1.Detection of lung cancer driver genes by next-generation sequencing: a comparative analysis of plasma and histological/cytological samples
Siyan LIN ; Kunhe ZHANG ; Yongcong ZHANG ; Chunyang SU ; Yifeng CHEN
Chinese Journal of Pathology 2025;54(7):755-761
Objective:To compare the results of plasma samples and histological/cytological samples for detection of lung cancer driver gene by next-generation sequencing (NGS), to provide reference for sampling selection of clinical patients.Methods:A retrospective analysis was performed on 220 patients with lung cancer who were admitted to Quanzhou First Hospital in Fujian Province from May 2017 to May 2024, and NGS detection of lung cancer driver gene was performed on both plasma samples and histological/cytological samples. Histological specimens included biopsy or surgical resection of lung cancer, cervical lymph nodes and pleural metastases; the cytological specimen was pleural fluid cell wax block. Specimens were divided into plasma group (experimental group) and matched histological and cytological group (control group). Eight gene variants recommended by the guidelines were EGFR mutation, ALK rearrangement, ROS1 rearrangement, BRAF V600 mutation, RET rearrangement, MET exon 14 jump mutation, KRAS mutation, and NTRK1/2/3 rearrangement. The detection results of the two groups of specimens were compared and analyzed.Results:Among the 220 cases, 183 were adenocarcinoma, 23 were squamous cell carcinoma and 14 were non-small cell lung cancer. There were 4 cases in stage Ⅰ, 3 cases in stage Ⅱ, 24 cases in stage Ⅲ, and 189 cases in stage Ⅳ. In the plasma group, 120 cases were positive, the detection rate was 54.5%; There were 152 positive cases in the control group, the detection rate was 69.1%; the detection rate in the plasma group was lower than that in the control group ( χ2=6.12, P<0.05). The detection rate of plasma in patients with stage Ⅰ/Ⅱ/Ⅲ was 12.9% (4/31), which was significantly lower than that in stage Ⅳ (61.4%; χ2=22.10, P<0.05). In the early clinical stage (stage Ⅰ/Ⅱ) of 7 cases, 3 cases were positive in the control group, while all were negative in the plasma group. There were 24 stage Ⅲ cases, 8 were positive in the control group and 4 were positive in the plasma group. Among the positive cases in the control group, 34 were negative and 4 were not detected in the matched plasma group. In the plasma positive cases, there were 2 negative cases and 4 partial mutations were not detected in the matched control group. Among these 6 cases, 5 were treated patients, and the mean mutation abundance of corresponding plasma positive genes was 1.5%. There were 110 cases with the same positive result (the same mutation site) and 66 cases with the same negative result, with agreement rate of 80.0% (176/220). The sensitivity and specificity of the plasma group were 75.0% (114/152) and 91.7% (110/120), respectively. Conclusions:When NGS is used for lung cancer driver gene detection, the positive rate of plasma samples is lower than that of tissue/cytology samples, but the consistency rate with the latter can reach 80%, and the sensitivity is higher than 70%, which has a good clinical detection efficiency, especially for patients with non-small cell lung cancer stage Ⅳ.
