1.Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction
Yulong TONG ; Hong PAN ; Li YU ; Jie FU ; Xueyin WANG ; Hairong WU ; Lin LI ; Yinan MA ; Huixia YANG
Chinese Journal of Perinatal Medicine 2025;28(3):203-210
Objective:To explore the value of chromosomal microarray analysis (CMA) in the genetic diagnosis of different types of fetal growth restriction (FGR).Methods:A retrospective analysis was conducted on 120 cases who were diagnosed with FGR by ultrasound and underwent prenatal diagnosis at the Department of Obstetrics & Gynecology and Reproductive Medicine, Peking University First Hospital, from January 2016 to December 2021. The cases were divided into three groups based on the gestational age at the first diagnosis:<28 weeks (40 cases), 28-31 +6 weeks (65 cases), and ≥32 weeks (15 cases). They were also categorized into isolated and non-isolated FGR based on the presence of other ultrasound abnormalities (69 and 51 cases in each). Chromosomal karyotype analysis and CMA were conducted on all patients. The prenatal diagnosis results were analyzed, as well as the detection of chromosomal abnormalities in different gestational age groups and types of FGR. Statistical analysis was performed using Fisher's exact test. Results:(1) A total of 14 abnormalities were detected by CMA and four cases were detected by chromosomal karyotype analysis. The abnormal detection rate of CMA was higher than that of chromosomal karyotype analysis [11.7% (14/120) vs. 3.3% (4/120), P=0.025]. Among the total 14 cases of chromosomal abnormalities, there were seven pathogenic copy number variations (CNVs) and four variants of unknown significance (VUS), as well as two cases of trisomy-18 and one case of Turner syndrome. Among the 14 cases, eight had associated ultrasound abnormalities. Eleven of the 14 cases opted for induced abortion; three continued pregnancy to delivery, with two neonates showing no abnormalities and one exhibiting slightly delayed physical development. Both methods detected three cases of aneuploidy mnumber abnormalities (2.5%, 3/120) For chromosomal abnormalities <10 Mb, the detection rate of CMA was higher than that of chromosomal karyotype analysis [9.2% (11/120) vs. 0.8% (1/120), Fisher's exact, P=0.005]. Both methods detected one case of <10 Mb CNV, while CMA alone detected ten cases of <10 Mb microdeletions/microduplications (8.3%, 10/120), including six cases of pathogenic CNVs and four cases of VUS. (2) Among the 40 cases in the <28 weeks group, six cases (15.0%) of chromosomal abnormalities were detected, including three cases of aneuploidy, two cases of pathogenic CNVs, and one case of VUS. Among the 65 cases in the 28-31 +6 weeks group, seven cases (10.8%) of chromosomal abnormalities were detected, including five cases of pathogenic CNVs and two cases of VUS. Of the 15 cases in the ≥32 weeks group, one case of chromosomal abnormality was detected, which was VUS. (3) No statistically significant difference was found in the detection rate of chromosomal abnormalities between the isolated FGR and the non-isolated FGR groups [8.7%(6/69) vs. 15.7%(8/51), Fisher's exact, P=0.263]. (4) After excluding the ≥32 weeks non-isolated FGR group (only one case), the <28 weeks non-isolated FGR group had the highest detection rate of chromosomal abnormalities (1/18), while no abnormalities were detected in the ≥32 weeks isolated FGR group. Conclusions:Among FGR fetuses, the highest detection rates of chromosomal abnormalities are found in early-onset and non-isolated FGR. Prenatal diagnosis with CMA testing can significantly improve the detection rate of genetic causes in various types of FGR fetuses.
