1.Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdeletion Syndrome
Yongmei SHEN ; Yaqi LI ; Xiaomin ZHAO ; Lei ZHANG ; Liying YAO ; Jiasong CAO ; Qimei LIN ; Hefei WANG ; Maolin NIE ; Rongxin WEI ; Ying CHANG
Maternal-Fetal Medicine 2025;07(3):151-156
Objective::To analyze fetal renal abnormality genetic features and the prenatal characteristics of the 17q12 microdeletion syndrome.Methods::This prospective cohort study examined prenatal ultrasound findings of renal abnormalities in pregnant women who underwent single nucleotide polymorphism (SNP) array or copy number variation sequencing (CNV-seq) testing on amniotic fluid or fetal tissue at Tianjin Central Obstetrics and Gynecology Hospital between January 2016 and August 2022. The study cohort comprised women with advanced maternal age, fetal ultrasound anomalies, high-risk non-invasive prenatal testing results, or suspected 17q12 microdeletion syndrome. Comprehensive clinical data, including maternal age, detailed ultrasound findings, and pregnancy outcomes, were systematically collected. SNP-array analysis was conducted using an Affymetrix CytoScan 750 K Array Chip to identify CNVs and loss of heterozygosity, while CNV-seq was performed on the Illumina HiSeq 2000 platform. Detected variants were classified according to the American College of Medical Genetics and Genomics guidelines. Statistical analyses were performed using SPSS version 27.0.Results::Abnormal renal development was identified in 141 patients, among whom 26 exhibited hyperechogenic kidneys (HCK). Of these, 12 cases were associated with 17q12 microdeletion syndrome, while the remaining 14 were linked to other chromosomal abnormalities. When excluding patients with HCK, those diagnosed with polycystic kidney disease demonstrated a higher prevalence of chromosomal abnormalities compared to those with multicystic dysplastic kidney and renal dysplasia. Although isolated conditions such as horseshoe kidney, hydronephrosis, ectopic kidney, and unilateral kidney typically presented with normal chromosomal findings, the incidence of chromosomal abnormalities increased when these conditions coexisted with other anomalies. A detailed analysis of the correlation between 17q12 microdeletion syndrome and HCK revealed that 12 out of the 14 patients diagnosed with 17q12 microdeletion syndrome exhibited HCK. Genetic testing confirmed the syndrome in seven patients, with five cases attributed to novel mutations and two cases resulting from inherited mutations.Conclusion::Fetal HCK was closely associated with the 17q12 microdeletion syndrome, and polycystic kidney disease showed a higher rate of chromosomal abnormalities. Chromosome test results were mostly normal in patients with other renal abnormalities, such as kidney dysplasia, horseshoe kidneys, hydronephrosis, kidney deficiency, and ectopic kidneys. Prenatal diagnosis is recommended, especially in cases of non-isolated fetal renal abnormalities. This study provides strong evidence supporting a link between fetal renal abnormalities and genetic syndromes.
2.Current status and management strategies of medical waste in Jinshan District, Shanghai
Jinzhen WANG ; Yan JIANG ; Yong JIANG ; Haojie YANG ; Guang YANG ; Lei FAN ; Lianlian NIE ; Danhong YANG
Shanghai Journal of Preventive Medicine 2025;37(4):374-377
ObjectiveTo assess the current status of medical waste management in Jinshan District of Shanghai, China, to identify existing issues, and to provide a scientific basis for formulating targeted strategies. MethodsData were collected from the routine supervision and inspection records of the Jinshan District Health Commission Supervision Institute from 2017 to 2021, covering all aspects of medical waste management, including collection, classification, transportation, storage, and administrative penalties. ResultsThe compliance rates for the establishment of institutional frameworks, staffing, internal handover, and registration in medical and healthcare institutions all exceeded 95.00%. However, only 2.31% of the medical and healthcare institutions met the 48-hour storage limit requirement for medical waste. Private institutions had significantly lower compliance rates (P<0.05) in aspects such as proper classification and collection, maintaining records for three years, adhering to the 48-hour storage limit, refraining from commercial transactions, timely disinfection and cleaning, and implementing emergency measures for waste loss. Compliance rates also varied among different types of institutions regarding the establishment of temporary storage facilities and the implementation of the transfer manifest system, with community healthcare institutions exhibiting relatively lower compliance rates (P<0.05). Over the past five years, private medical and healthcare institutions accounted for 63.33% of administrative penalty cases. ConclusionWhile medical waste management in Jinshan District, Shanghai, has gradually become more standardized, challenges remain. To address the issue of medical waste being stored for over 48 hours, medical waste transfer stations should be established to improve transfer efficiency and ensure complete waste collection. Additionally, for private and community healthcare institutions, weak links in management should be addressed by establishing medical waste quality control teams, enhancing supervision through digital tools, and optimizing management processes to comprehensively elevate medical waste management.