2.Study of application of Common Data Model of Observational Medical Outcomes Partnership in China
Meng ZHANG ; Peng SHEN ; Zhike LIU ; Van Zandt MUI ; Jing LI ; Chao LI ; Yexiang SUN ; Junqing XIE ; Hripcsak GEORGE ; Yong CHEN ; Hongbo LIN ; Siyan ZHAN ; Feng SUN
Chinese Journal of Epidemiology 2025;46(5):907-913
Objective:To comprehensively evaluate the application of Common Data Model (CDM) of Observational Medical Outcomes Partnership (OMOP) in China, and provide reference for the implementation of data standardization and evidence sharing in China.Methods:PubMed, Embase, Web of Science, CNKI, VIP, WanFang and SinoMed databases were used for literature retrieval to collect the research papers of OMOP CDM application for data standardization in China until March 15, 2023. The information about institutions, types and numbers of patients were extracted.Results:A total of 14 research papers, including 9 in English and 5 in Chinese, were selected. The research papers published since 2018 were collected, which focused on patients with hypertension, diabetes, and depression. A total of 12 institutions or platforms transformed data into OMOP CDM. Jiangsu Provincial People's Hospital was the first one to apply the CDM and demonstrated its feasibility in China. Additionally, the regional information system in Yinzhou District of Ningbo, Zhejiang Province, standardized the multi-dimensional data of patients with diabetes and hypertension. Based on this platform, a series of prediction models for complications in patients with diabetes were constructed. Another major database in Beijing Anding Hospital applied OMOP CDM to analyze the characteristics of patients with late-life depression and dementia.Conclusions:This study analyzed the application of OMOP CDM in China. Through in-depth analysis of specific cases, the study provided guidance for the future cross-regional evidence sharing and collaboration.
3.Distribution of respiratory pathogens in patients with pneumonia in Yinzhou,Ning-bo,2015-2024
Ziming YANG ; Shuya LI ; Xiaotong LI ; Peng SHEN ; Yexiang SUN ; Hongbo LIN ; Zhiqin JIANG ; Siyan ZHAN ; Zhike LIU
Journal of Peking University(Health Sciences) 2025;57(3):496-506
Objective:To describe the epidemiological characteristics of 22 common respiratory patho-gens in patients with pneumonia in Yinzhou,Ningbo,from January 1,2015 to December 21,2024.Methods:The test data of 22 common respiratory pathogens in patients diagnosed with pneumonia or lung infection in the Yinzhou Regional Health Information Platform from January 1,2015 to December 21,2024 were collected.The positive cases,positive rates,and positive proportions were calculated.The epidemiological characteristics were described by the year,sex,age group,season,and coronavirus disease 2019(COVID-19)pandemic period.Results:A total of 77 531 pneumonia patients were included,with 492 696 respiratory pathogen tests performed.The number of respiratory pathogen tests and positive cases of pneumonia patients in Yinzhou showed an upward trend.In the study,34.63%of the pneumo-nia patients tested positive for at least one pathogen,and the pathogen non-detection rate decreased from 79.44%in 2015 to 58.38%in 2024.The overall pathogen positive rate was 9.12%,which decreased during the COVID-19 pandemic and had not returned to the historical level after the COVID-19 pande-mic.The positive rate was highest in children aged 6-17 years(13.99%),and lowest in the elderly over 60 years(4.16%).The top 3 highest number of positive cases was Mycoplasma pneumoniae,influenza A virus,and influenza B virus;the top 3 highest positive rates of pathogen tests were Mycoplasma pneu-moniae(25.26%),rhinovirus(12.02%),and Bordetella pertussis(11.66%).The pathogen spectrum proportion in men was similar to that in women,only showing a higher ratio of Mycobacterium tuberculosis and a slightly lower ratio of Mycoplasma pneumoniae(P<0.001).Mycoplasma pneumoniae,respiratory syncytial virus,and rhinovirus infections were more common in children,while influenza virus,Mycobac-terium tuberculosis,and Streptococcus pyogenes infections were more common in adults and the elderly(P<0.001).Influenza virus and human metapneumovirus infections were more common in winter,rhi-novirus and Bordetella pertussis infections were more common in spring,and Mycoplasma pneumoniae in-fections were relatively more common in fall(P<0.001).After the COVID-19 pandemic,the propor-tions of rhinovirus,respiratory syncytial virus,and human metapneumovirus infections in the pneumonia patients increased signi-ficantly,reaching 7.53%,4.26%,and 2.25%,respectively,while the propor-tions of influenza B virus and Mycobacterium tuberculosis infections decreased to 4.14%and 2.80%,re-spectively(P<0.001).Conclusion:In the past decade,the scale of respiratory pathogen infection in the pneumonia population in Yinzhou had expanded significantly,and there were differences in distribu-tion by the year,gender,age group,and season.The respiratory pathogen spectrum in pneumonia pa-tients after the COVID-19 pandemic had a trend of diversification.
