThis paper aims to investigate the traditional Chinese medicine syndrome types in patients with chronic hepatitis B (CHB) complicated by metabolic dysfunction-associated fatty liver disease (MAFLD) and explore the correlations between these syndrome types and clinical indicators, as well as ocular manifestation characteristics, thereby providing a reference for syndrome differentiation and treatment strategies in traditional Chinese medicine. MethodsGeneral data, information from the four diagnostic methods of traditional Chinese medicine, clinical indicators, and ocular manifestation data were collected from 506 patients with CHB complicated by MAFLD enrolled at the Public Health Clinical Center of Chengdu between June 2024 and December 2024. Cluster analysis, principal component analysis, and complex network models were employed to identify the distribution patterns of traditional Chinese medicine syndromes. Correlations between different syndrome types and clinical indicators, as well as ocular manifestation characteristics, were further analyzed. ResultsThe predominant syndromes identified in patients with CHB complicated by MAFLD were dampness and heat accumulation (51.58%), liver depression with spleen deficiency (31.62%), blood stasis obstructing collaterals (8.89%), and Qi-Yin deficiency (7.91%). No statistically significant differences were found among the four syndrome types in routine blood tests and liver function indicators. However, patients with the dampness and heat accumulation type exhibited significantly higher levels of total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), liver stiffness measurement (LSM), controlled attenuation parameter (CAP), and alpha-fetoprotein (AFP), along with lower levels of high-density lipoprotein cholesterol (HDL-C), compared with those with other syndrome types. Regarding ocular manifestations, the incidence of moon halo signs was significantly higher in patients with the blood stasis obstructing collaterals type than in those with other syndrome types. Additionally, the incidence in scleral zone 3 (corresponding to the large intestine) was higher in patients with the damp and heat accumulation type. ConclusionDampness and heat accumulation is the core syndrome type in patients with CHB complicated by MAFLD, commonly accompanied by spleen deficiency, liver depression, blood stasis, and Yin deficiency. A complex syndrome pattern characterized by a predominance of dampness and heat, along with a mixture of deficiency and excess, is formed. Different traditional Chinese medicine syndrome types are associated with distinct clinical indicators and ocular manifestation characteristics. Among them, patients with the dampness and heat accumulation type exhibit more pronounced metabolic disturbances and liver injury, whereas those with the blood stasis type show a higher incidence of moon halo signs. Abnormalities in scleral zone 3 are also more prevalent in patients with dampness and heat type.
8.Carrier screening and prenatal diagnosis analysis of high-risk cases in 3 044 preconception and early pregnancy couples
Xiaolin FU ; Wei HOU ; Manli ZHANG ; Xiaoxiao XIE ; Yan MENG ; Honghui ZHOU ; Qingdong ZHAO ; Jialin HU ; Guiping MO ; Yanping LU
Chinese Journal of Obstetrics and Gynecology 2025;60(3):161-170
Objective:To carry out carrier screening among people of childbearing age, detect the pathogenic genes of monogenic genetic diseases and analyze the carrier status of pathogenic variants, so as to provide fertility guidance and intervention measures for high-risk families.Methods:From August 2022 to August 2023, 1 533 families of childbearing age who met the criteria were recruited in the Chinese PLA General Hospital, including a total of 3 044 subjects. According to the standard enrollment procedure, 223 genes (197 autosomal recessive genes and 26 X-linked genes) of the subjects were tested. According to the screening results, genetic counseling and fertility guidance were provided to the subjects. Invasive prenatal diagnosis was performed for high-risk couples (both couples being carriers of the same autosomal recessive disease gene or the woman was a carrier of X-linked disease gene), and their pregnancy pattern, outcome and offspring phenotype were followed up.Results:(1) A total of 3 044 cases from 1 511 couples and women of childbearing age from 22 families were included for carrier screening. Totally 1 503 families chose simultaneous screening and 30 families chose sequential screening out of the 1 533 families. Among the 3 044 subjects, 1 603 individuals carried at least one pathogenic or likely pathogenic variant, and the overall carrier rate was 52.66% (1 603/3 044). A total of 2 292 pathogenic or likely pathogenic variants were detected, and 0.75 variants (2 292/3 044) were detected per capita. (2) The three genes with the highest carrier rates were GJB2 (8.67%, 264/3 044), CYP21A2 (3.19%, 97/3 044) and PAH (3.09%, 94/3 044). There were 32 genes with a carrier rate ≥1/200, 17 genes with a carrier rate ≥1/100, and 7 genes with a carrier rate ≥1/50. (3) Thirty-eight high-risk families were identified. After excluding G6PD gene mutation, there were 33 high-risk families, of which 25 couples were carriers of the same autosomal recessive gene, 9 women were carriers of X-linked gene, and 1 family was double high-risk couple with both autosomal recessive and X-linked gene. After further excluding the GJB2 c.109G>A mutation, 21 high-risk families were identified. Preimplantation genetic testing for monogenic disease was performed in 12 families after genetic counseling. Prenatal diagnosis was completed in 4 out of 5 high-risk families who conceived naturally. Two fetuses carried the parental variants and terminated the pregnancy, one fetus did not carry the parental variants but was induced due to trisomy 21 syndrome, and one fetus was a carrier of congenital disorders of glycosylation type 1a.Conclusions:Carrier screening effectively identifies high-risk genetic disease families and provides reproductive guidance to prevent the birth of affected children. However, establishing multidisciplinary team is essential for managing complex cases. Implementation should prioritize prenatal institutions with genetic counseling or diagnostic expertise for monogenic disorders or established referral networks.