3.Construction of a theoretical framework for factors influencing the use of intravenous therapy specialist nurses based on grounded theory
Shengxiao NIE ; Kui SONG ; Yanfen SHEN ; Jingli KOU ; Pei WANG ; Lei LI ; Kaili ZHANG ; Hong SUN
Chinese Journal of Modern Nursing 2025;31(33):4497-4505
Objective:To explore the influencing factors of the use of intravenous therapy specialist nurses and construct a theoretical framework, so as to provide reference for developing intervention measures and improving the use of intravenous therapy specialist nurses.Methods:The grounded theory research method was used. From July to August 2024, 17 intravenous therapy managers/specialist nurses from six ClassⅢ Grade A hospitals in Beijing City and Hebei Province were selected through purposive and theoretical sampling for semi-structured interviews. NVivo 12.0 was used for data analysis, including open, axial, and selective coding.Results:A total of 79 initial concepts were extracted and summarized into 25 domains, which were consolidated into five main domains, including organizational management and support, personal characteristics and professional identity, team collaboration and communication, work performance and incentive mechanisms, and external environment and opportunities. On this basis, a theoretical framework for factors influencing the use of intravenous therapy specialist nurses was constructed.Conclusions:This study constructs a theoretical framework for factors influencing the use of intravenous therapy specialist nurses. Managers can leverage this theoretical framework to develop targeted intervention strategies that enhance the effectiveness of intravenous therapy specialist nurses and optimize the allocation of nursing human resources.
4.Research progress in targeted and immunotherapy for biliary tract cancer
Lei NIE ; Haiyan ZHANG ; Jian SHEN ; Dongde WU
Journal of Clinical Surgery 2025;33(7):775-778
Biliary tract cancer(BTC)due to its subtle early symptoms,approximately 60%-70%of patients are diagnosed at an advanced stage,limiting the effectiveness of treatment.While traditional treatment methods such as surgery and chemotherapy remain the primary approaches,their efficacy is limited by the heterogeneity of the disease and the development of resistance.Recently,targeted therapies and immunotherapy have emerged as promising strategies,showing good prospects in clinical trials.Targeted drugs addressing common genetic mutations in BTC,such as FGFR2 gene fusion,IDH1 mutations,and HER2 amplification,have shown some therapeutic efficacy.In addition,the combination of immune checkpoint inhibitors with chemotherapy has shown potential in prolonging survival.However,targeted and immunotherapy for BTC still faces challenges,and future research should focus on personalized treatment,combining genetic testing and immunotherapy to further optimize therapeutic strategies and improve patient quality of life.