4.Application value of Jiedu Jiangtang Futan Decoction combined with acupuncture and moxibustion in treatment of patients with acute cerebral infarction complicated with diabetes(qi deficiency and blood stasis type)
Tianzhong PENG ; Xuedi HUANG ; Xingzhen LIN ; Juan YUAN ; Feng ZHOU ; Siyan HU ; Manhua ZHU
Chinese Journal of Immunology 2025;41(8):1890-1894,1900
Objective:To explore the application value of Jiedu Jiangtang Futan Decoction combined with acupuncture and moxibustion in the treatment of acute cerebral infarction patients with diabetes(qi deficiency and blood stasis type).Methods:All pa-tients with acute cerebral infarction complicated with diabetes(type of qi deficiency and blood stasis)were treated in Hongdu Tradi-tional Chinese Medicine Hospital from October 2020 to September 2022 and randomly divided into two groups,with 69 cases in each group.The control group was treated with conventional western medicine,and the observation group was treated with Jiedu Jiangtang Futan Decoction and acupuncture and moxibustion,and the efficacy was compared after two weeks of treatment.Results:Compared with before treatment,the serum levels of superoxide dismutase(SOD),vascular endothelial growth factor(VEGF)and brain-derived neurotrophic factor(BDNF)were increased in the two groups after treatment.The levels of serum matrix metalloproteinase-9(MMP-9),IL-6,fasting blood glucose(FBG),2-hour postprandial glucose(2 h PG)and glycated hemoglobin(HbA1c)were decreased.The Barthel index(BI)was increased,and the modified Rankin score(mRS)and National Institutes of Health Stroke Scale(NIHSS)were decreased(P<0.05).Compared with the control group,the levels of SOD,VEGF,BDNF and other indicators in the observation group were higher after treatment.The levels of MMP-9,IL-6,FBG,2 h PG and HbA1c were lower.BI was higher,mRS and NIHSS were lower,the difference were statistically significant(P<0.05).The total effective rate in the observation group was 94.20%(65/69),higher than 84.06%(58/69)in the control group(P<0.05).Conclusion:For patients with acute cerebral infarction complicated with diabetes(type of qi deficiency and blood stasis),the combination of Jiedu Jiangtang Futan Decoction and acupuncture and moxi-bustion treatment is helpful to promote blood supply to the brain,correct the imbalance of oxidative stress,regulate blood sugar level and improve clinical efficacy.
5.Study of application of Common Data Model of Observational Medical Outcomes Partnership in China
Meng ZHANG ; Peng SHEN ; Zhike LIU ; Van Zandt MUI ; Jing LI ; Chao LI ; Yexiang SUN ; Junqing XIE ; Hripcsak GEORGE ; Yong CHEN ; Hongbo LIN ; Siyan ZHAN ; Feng SUN
Chinese Journal of Epidemiology 2025;46(5):907-913
Objective:To comprehensively evaluate the application of Common Data Model (CDM) of Observational Medical Outcomes Partnership (OMOP) in China, and provide reference for the implementation of data standardization and evidence sharing in China.Methods:PubMed, Embase, Web of Science, CNKI, VIP, WanFang and SinoMed databases were used for literature retrieval to collect the research papers of OMOP CDM application for data standardization in China until March 15, 2023. The information about institutions, types and numbers of patients were extracted.Results:A total of 14 research papers, including 9 in English and 5 in Chinese, were selected. The research papers published since 2018 were collected, which focused on patients with hypertension, diabetes, and depression. A total of 12 institutions or platforms transformed data into OMOP CDM. Jiangsu Provincial People's Hospital was the first one to apply the CDM and demonstrated its feasibility in China. Additionally, the regional information system in Yinzhou District of Ningbo, Zhejiang Province, standardized the multi-dimensional data of patients with diabetes and hypertension. Based on this platform, a series of prediction models for complications in patients with diabetes were constructed. Another major database in Beijing Anding Hospital applied OMOP CDM to analyze the characteristics of patients with late-life depression and dementia.Conclusions:This study analyzed the application of OMOP CDM in China. Through in-depth analysis of specific cases, the study provided guidance for the future cross-regional evidence sharing and collaboration.