2.Advances in pharmacogenomics for the treatment of type 2 diabetes
Yulong MA ; Yalong LI ; Xiaoxia HU ; Gengxue JING ; Xinyue LIU
International Journal of Laboratory Medicine 2025;46(3):349-353
Hypoglycemic drugs are an important means of treatment for patients with type 2 diabetes.However,poor,ineffective and even adverse drug reactions often occur in clinical treatment.With the develop-ment of pharmacogenomics,the link between individual genetic variation and drug dose and treatment re-sponse is becoming clearer,resulting in better efficacy and fewer adverse reactions for patients.This article fo-cuses on hypoglycemic drugs and reviews the latest advances in pharmacogenomics,so as to provide references for individualized treatment of type 2 diabetes and prevention of corresponding complications until the realiza-tion of precision medicine
3.Analysis of radiosensitivity indicators for radiation workers at a nuclear power plant
Nan MA ; Junchao FENG ; Yulong LIU ; Jie LI ; Yu GAO
Chinese Journal of Radiological Health 2025;34(2):264-269
Objective To analyze the health effects of long-term occupational exposure to ionizing radiation on radiation workers in a nuclear power plant, and to provide a scientific basis for their occupational health monitoring. Methods In 2023, 183 radiation workers in a nuclear power plant were subjected to the analysis of blood cell parameters such as mean red blood cell count, white blood cell count (WBC), lymphocyte count, and hemoglobin count, thyroid function indicators such as serum triiodothyronine, thyroxine, and thyrotropin, as well as the chromosomal aberration rate and micronucleus rate of the lymphocytes in the peripheral blood. Results The blood cell parameters, thyroid function indicators, chromosomal aberration rate, and micronucleus rate of these radiation workers in the nuclear power plant were within normal reference ranges. Comparison among radiation workers with different ages showed statistically significant differences in triiodothyronine (H = 6.98, P < 0.05) and micronucleus rate (H = 48.44, P < 0.05). Among the three groups of radiation workers with different working years, WBC was significantly different (χ2 = 3.87, P < 0.05), with the lowest WBC observed in radiation workers with ≥ 20 years of service. Thyroxine (χ2 = 4.01, P < 0.05) and micronucleus rate (H = 40.95, P < 0.05) also varied significantly among these three groups. Conclusion Thyroid triiodothyronine level and micronucleus rate were affected by age, while WBC, thyroid thyroxine level, and micronucleus rate were related to working years. Targeted health management should be carried out for radiation workers in nuclear power plants to improve the awareness of radiation protection and continuously enhance their health status.
4.Expert consensus on visualized tele-round and quality control management based on the improvement of clinical practice ability
Wanhong YIN ; Xiaoting WANG ; Ran ZHOU ; Dawei LIU ; Yan KANG ; Yaoqing TANG ; Xiaochun MA ; Jianguo LI ; Zhenjie HU ; Haitao ZHANG ; Wei HE ; Lixia LIU ; Wenjin CHEN ; Ran ZHU ; Jun WU ; Hongmin ZHANG ; Lina ZHANG ; Wenzhao CHAI ; Shihong ZHU ; Wangbin XU ; Rongqing SUN ; Xiangyou YU ; Tianjiao SONG ; Ying ZHU ; Hong REN ; Ai SHANMU ; Qing ZHANG ; Wei FANG ; Xiuling SHANG ; Liwen LYU ; Shuhan CAI ; Xin DING ; Heng ZHANG ; Guang FENG ; Lipeng ZHANG ; Bo HU ; Dong ZHANG ; Weidong WU ; Feng SHEN ; Xiaojun YANG ; Zhenguo ZENG ; Qibing HUANG ; Xueying ZENG ; Tongjuan ZOU ; Milin PENG ; Yulong YAO ; Mingming CHEN ; Hui LIAN ; Jingmei WANG ; Yong LI ; Feng QU ; Gang YE ; Rongli YANG ; Xiukai CHEN ; Suwei LI ; Juxiang WANG ; Yangong CHAO
Chinese Journal of Internal Medicine 2025;64(2):101-109
Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.
5.Researches on central post-stroke pain:a bibliometric analysis
Xinyue ZHOU ; Ruixue YE ; Yaqi MA ; Ying XU ; Longyao CAO ; Yulong WANG
Chinese Journal of Rehabilitation Theory and Practice 2025;31(9):1038-1049
Objective To analyze the research status,hotspots and development trends in the field of central post-stroke pain(CPSP).Methods Relevant literatures up to April 8,2025 were retrieved from the Web of Science Core Collection database.CiteSpace 6.4.R1 advanced version was used for bibliometric and visualization analysis of publication trends,country/institution/author collaboration networks,keywords and burst terms.Results A total of 119 publications were included.Researches on CPSP have shown an overall upward trend since 2002,which could be divided into a slow development period(from 2002 to 2015)and a rapid growth period(from 2016 onwards).The number of published papers reached its peak in 2024.China and the United States led in pub-lication volume.Harvard University was the most productive institution,and Asian institutions contributed a sig-nificant number of publications.The most prolific author was Gao Ju.The top five keywords by co-occurrence frequency were central post-stroke pain,neuropathic pain,pathophysiology,transcranial magnetic stimulation and motor cortex stimulation.Keyword clustering analysis generated ten clusters,which were integrated into four core research areas:pain types,clinical characteristics and diagnostic techniques,pathophysiological mecha-nisms,and treatment strategies.The bursting words included spinal cord and molecular expression in recent years;pathophysiology was the most bursting word.Conclusion In recent years,researches on CPSP are significantly increasing,focusing on pathophysiological mecha-nisms and intervention strategies.Future studies should strengthen the integration of basic and clinical research,promote multidisciplinary collaboration,and enhance research quality.
