1.Diagnostic value of targeted sequencing panel for genetic variation in neonates in neonatal intensive care unit
Wenwen LI ; Lin ZOU ; Kefeng TANG ; Yaqin ZHANG ; Xueping SHEN ; Jinghui ZHANG ; Guosong SHEN
Chinese Journal of Perinatal Medicine 2024;27(2):118-125
Objective:To investigate the clinical value of targeted sequencing panel in the detection of genetic variation in neonates in neonatal intensive care unit (NICU).Methods:All neonates (≤28 d of age) admitted in the NICU (case group) and 200 full-term healthy neonates born with no obvious phenotypic abnormalities of Huzhou Maternity and Child Health Care Hospital were enrolled in this prospective study from November 2022 to January 2023. Based on a list of preventable and treatable rare diseases as well as newly screened diseases in China, a targeted sequencing panel suitable for Chinese newborns was designed to target the pathogenic genes and mutation sites associated with 601 genes and 542 diseases. Dried blood spot specimens were prepared and analyzed by the targeted sequencing panel. Pathogenic sites detected by the panel sequencing were verified using Sanger sequencing. The genetic testing results were analyzed according to the clinical features of the neonates. According to the number of primary clinical diagnosis index (including premature infants, neonatal hyperbilirubinemia, hemorrhagic diseases, neonatal infections, ventricular septal defect/patent ductus arteriosus, and others), these patients were divided into four groups with 1, 2, 3, and ≥4 diagnosis index, respectively. Chi-square test and linear correlation Chi-square test were used for statistical analysis. Results:There were 173 patients in the case group and 30.6% (53/173) of them carried pathogenic variants, including 52 positive for pathogenic genes and one with chromosome copy number variant. The positive rate of pathogenic genes was significantly higher in the case group than in the control group [30.1% (52/173) vs. 15.0% (30/200), χ 2=12.26, P<0.001]. Fourteen pathogenic genes were detected in the case group, including FLG, UGT1A1, G6PD, MYH7, AR, ABCC2, ACADS, CYP21A2, GJB2, MEFV, PAH, PKHD1, SCN4A, and HBA. In the case group, the detection rate of pathogenic variants in jaundiced neonates was higher than that in non-jaundiced neonates [35.2% (44/125) vs. 18.8% (9/48), χ 2=4.42, P=0.036]. However, there were no statistically significant differences in the detection rates of pathogenic variants between male and female infants, infants born to mothers of advanced maternal age or not, infants born to mothers with or without gestational diabetes mellitus, premature and term infants, or infants with or without hemorrhagic disorders, neonatal infections, or ventricular septal defects/patent ductus arteriosus in the case group (all P>0.05). The detection rate of pathogenic variants showed a linear increase in infants with 1, 2, 3, and ≥4 diagnosis index [21.1% (8/38), 25.4% (15/59), 38.2% (13/34), and 40.5% (17/42); linear correlation χ 2=4.84, P=0.028]. In the case group, seven genes with a high detection rate of genetic variation (including positive pathogenic genes and carriers) were UGT1A1 [had the highest detection rate, 24.9% (43/173)], GJB2, FLG, DUOX2, ABCA4, G6PD, and MUT. Seven loci with higher mutation frequency were c.211G>A(p.Gly71Arg), c.1091C>T(p.Pro364Leu), c.-41_-40dupTA, and c.686C>A(p.Pro229Gln) in the UGT1A1 gene, c.109G>A(p.Val37Ile) in the GJB2 gene, and c.12064A>T(p.Lys4022Ter) and c.3321del(p.Gly1109GlufsTer13) in the FLG gene. Conclusion:This panel sequencing can provide effective genetic testing for neonates in NICU, especially in children with complex clinical diagnosis.