5.Genetic Analysis of Prenatal Renal Abnormalities in 17q12 Microdeletion Syndrome
Yongmei SHEN ; Yaqi LI ; Xiaomin ZHAO ; Lei ZHANG ; Liying YAO ; Jiasong CAO ; Qimei LIN ; Hefei WANG ; Maolin NIE ; Rongxin WEI ; Ying CHANG
Maternal-Fetal Medicine 2025;07(3):151-156
Objective::To analyze fetal renal abnormality genetic features and the prenatal characteristics of the 17q12 microdeletion syndrome.Methods::This prospective cohort study examined prenatal ultrasound findings of renal abnormalities in pregnant women who underwent single nucleotide polymorphism (SNP) array or copy number variation sequencing (CNV-seq) testing on amniotic fluid or fetal tissue at Tianjin Central Obstetrics and Gynecology Hospital between January 2016 and August 2022. The study cohort comprised women with advanced maternal age, fetal ultrasound anomalies, high-risk non-invasive prenatal testing results, or suspected 17q12 microdeletion syndrome. Comprehensive clinical data, including maternal age, detailed ultrasound findings, and pregnancy outcomes, were systematically collected. SNP-array analysis was conducted using an Affymetrix CytoScan 750 K Array Chip to identify CNVs and loss of heterozygosity, while CNV-seq was performed on the Illumina HiSeq 2000 platform. Detected variants were classified according to the American College of Medical Genetics and Genomics guidelines. Statistical analyses were performed using SPSS version 27.0.Results::Abnormal renal development was identified in 141 patients, among whom 26 exhibited hyperechogenic kidneys (HCK). Of these, 12 cases were associated with 17q12 microdeletion syndrome, while the remaining 14 were linked to other chromosomal abnormalities. When excluding patients with HCK, those diagnosed with polycystic kidney disease demonstrated a higher prevalence of chromosomal abnormalities compared to those with multicystic dysplastic kidney and renal dysplasia. Although isolated conditions such as horseshoe kidney, hydronephrosis, ectopic kidney, and unilateral kidney typically presented with normal chromosomal findings, the incidence of chromosomal abnormalities increased when these conditions coexisted with other anomalies. A detailed analysis of the correlation between 17q12 microdeletion syndrome and HCK revealed that 12 out of the 14 patients diagnosed with 17q12 microdeletion syndrome exhibited HCK. Genetic testing confirmed the syndrome in seven patients, with five cases attributed to novel mutations and two cases resulting from inherited mutations.Conclusion::Fetal HCK was closely associated with the 17q12 microdeletion syndrome, and polycystic kidney disease showed a higher rate of chromosomal abnormalities. Chromosome test results were mostly normal in patients with other renal abnormalities, such as kidney dysplasia, horseshoe kidneys, hydronephrosis, kidney deficiency, and ectopic kidneys. Prenatal diagnosis is recommended, especially in cases of non-isolated fetal renal abnormalities. This study provides strong evidence supporting a link between fetal renal abnormalities and genetic syndromes.
6.Tumor immune dysfunction and exclusion evaluation and chemoimmunotherapy response prediction in lung adenocarcinoma using pathomic-based approach.
Wei NIE ; Liang ZHENG ; Yinchen SHEN ; Yao ZHANG ; Haohua TENG ; Runbo ZHONG ; Lei CHENG ; Guangyu TAO ; Baohui HAN ; Tianqing CHU ; Hua ZHONG ; Xueyan ZHANG
Chinese Medical Journal 2025;138(3):346-348
7.Comparison of treatment regimens for unresectable stage III epidermal growth factor receptor ( EGFR ) mutant non-small cell lung cancer.
Xin DAI ; Qian XU ; Lei SHENG ; Xue ZHANG ; Miao HUANG ; Song LI ; Kai HUANG ; Jiahui CHU ; Jian WANG ; Jisheng LI ; Yanguo LIU ; Jianyuan ZHOU ; Shulun NIE ; Lian LIU
Chinese Medical Journal 2025;138(14):1687-1695
BACKGROUND:
Durvalumab after chemoradiotherapy (CRT) failed to bring survival benefits to patients with epidermal growth factor receptor ( EGFR ) mutations in PACIFIC study (evaluating durvalumab in patients with stage III, unresectable NSCLC who did not have disease progression after concurrent chemoradiotherapy). We aimed to explore whether locally advanced inoperable patients with EGFR mutations benefit from tyrosine kinase inhibitors (TKIs) and the optimal treatment regimen.
METHODS:
We searched the PubMed, Embase, the Cochrane Central Register of Controlled Trials, and ClinicalTrials.gov databases from inception to December 31, 2022 and performed a meta-analysis based on a Bayesian framework, with progression-free survival (PFS) and overall survival (OS) as the primary endpoints.