6.Application value of Jiedu Jiangtang Futan Decoction combined with acupuncture and moxibustion in treatment of patients with acute cerebral infarction complicated with diabetes(qi deficiency and blood stasis type)
Tianzhong PENG ; Xuedi HUANG ; Xingzhen LIN ; Juan YUAN ; Feng ZHOU ; Siyan HU ; Manhua ZHU
Chinese Journal of Immunology 2025;41(8):1890-1894,1900
Objective:To explore the application value of Jiedu Jiangtang Futan Decoction combined with acupuncture and moxibustion in the treatment of acute cerebral infarction patients with diabetes(qi deficiency and blood stasis type).Methods:All pa-tients with acute cerebral infarction complicated with diabetes(type of qi deficiency and blood stasis)were treated in Hongdu Tradi-tional Chinese Medicine Hospital from October 2020 to September 2022 and randomly divided into two groups,with 69 cases in each group.The control group was treated with conventional western medicine,and the observation group was treated with Jiedu Jiangtang Futan Decoction and acupuncture and moxibustion,and the efficacy was compared after two weeks of treatment.Results:Compared with before treatment,the serum levels of superoxide dismutase(SOD),vascular endothelial growth factor(VEGF)and brain-derived neurotrophic factor(BDNF)were increased in the two groups after treatment.The levels of serum matrix metalloproteinase-9(MMP-9),IL-6,fasting blood glucose(FBG),2-hour postprandial glucose(2 h PG)and glycated hemoglobin(HbA1c)were decreased.The Barthel index(BI)was increased,and the modified Rankin score(mRS)and National Institutes of Health Stroke Scale(NIHSS)were decreased(P<0.05).Compared with the control group,the levels of SOD,VEGF,BDNF and other indicators in the observation group were higher after treatment.The levels of MMP-9,IL-6,FBG,2 h PG and HbA1c were lower.BI was higher,mRS and NIHSS were lower,the difference were statistically significant(P<0.05).The total effective rate in the observation group was 94.20%(65/69),higher than 84.06%(58/69)in the control group(P<0.05).Conclusion:For patients with acute cerebral infarction complicated with diabetes(type of qi deficiency and blood stasis),the combination of Jiedu Jiangtang Futan Decoction and acupuncture and moxi-bustion treatment is helpful to promote blood supply to the brain,correct the imbalance of oxidative stress,regulate blood sugar level and improve clinical efficacy.