2.Cross sectional, surveillance and longitudinal study of poor visual acuity in Gui an New Distinct of Guizhou Province
HE Wanya, ZHU Yan, TANG Xin, QIN Huiling, CAI Jinghui, NIE Ying
Chinese Journal of School Health 2023;44(2):291-294
Objective:
To understand the development trend of poor vision among primary students through cross sectional, surveillance and longitudinal analysis, so as to put forward some suggestions on adolescents growth and health.
Methods:
Visual data of 3 753 pupils were inclucled for analysis from Gui an New Distinct, Guizhou Province in autumn semester 2021, and were compared with data collected during the year of 2016-2021. The curve, increment and contribution rate of poor vision from each grade of the three designs were contrasted.
Results:
In 2021, poor vision rate among pupils in this town was 25.6%. The curve of poor vision rate in cross sectional data was U shaped with significant rise followed by decline which was different from monitoring and longitudinal tracking data, and the trend of poor vision rate of monitoring and longitudinal tracking data were linear with continued increases. The cross sectional data in 2021 showed that the highest contribution rate of poor vision rate of pupils was in grade 1(87.0% ), while other data showed that those were both in grade 4(45.0%, 33.9%).
Conclusion
The accuracy of the development trend of poor vision is lowest in cross sectional analysis and highest in longitudinal analysis. However, data acquisition and preservation is easy in cross sectional study and difficult in longitudinal study. It is necessary to improve the electronic information system based on cross sectional data to gradually form a complete monitoring and longitudinal tracking data, and combine different data to provide more accurate information.
3.Risk factors of bronchopulmonary dysplasia in very preterm infants: a national multicenter study
Ruihua BA ; Lixia TANG ; Wei SHEN ; Lian WANG ; Zhi ZHENG ; Xinzhu LIN ; Fan WU ; Qianxin TIAN ; Qiliang CUI ; Yuan YUAN ; Ling REN ; Jian MAO ; Yumei WANG ; Bizhen SHI ; Ling LIU ; Jinghui ZHANG ; Yanmei CHANG ; Xiaomei TONG ; Yan ZHU ; Rong ZHANG ; Xiuzhen YE ; Jingjing ZOU ; Huaiyu LI ; Baoyin ZHAO ; Yinping QIU ; Shuhua LIU ; Li MA ; Ying XU ; Rui CHENG ; Wenli ZHOU ; Hui WU ; Zhiyong LIU ; Dongmei CHEN ; Jinzhi GAO ; Jing LIU ; Ling CHEN ; Cong LI ; Chunyan YANG ; Ping XU ; Yayu ZHANG ; Sile HU ; Hua MEI ; Zuming YANG ; Zongtai FENG ; Sannan WANG ; Eryan MENG ; Lihong SHANG ; Falin XU ; Shaoping OU ; Rong JU
Chinese Pediatric Emergency Medicine 2022;29(6):433-439
Objective:To analyze the risk factors of bronchopulmonary dysplasia(BPD)in very preterm infants(VPI), and to provide scientific basis for the prevention and treatment of BPD in VPI.Methods:A prospective multicenter study was designed to collect the clinical data of VPI in department of neonatology of 28 hospitals in 7 regions from September 2019 to December 2020.According to the continuous oxygen dependence at 28 days after birth, VPI were divided into non BPD group and BPD group, and the risk factors of BPD in VPI were analyzed.Results:A total of 2 514 cases of VPI including 1 364 cases without BPD and 1 150 cases with BPD were enrolled.The incidence of BPD was 45.7%.The smaller the gestational age and weight, the higher the incidence of BPD( P<0.001). Compared with non BPD group, the average birth age, weight and cesarean section rate in BPD group were lower, and the incidence of male infants, small for gestational age and 5-minute apgar score≤7 were higher( P<0.01). In BPD group, the incidences of neonatal respiratory distress syndrome(NRDS), hemodynamically significant patent ductus arteriosus, retinopathy of prematurity, feeding intolerance, extrauterine growth restriction, grade Ⅲ~Ⅳ intracranial hemorrhage, anemia, early-onset and late-onset sepsis, nosocomial infection, parenteral nutrition-associated cholestasis were higher( P<0.05), the use of pulmonary surfactant(PS), postnatal hormone exposure, anemia and blood transfusion were also higher, and the time