RESULTS:
A total of 1156 patients were identified in 16 studies that included 6 treatment measures, including CRT, CRT followed by durvalumab (CRT-Durva), TKI monotherapy, radiotherapy combined with TKI (RT-TKI), CRT combined with TKI (CRT-TKI), and TKI combined with durvalumab (TKI-Durva). The PFS of patients treated with TKI-containing regimens was significantly longer than that of patients treated with TKI-free regimens (hazard ratio [HR] = 0.37, 95% confidence interval [CI], 0.20-0.66). The PFS of TKI monotherapy was significantly longer than that of CRT (HR = 0.66, 95% CI, 0.50-0.87) but shorter than RT-TKI (HR = 1.78, 95% CI, 1.17-2.67). Furthermore, the PFS of RT-TKI or CRT-TKI were both significantly longer than that of CRT or CRT-Durva. RT-TKI ranked first in the Bayesian ranking, with the longest OS (60.8 months, 95% CI = 37.2-84.3 months) and the longest PFS (21.5 months, 95% CI, 15.4-27.5 months) in integrated analysis.
CONCLUSIONS:
For unresectable stage III EGFR mutant NSCLC, RT and TKI are both essential. Based on the current evidence, RT-TKI brings a superior survival advantage, while CRT-TKI needs further estimation. Large randomized clinical trials are urgently needed to explore the appropriate application sequences of TKI, radiotherapy, and chemotherapy.
REGISTRATION
PROSPERO; https://www.crd.york.ac.uk/PROSPERO/ ; No. CRD42022298490.
Humans
;
Carcinoma, Non-Small-Cell Lung/therapy*
;
ErbB Receptors/genetics*
;
Lung Neoplasms/drug therapy*
;
Mutation/genetics*
;
Protein Kinase Inhibitors/therapeutic use*
;
Chemoradiotherapy
;
Antibodies, Monoclonal/therapeutic use*
8.Regulation of miR-21 on Foxp1 and its effect on inflammation level of allergic rhinitis-asthma syndrome
Nie CHEN ; Jian WU ; Zhibang HU ; Lei XU
Chinese Journal of Immunology 2025;41(7):1757-1762
Objective:To investigate the effect of miR-21 targeting Foxp1 on expressions of inflammatory factors IgE,IL-4,IL-6 and IL-13 in patients with combined allergic rhinitis and asthma syndrome(CARAS).Methods:A total of 90 subjects were collected in The Second People's Hospital of Changzhou(The Third Affiliated Hospital of Nanjing Medical University),including 45 patients with allergic rhinitis(AR)and 45 patients with CARAS.Pulmonary function instrument was used to detect pulmonary function index;RT-qPCR was used to detect expressions of miR-21 and Foxp1 in peripheral blood mononuclear cells(PBMCs);ELISA was used to detect expressions of IgE,IL-4,IL-6 and IL-13 in peripheral serum;double luciferase gene report assay was used to detect the targeting regu-latory effect of miR-21 on Foxp1;miR-21 inhibitor was transfected into PBMCs to construct miR-21 interference group cells,RT-qPCR was used to detect Foxp1 expression,ELISA was used to detect release levels of IgE,IL-4,IL-6 and IL-13 in each cell supernatant;Foxp1 overexpression lentivirus was transfected into PBMCs to construct Foxp1 overexpression cells,ELISA was used to detect levels of IgE,IL-4,IL-6 and IL-13 in supernatant of each group.Results:Compared with patients with AR,FEV1%pred and FEV1/FVC%decreased significantly in patients with CARAS;level of miR-21 in PBMCs of patients with CARAS was higher,while level of Foxp1 was lower;levels of IgE,IL-4,IL-6 and IL-13 in peripheral serum of patients with CARAS were higher;miR-21 could bind to the untranslated region of Foxp1 and negatively regulate it;the inhibition of miR-21 and the increasion of Foxp1 could reduce the release of IgE,IL-4,IL-6 and IL-13 in cell supernatant.Conclusion:miR-21 can promote the release of inflammatory factors IgE,IL-4,IL-6 and IL-13 in CARAS patients by negative regulation of Foxp1.