9.The application of spectrogram in the evaluation of postoperative articulation characteristics under nasal endoscopy
Xuelai LIU ; Zhiji CHEN ; Hengxin LIU ; Hongyan FANG ; Yaqin HU ; Xiaoxiao LI ; Hongjiang CHEN
Journal of Audiology and Speech Pathology 2025;33(2):124-129
Objective To study the objective changes and effects of speech characteristics in patients with nasal endoscopic surgery,and to analyze the relationship between surgery and changes in vocal tract structure.Methods A prospective study was conducted on 45 patients who underwent nasal endoscopic surgery from June 2023 to December 2023.Among them,13 patients underwent nasal septum deviation correction surgery and/or nasal polypectomy and/or turbinate shaping surgery group(G1 group),11 patients underwent simple sinus opening surgery group(G2 group),and 21 patients underwent nasal sinus opening+nasal septum deviation correction surgery and/or nasal polypectomy and/or nasal turbinate shaping surgery group(G3 group).Spectrogram detection was completed before and 1 month after surgery.Nasal resistance(Refft value),acoustic indicators resonance peak frequency(F1-F4),bandwidth(B1-B4),difference between F1 amplitude and nasal murmur resonance peak amplitude(A1-P0),and difference between F1 and nasal murmur resonance peak amplitude(A1-P1)under different sound tasks(oral vowels,nasal vowels,and phrases and short sentences containing nasal vowels)were analyzed.Results After surgery,there was no significant change in the acoustic indicators in any of the groups,and the Refft value significantly decreased.The change in the resonance peak of oral vowels was not significant,but the bandwidth significantly decreased.A1-P1 in each group showed an upward trend after surgery,while A1-P0 showed a downward trend after surgery.Among them,A1-P1 in G1 group showed a significant increase compared to preoperative levels in/ma/,/na/,/mi/,and/ni/,and A1-P0 showed a significant decrease in/ma/and/na/compared to preoperative levels.There were statisti-cally significant differences in A1-P0 between G2 group and preoperative group in both/ma/and/na/.The A1-P1 levels in G3 group showed significant differences compared to preoperative levels in/mi/and/ni/,and A1-P0 showed significant differences compared to preoperative levels in/ma/and/na/.Conclusion Nasal endoscopic surgery may have a measurable impact on the patient's speech.The spectrogram can be used to evaluate the postoperative pronuncia-tion characteristics of nasal endoscopy,with A1-P1 being a better measurement indicator for high vowels/i/and A1-P0 being a better measurement indicator for non high vowels/a/.
10.Follow-up and re-evaluation of fetuses with chromosomal microdeletions and microduplications of uncertain significance
Can YANG ; Manli ZHANG ; Xiaoxiao XIE ; Lingyun HU ; Qingdong ZHAO ; Xiaoping WANG ; Yanqin YOU ; Shufang JIANG ; Yanping LU
Chinese Journal of Perinatal Medicine 2025;28(3):177-184
Objective:To reassess the pathogenicity of copy number variants (CNVs) involving chromosomal microdeletions and microduplications classified as variants of uncertain significance (VUS).Methods:This retrospective study analyzed 1 882 pregnant women who underwent invasive prenatal diagnosis for chromosomal microarray analysis (CMA) at the First Medical Center, Chinese PLA General Hospital between January 1, 2018, and December 31, 2022. The results were classified according to the American College of Medical Genetics and Genomics guidelines, with 82 fetuses rated as VUS selected for the study. We analyzed invasive prenatal diagnostic indications, followed up on fetal ultrasound findings, parental origin identification results, and pregnancy outcomes, and reclassified VUS CNVs based on the latest evidence. Descriptive statistical analysis was applied to the data.Results:(1) Among the 82 fetuses with VUS CNVs, prenatal diagnostic indications included fetal structural abnormalities detected by ultrasound (21 cases, 25.6%), abnormal non-invasive prenatal testing (NIPT) results (12 cases, 14.6%), high-risk serum screening (seven cases, 8.5%), advanced maternal age (≥35 years at expected delivery, 28 cases, 34.1%), and other indications (14 cases, 17.1%). Sixteen cases (19.5%) exhibited abnormal phenotypes, with seven pregnancies terminated due to severe structural abnormalities detected by prenatal ultrasound. Seventy-five live births were followed up for 25 (13-66) months. (2) Among the 82 cases, five fetuses had two VUS CNVs detected by CMA, while the remaining 77 had only one, totaling 87 VUS CNVs. Of these, 63 (72.4%) were chromosomal microduplications and 24 (27.6%) were chromosomal microdeletions. The size of the CNV segments ranged from 0.85 (0.05-5.61) Mb, with 82 segments less than 2 Mb. Parental origin identification was refused by 44 cases (53.7%), while 38 (46.3%) underwent the test, revealing eight (21.0%) de novo variants and 30 (78.9%) inherited from either parent (12 maternal and 18 paternal). (3) Among the 87 VUS CNVs, the ratings of 11 CNVs (12.6%) changed after re-evaluation. This included one 4p16.2 microdeletion and two 15q11.2 microdeletions being upgraded to pathogenic, one 16p13.11 microduplication being upgraded to likely pathogenic, one Xp22.31 microduplication and two 2q13 microdeletions being downgraded to likely benign, and four Xp22.31 microduplications being downgraded to benign. (4) Among the 16 fetuses with abnormal phenotypes, seven with prenatal abnormalities terminated pregnancies, including six with structural abnormalities and one with severe fetal growth restriction. After re-evaluation, one case was upgraded to pathogenic, while six remained VUS. Nine live births with postnatal abnormal phenotypes showed no change in classification after re-evaluation. Among the 66 cases (80.5%) without abnormal phenotypes, 10 had their classifications changed after re-evaluation. Conclusions:Fetuses with VUS CNVs often exhibit no significant abnormal phenotypes and have a relatively favorable prognosis, however, further floow-up is still needed. Parental origin identification can provide valuable insights for genetic counseling.


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