of invasive and non-invasive mechanical ventilation, oxygen use and total hospital stay were longer( P<0.001). The time of starting enteral nutrition, cumulative fasting days, days of reaching total enteral nutrition, days of continuous parenteral nutrition, days of reaching 110 kcal/(kg·d) total calorie, days of reaching 110 kcal/(kg·d) oral calorie were longer and the breastfeeding rate was lower in BPD group than those in non BPD group( P<0.001). The cumulative doses of amino acid and fat emulsion during the first week of hospitalization were higher in BPD group( P<0.001). Multivariate Logistic regression analysis showed that NRDS, invasive mechanical ventilation, age of reaching total enteral nutrition, anemia and blood transfusion were the independent risk factors for BPD in VPI, and older gestational age was the protective factor for BPD. Conclusion:Strengthening perinatal management, avoiding premature delivery and severe NRDS, shortening the time of invasive mechanical ventilation, paying attention to enteral nutrition management, reaching whole intestinal feeding as soon as possible, and strictly mastering the indications of blood transfusion are very important to reduce the incidence of BPD in VPI.
4.CD45RO⁺ Memory T Lymphocytes As A Candidate Marker for Non-small Cell Lung Cancer.
Qifan TAN ; Haoyang LI ; Mengjun YU ; Xiaonan TANG ; Jinjing TAN ; Shucai ZHANG ; Jinghui WANG
Chinese Journal of Lung Cancer 2021;24(4):254-264
BACKGROUND:
Lung cancer is the most common malignancy world-wide. There are a variety of immune infiltrating cells in tumor microenvironment, which is an important component of tumor immunity and has clinical significance for the prognosis of patients. CD45RO is a surface marker of memory T cells. The expression of CD45RO⁺ tumor infiltrating lymphocytes (TILs) is associated with the prognosis of many tumors. The purpose of this study was to evaluate the relationship between the density of CD45RO⁺ TILs in tumor and stromal area and the clinical characteristics of patients with non-small cell lung cancer (NSCLC) and its impact on the prognosis of patients. We aimed to explore the clinical value of CD45RO⁺ TILs and programmed cell death ligand 1 (PD-L1) as prognostic markers.
METHODS:
Multiple fluorescent immunohistochemical staining was used to stain the tissue microarray chips of 167 patients with NSCLC, marking CD45RO, cytokeratin (CK) and PD-L1. Using artificial intelligence image recognition technology and tumor cell-specific CK staining, divide the tumor and stromal area in the tissue, evaluate the density of CD45RO⁺ TILs in the tumor and stromal area, and the expression level of PD-L1 in tumor cells. The non-parametric test was used to analyze the relationship between CD45RO⁺ TILs and the clinical characteristics of patients, and the Kaplan-Meier method and Cox risk ratio model were used to analyze the relationship between CD45RO⁺ TILs independently or in combination with PD-L1 and tumor prognosis.
RESULTS:
The density of CD45RO⁺ TILs was significantly associated with patient age, smoking, tumor stage, and pathological type. Single-factor survival analysis showed that NSCLC (P=0.007) stromal region and lung adenocarcinoma (LUAD) (P<0.001) with CD45RO⁺ TILs high density had better OS. Multivariate survival analysis showed that the high density of CD45RO⁺ TILs in the stromal region of NSCLC (HR=0.559, 95%CI: 0.377-0.829, P=0.004) and lung adenocarcinoma (HR=0.352, 95%CI: 0.193-0.641, P=0.001) were independent prognostic factors for overall survival time (OS). Combined with PD-L1 score of tumor cells in tumor tissues and infiltration score of CD45RO⁺ TILs in all tumor tissues, the patients were divided into 4 groups: patients with PD-L1⁺/CD45RO⁺ had the longest disease-free survival (DFS) time, and patients with PD-L1⁺/CD45RO- had the shortest DFS time. Multivariate Cox regression analysis showed that PD-L1⁺/CD45RO- was an independent prognostic factor for DFS and had a higher risk of poor prognosis compared to the other three groups (HR=2.221, 95%CI: 1.258-3.919, P=0.006).