9.Construction of a theoretical framework for factors influencing the use of intravenous therapy specialist nurses based on grounded theory
Shengxiao NIE ; Kui SONG ; Yanfen SHEN ; Jingli KOU ; Pei WANG ; Lei LI ; Kaili ZHANG ; Hong SUN
Chinese Journal of Modern Nursing 2025;31(33):4497-4505
Objective:To explore the influencing factors of the use of intravenous therapy specialist nurses and construct a theoretical framework, so as to provide reference for developing intervention measures and improving the use of intravenous therapy specialist nurses.Methods:The grounded theory research method was used. From July to August 2024, 17 intravenous therapy managers/specialist nurses from six ClassⅢ Grade A hospitals in Beijing City and Hebei Province were selected through purposive and theoretical sampling for semi-structured interviews. NVivo 12.0 was used for data analysis, including open, axial, and selective coding.Results:A total of 79 initial concepts were extracted and summarized into 25 domains, which were consolidated into five main domains, including organizational management and support, personal characteristics and professional identity, team collaboration and communication, work performance and incentive mechanisms, and external environment and opportunities. On this basis, a theoretical framework for factors influencing the use of intravenous therapy specialist nurses was constructed.Conclusions:This study constructs a theoretical framework for factors influencing the use of intravenous therapy specialist nurses. Managers can leverage this theoretical framework to develop targeted intervention strategies that enhance the effectiveness of intravenous therapy specialist nurses and optimize the allocation of nursing human resources.
10.Relationship between miR-217 and miR-4286 expression and HP infec-tion in gastric cancer patients and their prognostic value after radical gas-tric cancer Surgery
Qing CAO ; Lei MENG ; Xiao-qing HE ; Xiao-ye FAN ; Hong-feng NIE
Chinese Journal of Current Advances in General Surgery 2025;28(10):784-788
Objective:To explore the relationship between the expressions of miR-217 and miR-4286 in gastric cancer tissues and gastric cancer complicated with Helicobacter pylori(HP)infection,as well as their predictive value for prognosis.Methods:A total of 225 patients who underwent radical gastrectomy for gastric cancer in the First Af-filiated Hospital of Xingtai Medical College from January 2021 to February 2023 were selected and divided into the HP+group and the HP-group according to whether they were complicated with HP infection.The expressions of miR-217 and miR-4286 in gastric cancer tissues were detected by real-time fluorescence quantitative PCR,the rela-tionship between the expressions of miR-217 and miR-4286 and HP infection in patients with gastric cancer was evaluated by Spearman correlation analysis.Regular outpatient reexaminations were conducted for a 2-year follow-up.Gastric cancer patients with recurrence or all-cause death during the follow-up period were included in the poor prognosis group,and the rest were included in the good prognosis group.Univariate and multivariate Logistic regres-sion analysis methods were used to screen the influencing factors of gastric cancer prognosis,the ROC curve was used to evaluate the predictive value of miR-217 and miR-4286 expressions for the prognosis of gastric cancer.Re-sults:Compared with the HP-group,the expressions of miR-217 and miR-4286 in the HP+group were up-regulated(P<0.05),and the expressions of miR-217 and miR-4286 were positively correlated with gastric cancer pa-tients with HP infection(r=0.652,0.485,P<0.05).Compared with the good prognosis group,the proportion of TNM stage Ⅲ,lymph node metastasis and HP infection in the poor prognosis group was higher,and the expressions of miR-217 and miR-4286 were up-regulated,with statistical significance(P<0.05).The results of multivariate Logistic regression analysis showed that TNM stage Ⅲ(OR=1.425),lymph node metastasis(OR=1.548),HP infection(OR=1.465),high expression of miR-217(OR=1.608),and high expression of miR-4286(OR=1.544)are the influencing fac-tors for poor prognosis of gastric cancer(P<0.05).The ROC curve showed that the AUC of the combined prediction of miR-217 and miR-4286 in gastric cancer tissues for poor prognosis in patients with gastric cancer was 0.922,which was higher than that of miR-217(0.817)and miR-4286(0.806)alone(Z=6.527,7.025;both P<0.05).Conclu-sion:The expressions of miR-217 and miR-4286 in gastric cancer tissues are closely related to HP infection in gas-tric cancer patients,and the combination of Mir-217 and Mir-4286 is effective in predicting the poor prognosis after radical gastritis.

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