6.Macrophage polarization mechanisms of diabetic foot ulcer and its targeted therapy
Yulong MA ; Yalong LI ; Xiaoxia HU ; Wenting LENG ; Xinyue LIU
Chinese Journal of Nosocomiology 2025;35(9):1429-1434
As one of the most common and severe complications of diabetic mellitus,diabetic foot ulcers(DFUs)can result in severe tissue damage and dysfunction.Macrophage polarization is an important immune reactions,and the balance of macrophage polarization has remarkable impact on the occurrence,persistence and outcomes of inflammatory reactions.The imbalance of macrophage polarization may aggravate the inflammatory reactions of the diabetic mellitus patients,which therefore exacerbate the symptoms of the DFUs patients and bring more diffi-culties to the treatment.The adjustment of macrophage polarization may facilitate the improvement of symptoms and treatment.The influencing factors for the macrophage polarization and some of potential treatment measures for DFUs targeting the adjustment of macrophage polarization were reviewed in the article.
7.Macrophage polarization mechanisms of diabetic foot ulcer and its targeted therapy
Yulong MA ; Yalong LI ; Xiaoxia HU ; Wenting LENG ; Xinyue LIU
Chinese Journal of Nosocomiology 2025;35(9):1429-1434
As one of the most common and severe complications of diabetic mellitus,diabetic foot ulcers(DFUs)can result in severe tissue damage and dysfunction.Macrophage polarization is an important immune reactions,and the balance of macrophage polarization has remarkable impact on the occurrence,persistence and outcomes of inflammatory reactions.The imbalance of macrophage polarization may aggravate the inflammatory reactions of the diabetic mellitus patients,which therefore exacerbate the symptoms of the DFUs patients and bring more diffi-culties to the treatment.The adjustment of macrophage polarization may facilitate the improvement of symptoms and treatment.The influencing factors for the macrophage polarization and some of potential treatment measures for DFUs targeting the adjustment of macrophage polarization were reviewed in the article.
8.Researches on central post-stroke pain:a bibliometric analysis
Xinyue ZHOU ; Ruixue YE ; Yaqi MA ; Ying XU ; Longyao CAO ; Yulong WANG
Chinese Journal of Rehabilitation Theory and Practice 2025;31(9):1038-1049
Objective To analyze the research status,hotspots and development trends in the field of central post-stroke pain(CPSP).Methods Relevant literatures up to April 8,2025 were retrieved from the Web of Science Core Collection database.CiteSpace 6.4.R1 advanced version was used for bibliometric and visualization analysis of publication trends,country/institution/author collaboration networks,keywords and burst terms.Results A total of 119 publications were included.Researches on CPSP have shown an overall upward trend since 2002,which could be divided into a slow development period(from 2002 to 2015)and a rapid growth period(from 2016 onwards).The number of published papers reached its peak in 2024.China and the United States led in pub-lication volume.Harvard University was the most productive institution,and Asian institutions contributed a sig-nificant number of publications.The most prolific author was Gao Ju.The top five keywords by co-occurrence frequency were central post-stroke pain,neuropathic pain,pathophysiology,transcranial magnetic stimulation and motor cortex stimulation.Keyword clustering analysis generated ten clusters,which were integrated into four core research areas:pain types,clinical characteristics and diagnostic techniques,pathophysiological mecha-nisms,and treatment strategies.The bursting words included spinal cord and molecular expression in recent years;pathophysiology was the most bursting word.Conclusion In recent years,researches on CPSP are significantly increasing,focusing on pathophysiological mecha-nisms and intervention strategies.Future studies should strengthen the integration of basic and clinical research,promote multidisciplinary collaboration,and enhance research quality.
9.Expert consensus on visualized tele-round and quality control management based on the improvement of clinical practice ability
Wanhong YIN ; Xiaoting WANG ; Ran ZHOU ; Dawei LIU ; Yan KANG ; Yaoqing TANG ; Xiaochun MA ; Jianguo LI ; Zhenjie HU ; Haitao ZHANG ; Wei HE ; Lixia LIU ; Wenjin CHEN ; Ran ZHU ; Jun WU ; Hongmin ZHANG ; Lina ZHANG ; Wenzhao CHAI ; Shihong ZHU ; Wangbin XU ; Rongqing SUN ; Xiangyou YU ; Tianjiao SONG ; Ying ZHU ; Hong REN ; Ai SHANMU ; Qing ZHANG ; Wei FANG ; Xiuling SHANG ; Liwen LYU ; Shuhan CAI ; Xin DING ; Heng ZHANG ; Guang FENG ; Lipeng ZHANG ; Bo HU ; Dong ZHANG ; Weidong WU ; Feng SHEN ; Xiaojun YANG ; Zhenguo ZENG ; Qibing HUANG ; Xueying ZENG ; Tongjuan ZOU ; Milin PENG ; Yulong YAO ; Mingming CHEN ; Hui LIAN ; Jingmei WANG ; Yong LI ; Feng QU ; Gang YE ; Rongli YANG ; Xiukai CHEN ; Suwei LI ; Juxiang WANG ; Yangong CHAO
Chinese Journal of Internal Medicine 2025;64(2):101-109
Turning to critical illness is a common stage of various diseases and injuries before death. Patients usually have complex health conditions, while the treatment process involves a wide range of content, along with high requirements for doctor′s professionalism and multi-specialty teamwork, as well as a great demand for time-sensitive treatments. However, this is not matched with critical care professionals and the current state of medical care in China. Telemedicine, which shortens the distance of medical professionals and the gap of disease diagnosis and treatments in various regions through electronic information, can effectively solve the current problem. Therefore, there is an urgent need to develop a standardized, high-quality visualization telemedicine round system .Therefore, experts have been organized to search domestic and foreign literature on telemedicine round for critically ill patients and to form this consensus based on clinical experiences so as to further improve the level of critical care treatments in regions.