CONCLUSIONS
In tumor tissues, the density of CD45RO⁺ TILs, as well as the combination of CD45RO⁺ TILs and PD-L1 in tumor areas, significantly correlated with clinicopathological features and prognosis of NSCLC, which can be used as a new prognosis marker.
5.Application of two-photon imaging technology in the repair evaluation of radiation-induced skin injury in rats
Gaiying HE ; Wenfeng GOU ; Yi WANG ; Wenbin HOU ; Jinghui TANG ; Shuhua MA ; Yanan SUN ; Weifeng YANG ; Qiang FANG ; Yiliang LI
Chinese Journal of Radiological Medicine and Protection 2021;41(12):926-930
Objective:To evaluate the skin development and repair process of X-ray radiation damage in rat with non-invasive two-photon excitation fluorescence (TPEF) imaging technology in vivo. Methods:Totally 24 SD rats were randomly divided into four groups including X-ray irradiated group (25, 35 and 45 Gy) and non-irradiation control group. At different times after irradiation, the degree of skin injury was evaluated, and the pathological changes of nicotinamide adenine dinucleotide (phosphate) [NAD(P)H] and collagen fiber fluorescence signals in epidermal cells were detected in vivo by TPEF imaging technology. Results:At 10 d post-irradiation, the skin of irradiation groups showed erythema and desquamation. At 15-20 d post-irradiation, the skin of radiation groups developed progressive exudation, edema and ulcers with increasing radiation dose. On day 25, the skin began to repair in the 25 Gy group, however, the skin of other groups still had exudation and ulcers. On day 10, NAD(P)H fluorescence signal in epidermal cells of irradiation groups decreased and the fluorescence signal of collagen fibers in papillary layer and reticular layer of irradiation groups reduced, which were significantly lower than that of normal control group ( t=24.145, 28.303, 26.989, 6.654, 7.510, 7.997, P<0.05). On day 30, fluorescence signal of NAD(P)H and collagen fibers in epidermal cells and dermis began to repair, the cell from stratum granulosum, stratum spinosum, and stratum basale in the 25 Gy group showed fluorescence signal, the other groups did not show. The fluorescence signal of collagen fibers in the 25 Gy group were gradually increased in papillary layer and reticular layer, however, they were significantly lower than normal control group ( t=115.133, 17.431, P<0.05), the skin of 45 Gy group did not show fluorescence signal of collagen fibers. Conclusions:The damage and repair process of epidermal cells and dermal collagen fiber can be detected noninvasively by TPEF imaging technology after X-ray irradiation in vivo.
6.Dosimetric comparison between automated and manual volumetric modulated arc therapy planning for postoperative cervical cancer
Junxiang WU ; Shengwei KANG ; Pei WANG ; Bin TANG ; Fan WU ; Jinghui XU ; Jie LI
Chinese Journal of Radiological Medicine and Protection 2018;38(1):26-31
Objective To compare dosimetric parameters between automated and manualvolumetric modulated arc therapy(VMAT) plans in the treatment of postoperative cervical cancer patients,and to investigatethe feasibility and dosimetric advantage of the automated VMAT planning.Methods Automated and manual VMAT plans were generated with Pinnacle3 treatment planning system (TPS) for twenty-three postoperative cervical cancer patients,including eight patients in stage Ⅱ A and fifteen in stage Ⅱ B,respectively.The differences in D D95,conformity index (CI) and homogeneity index (HI) of target,as well as dose volume histogram (DVH) of organs at risk (OAR),planning time,average optimization time and monitor unit (MU) were compared between automated and manual VMAT plans.Results The average D CI and HI of automated VMAT plans were better than those of manual VMAT plans (t=4.65-14.92,P <0.05).There was no significant difference in D95 (P >0.05).The automated VMAT plans achieved better average dosimetric parameters on OARs compared with the manual VMAT plans (t =3.30-14.42,P < 0.05).Automated VMAT plans had a significantly shorter planning time (72 min,t =3.85,P < 0.05) and interruption frequency (twice,t =5.41,P < 0.05) than manual VMAT plans.However,automated VMAT plans had a higher average MU than manual VMAT plans with an average MU of 819 ± 53 and 638 ± 41 for automated and manual VMAT plans,respectively.Conclusions It is feasible to generate automated VMAT plans with Pinnacle3 TPS for postoperative cervical cancer patients.The automated VMAT plans increase the plan quality and reduce the optimization time compare with manual VMAT plans.Automated technique also eliminates the influence of human factors on the plan quality.