7.Distribution of respiratory pathogens in patients with pneumonia in Yinzhou,Ning-bo,2015-2024
Ziming YANG ; Shuya LI ; Xiaotong LI ; Peng SHEN ; Yexiang SUN ; Hongbo LIN ; Zhiqin JIANG ; Siyan ZHAN ; Zhike LIU
Journal of Peking University(Health Sciences) 2025;57(3):496-506
Objective:To describe the epidemiological characteristics of 22 common respiratory patho-gens in patients with pneumonia in Yinzhou,Ningbo,from January 1,2015 to December 21,2024.Methods:The test data of 22 common respiratory pathogens in patients diagnosed with pneumonia or lung infection in the Yinzhou Regional Health Information Platform from January 1,2015 to December 21,2024 were collected.The positive cases,positive rates,and positive proportions were calculated.The epidemiological characteristics were described by the year,sex,age group,season,and coronavirus disease 2019(COVID-19)pandemic period.Results:A total of 77 531 pneumonia patients were included,with 492 696 respiratory pathogen tests performed.The number of respiratory pathogen tests and positive cases of pneumonia patients in Yinzhou showed an upward trend.In the study,34.63%of the pneumo-nia patients tested positive for at least one pathogen,and the pathogen non-detection rate decreased from 79.44%in 2015 to 58.38%in 2024.The overall pathogen positive rate was 9.12%,which decreased during the COVID-19 pandemic and had not returned to the historical level after the COVID-19 pande-mic.The positive rate was highest in children aged 6-17 years(13.99%),and lowest in the elderly over 60 years(4.16%).The top 3 highest number of positive cases was Mycoplasma pneumoniae,influenza A virus,and influenza B virus;the top 3 highest positive rates of pathogen tests were Mycoplasma pneu-moniae(25.26%),rhinovirus(12.02%),and Bordetella pertussis(11.66%).The pathogen spectrum proportion in men was similar to that in women,only showing a higher ratio of Mycobacterium tuberculosis and a slightly lower ratio of Mycoplasma pneumoniae(P<0.001).Mycoplasma pneumoniae,respiratory syncytial virus,and rhinovirus infections were more common in children,while influenza virus,Mycobac-terium tuberculosis,and Streptococcus pyogenes infections were more common in adults and the elderly(P<0.001).Influenza virus and human metapneumovirus infections were more common in winter,rhi-novirus and Bordetella pertussis infections were more common in spring,and Mycoplasma pneumoniae in-fections were relatively more common in fall(P<0.001).After the COVID-19 pandemic,the propor-tions of rhinovirus,respiratory syncytial virus,and human metapneumovirus infections in the pneumonia patients increased signi-ficantly,reaching 7.53%,4.26%,and 2.25%,respectively,while the propor-tions of influenza B virus and Mycobacterium tuberculosis infections decreased to 4.14%and 2.80%,re-spectively(P<0.001).Conclusion:In the past decade,the scale of respiratory pathogen infection in the pneumonia population in Yinzhou had expanded significantly,and there were differences in distribu-tion by the year,gender,age group,and season.The respiratory pathogen spectrum in pneumonia pa-tients after the COVID-19 pandemic had a trend of diversification.
8.Detection of lung cancer driver genes by next-generation sequencing: a comparative analysis of plasma and histological/cytological samples
Siyan LIN ; Kunhe ZHANG ; Yongcong ZHANG ; Chunyang SU ; Yifeng CHEN
Chinese Journal of Pathology 2025;54(7):755-761
Objective:To compare the results of plasma samples and histological/cytological samples for detection of lung cancer driver gene by next-generation sequencing (NGS), to provide reference for sampling selection of clinical patients.Methods:A retrospective analysis was performed on 220 patients with lung cancer who were admitted to Quanzhou First Hospital in Fujian Province from May 2017 to May 2024, and NGS detection of lung cancer driver gene was performed on both plasma samples and histological/cytological samples. Histological specimens included biopsy or surgical resection of lung cancer, cervical lymph nodes and pleural metastases; the cytological specimen was pleural fluid cell wax block. Specimens were divided into plasma group (experimental group) and matched histological and cytological group (control group). Eight gene variants recommended by the guidelines were EGFR mutation, ALK rearrangement, ROS1 rearrangement, BRAF V600 mutation, RET rearrangement, MET exon 14 jump mutation, KRAS mutation, and NTRK1/2/3 rearrangement. The detection results of the two groups of specimens were compared and analyzed.Results:Among the 220 cases, 183 were adenocarcinoma, 23 were squamous cell carcinoma and 14 were non-small cell lung cancer. There were 4 cases in stage Ⅰ, 3 