10.Application of chromosomal microarray analysis in prenatal diagnosis of fetal growth restriction
Yulong TONG ; Hong PAN ; Li YU ; Jie FU ; Xueyin WANG ; Hairong WU ; Lin LI ; Yinan MA ; Huixia YANG
Chinese Journal of Perinatal Medicine 2025;28(3):203-210
Objective:To explore the value of chromosomal microarray analysis (CMA) in the genetic diagnosis of different types of fetal growth restriction (FGR).Methods:A retrospective analysis was conducted on 120 cases who were diagnosed with FGR by ultrasound and underwent prenatal diagnosis at the Department of Obstetrics & Gynecology and Reproductive Medicine, Peking University First Hospital, from January 2016 to December 2021. The cases were divided into three groups based on the gestational age at the first diagnosis:<28 weeks (40 cases), 28-31 +6 weeks (65 cases), and ≥32 weeks (15 cases). They were also categorized into isolated and non-isolated FGR based on the presence of other ultrasound abnormalities (69 and 51 cases in each). Chromosomal karyotype analysis and CMA were conducted on all patients. The prenatal diagnosis results were analyzed, as well as the detection of chromosomal abnormalities in different gestational age groups and types of FGR. Statistical analysis was performed using Fisher's exact test. Results:(1) A total of 14 abnormalities were detected by CMA and four cases were detected by chromosomal karyotype analysis. The abnormal detection rate of CMA was higher than that of chromosomal karyotype analysis [11.7% (14/120) vs. 3.3% (4/120), P=0.025]. Among the total 14 cases of chromosomal abnormalities, there were seven pathogenic copy number variations (CNVs) and four variants of unknown significance (VUS), as well as two cases of trisomy-18 and one case of Turner syndrome. Among the 14 cases, eight had associated ultrasound abnormalities. Eleven of the 14 cases opted for induced abortion; three continued pregnancy to delivery, with two neonates showing no abnormalities and one exhibiting slightly delayed physical development. Both methods detected three cases of aneuploidy mnumber abnormalities (2.5%, 3/120) For chromosomal abnormalities <10 Mb, the detection rate of CMA was higher than that of chromosomal karyotype analysis [9.2% (11/120) vs. 0.8% (1/120), Fisher's exact, P=0.005]. Both methods detected one case of <10 Mb CNV, while CMA alone detected ten cases of <10 Mb microdeletions/microduplications (8.3%, 10/120), including six cases of pathogenic CNVs and four cases of VUS. (2) Among the 40 cases in the <28 weeks group, six cases (15.0%) of chromosomal abnormalities were detected, including three cases of aneuploidy, two cases of pathogenic CNVs, and one case of VUS. Among the 65 cases in the 28-31 +6 weeks group, seven cases (10.8%) of chromosomal abnormalities were detected, including five cases of pathogenic CNVs and two cases of VUS. Of the 15 cases in the ≥32 weeks group, one case of chromosomal abnormality was detected, which was VUS. (3) No statistically significant difference was found in the detection rate of chromosomal abnormalities between the isolated FGR and the non-isolated FGR groups [8.7%(6/69) vs. 15.7%(8/51), Fisher's exact, P=0.263]. (4) After excluding the ≥32 weeks non-isolated FGR group (only one case), the <28 weeks non-isolated FGR group had the highest detection rate of chromosomal abnormalities (1/18), while no abnormalities were detected in the ≥32 weeks isolated FGR group. Conclusions:Among FGR fetuses, the highest detection rates of chromosomal abnormalities are found in early-onset and non-isolated FGR. Prenatal diagnosis with CMA testing can significantly improve the detection rate of genetic causes in various types of FGR fetuses.

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