7.Construction of the competency model for junior caregivers for the elderly based on the combination of medical and endowment model.
Li YANG ; Jinghui ZHANG ; Binbin XU ; Siyuan TANG ; Jianmei HOU ; Mengdan MA ; Zhengkun SHI
Journal of Central South University(Medical Sciences) 2018;43(6):679-684
To construct a competency model for junior caregivers for the elderly and to provide a reference for the selection, evaluation and training for the junior caregivers for the elderly.
Methods: Firstly, we drafted the primary competency model for junior caregivers for the elderly through literature review. Then, we used Delphi method to carry out 2 rounds of questionnaire survey for 20 experts to optimize the indicators for primary model. The weight of each indicator is determined by analytic hierarchy process (AHP) and expert sequencing method.
Results: The effective recovery rates of the two-round questionnaire were 87% and 100%, respectively. The expert authority coefficient was 0.70-0.93, and the average authority coefficient was 0.80. The final version of the competency model for junior caregivers for the elderly included 4 first-grade indexes, 11 second-grade indexes and 37 third-grade indexes.
Conclusion: The competency model for the junior caregivers for the elderly is reliable and can be used as the reference standard for the selection, evaluation and training for the junior caregivers for the elderly.
Aged
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Caregivers
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standards
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Clinical Competence
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Delphi Technique
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Health Services for the Aged
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standards
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Humans
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Medical Staff, Hospital
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standards
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Reference Standards
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Surveys and Questionnaires
8.Analysis on problems of manuscripts in innovation, scientific nature and ethics
Lin ZHANG ; Jinghui LIAO ; Haiying TANG ; Qing ZHANG ; Xianhua GUO
Chinese Journal of Radiological Medicine and Protection 2017;37(5):398-400
Objective To discuss on the relationship among innovation,scientific nature and ethics in medical articles,in order to improve the academic quality of manuscripts.Methods Take Chinese Journal of Radiological Medicine and Protection as an example,innovation was emphasized in the field of radiation diagnosis and treatment,while the cases lack of innovation were pointed.However,the lessons from many papers showed that those papers only with innovation would be rejected because of defect in scientific nature and ethics.Results Innovation is the soul of the paper,and the scientific and ethical nature is the foundation and premise of innovation.Conclusions While the innovation is emphasized,the scientific nature and ethics of the thesis should be not ignored.These three aspects are integral.
10.Interpretation of manuscript specification and common problems in writing
Yuan WANG ; Xianhua GUO ; Jinghui LIAO ; Lin ZHANG ; Haiying TANG ; Qing ZHANG ; Fugang LI
Chinese Journal of Radiological Medicine and Protection 2016;36(12):951-954
Writing and publishing scientific papers is a very important part of the research work.The quality of the thesis is also an important indicator to measure the achievements of scientific research workers.The quality of the thesis mainly includes the academic quality and the writing quality,but some of the researchers are mostly proficient in practice and neglect the writing,so there are still many writing problems in the manuscript.By reading the submission specification,this article summarizes the common problems in the writing,so as to provide the reference value for the readers.


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