cases in stage Ⅱ, 24 cases in stage Ⅲ, and 189 cases in stage Ⅳ. In the plasma group, 120 cases were positive, the detection rate was 54.5%; There were 152 positive cases in the control group, the detection rate was 69.1%; the detection rate in the plasma group was lower than that in the control group ( χ2=6.12, P<0.05). The detection rate of plasma in patients with stage Ⅰ/Ⅱ/Ⅲ was 12.9% (4/31), which was significantly lower than that in stage Ⅳ (61.4%; χ2=22.10, P<0.05). In the early clinical stage (stage Ⅰ/Ⅱ) of 7 cases, 3 cases were positive in the control group, while all were negative in the plasma group. There were 24 stage Ⅲ cases, 8 were positive in the control group and 4 were positive in the plasma group. Among the positive cases in the control group, 34 were negative and 4 were not detected in the matched plasma group. In the plasma positive cases, there were 2 negative cases and 4 partial mutations were not detected in the matched control group. Among these 6 cases, 5 were treated patients, and the mean mutation abundance of corresponding plasma positive genes was 1.5%. There were 110 cases with the same positive result (the same mutation site) and 66 cases with the same negative result, with agreement rate of 80.0% (176/220). The sensitivity and specificity of the plasma group were 75.0% (114/152) and 91.7% (110/120), respectively. Conclusions:When NGS is used for lung cancer driver gene detection, the positive rate of plasma samples is lower than that of tissue/cytology samples, but the consistency rate with the latter can reach 80%, and the sensitivity is higher than 70%, which has a good clinical detection efficiency, especially for patients with non-small cell lung cancer stage Ⅳ.
9.Application of crisaborole ointment in dermatology
Siyan YANG ; Lin MA ; Bin ZHANG
Chinese Journal of Dermatology 2024;57(10):962-966
Crisaborole, a phosphodiesterase-4 inhibitor, has been approved for the treatment of mild to moderate atopic dermatitis in China. In addition, crisaborole ointment has been reported for the successful treatment of other inflammatory skin disorders. This review summarizes mechanisms of action of crisaborole and its application to the treatment of atopic dermatitis, psoriasis, vitiligo, seborrheic dermatitis, inflammatory linear verrucous epidermal nevus, lichen simplex chronicus, prurigo pigmentosa, alopecia areata, plasma cell balanitis, and lichen planus.
10.Clinical features of five cases of 17q12 microdeletion
Chunqiang LIU ; Siyan LIN ; Qianmei ZHUANG ; Wanyu FU ; Linjun CHEN ; Baojia HUANG
Chinese Journal of Perinatal Medicine 2024;27(5):406-410
Objective:To investigate the clinical features of 17q12 microdeletion cases before and after delivery, and provide a reference for prenatal diagnosis and genetic counseling.Methods:A retrospective analysis was conducted on five fetuses diagnosed with 17q12 microdeletion by single nucleotide polymorphism array in Quanzhou Women's and Children's Hospital between April 2020 and June 2023. Clinical data including prenatal ultrasonography findings, genetic causes, parental clinical features, and postnatal outcomes were summarized and analyzed using descriptive statistical analysis.Results:The five fetuses had normal results of karyotype analysis of amniotic fluid, but carried a microdeletion of 1.4 to 1.8 Mb in the 17q12 region of the chromosome, involving 20 genes listed in the Online Mendelian Inheritance in Man database. Pedigree verification was performed on all five cases and the results indicated one maternally inherited case with the mother having polycystic kidneys complicated by left hydronephrosis, one de novo case, and three paternally inherited cases with one father having multiple cysts in both kidneys and two fathers showing no abnormalities. Multiple abnormalities were found in the five fetuses by prenatal ultrasonography, including enhanced renal parenchymal echogenicity in four cases and pyelectasis in one case. Two cases chose to terminate the pregnancies, while the other three continued the pregnancies to full term. Postnatal follow-ups showed that one case was normal in growth and development with no abnormalities by renal ultrasound; one case developed polycystic kidney; one case with normal renal ultrasound findings had a speech disorder and symptoms of suspected autism at the age of three. Conclusions:The main manifestation of 17q12 microdeletion is enhanced renal parenchymal echogenicity in the fetal stage and postnatal polycystic kidney. In prenatally diagnosed cases, pedigree verification is necessary as an objective and scientific genetic counseling is helpful in pregnancy decision-making.

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