1.Family analysis of primary microcephaly caused by complex heterozygous variants of the RTTN gene and literature review
Chenyue ZHAO ; Jinsong JIANG ; Lixue ZHANG ; Min GUO ; Jingbo GAO ; Xiayu SUN ; Rong GUO ; Hongyong LU ; Jianrui WU ; Huiqin XUE
Chinese Journal of Child Health Care 2024;32(2):212-217
【Objective】 To analyze the genetic variation characteristics and clinical phenotypes of a family with primary microcephaly (MCPH) caused by RTTN gene variation, and to provide reference for genetic counseling and prenatal diagnosis. 【Methods】 Clinical data of the three patients (including 2 fetuses and 2-year-old proband,and one fetus with clinical diagnosis) and their parents were collected and analyzed. Two of the children and their parents were tested by trio whole exome sequencing (trio-WES), sanger sequencing validation sites, and the hazard of their compound heterozygous variants was predicted. Literature review was conducted through domestic and international databases to collect reported RTTN gene mutation cases. 【Results】 Three patients in this family had anomalies of the septum pellucidum, hypoplasia of the corpus callosum and other brain malformations during fetal period. The proband (G2) and fetus (G3) showed intrauterine growth retardation and MCPH in late pregnancy; besides, G2 was born with global developmental delay. Trio-WES detected a c.2101(exon16)C>T(p.Arg701Ter,1526) nonsense and a c.2863(exon22)G>A(p.Glu955Lys)missense in the RTTN gene of G2 and G3, which were inherited from their father and mother, forming a compound heterozygous variant. According to the American College of Medical Genetics and Genomics (ACMG) variant classification guidelines, two variants were likely to be pathogenic (LP) and uncertain significance (VUS). Among them, c.2863(exon22)G>A was a newly discovered missense, which was predicted by the software to be harmful to the gene product. 【Conclusions】 Complex heterozygous variations of RTTN gene (c.2101C>T and c.2863G>A) are the genetic cause of MCPH in this family. This report has enriched the variation spectrum of RTTN gene, provided guidance for prenatal diagnosis and reproduction of this family, as well as material and reference for further understanding of the diseases caused by this gene mutation.
2.Current status of blood pressure control in elderly hypertensive patients under the antihypertensive standard recommended by Chinese experts
Qiongyi HE ; Xingman FAN ; Chenyue MA ; Meng WANG ; Jing ZHANG ; Haitao ZHANG
Chinese Journal of Geriatric Heart Brain and Vessel Diseases 2024;26(1):34-37
Objective To analyze the antihypertensive compliance rate,drug use and complication distribution among very old hypertensive inpatients under the antihypertensive standard of 150/90 mm Hg in our country(1 mm Hg=0.133 kPa).Methods A total of 409 hospitalized patients aged ≥80 years and diagnosed with hypertension in all departments of Air Force Medical Center of PLA were enrolled,and according to their clinical outcomes,they were divided into intensive antihypertensive group(106 cases,SBP<130 mm Hg),standard antihypertensive group(155 ca-ses,SBP 130-149 mm Hg)and non-standard blood pressure group(148 cases,SBP ≥150 mm Hg).The status of blood pressure control was analyze in each group.Results When 150/90 mm Hg was used as the blood pressure standard,25.9%were in the intensive blood pressure group,37.9%were in the standard blood pressure group,36.2%were in the non-standard blood pressure group.The proportion of patients aged>90 years was significantly lower in the non-standard blood pressure group than the intensive antihypertensive group and the standard anti-hypertensive group(4.1%vs 7.5%and 12.3%,P<0.05).The ratio of single-drug therapy was significantly higher in the standard antihypertensive group than the intensive antihypertensive group(46.5%vs 32.1%,P<0.05),and that of dual combination therapy was obviously higher in the intensive antihypertensive group than the standard antihypertensive group(35.8%vs 22.6%,P<0.05).The proportions of heart damage and cerebrovascular damage were significantly higher(43.4%vs 21.9%,26.4%vs 14.8%),and the proportion of complicated retinopathy was notably lower(11.3%vs 23.9%)in the intensive antihypertensive group than the standard antihypertens-ive group(P<0.05).Conclusion For very old hypertensive patients in our country,it is more sci-entific and practical to use 150/90 mm Hg as the starting standard for blood pressure reduction.Intensified blood pressure reduction increases cardiovascular and cerebrovascular damages in them instead.
3.Establishment of a prediction model for postoperative progression-free survival in patients with renal cell carcinoma
Huafeng LI ; Zhenlong WANG ; Hongyi ZHANG ; Zihe PENG ; Chenyue WANG ; Yao DONG ; Haibin ZHOU
Journal of Modern Urology 2024;29(10):892-897
[Objective] To analyze factors influencing the postoperative progression-free survival (PFS) in patients with renal cell carcinoma (RCC), construct a nomogram model for predicting PFS, and compare it with other predictive models. [Methods] A retrospective analysis was conducted on the general and clinical data of 263 RCC patients who underwent surgery at the Department of Urology, the Second Affiliated Hospital of Xi'an Jiaotong University, during Apr.2014 and Nov.2021.Patients were divided into the progression group (n=34) and non-progression group (n=229). The data of the two groups were analyzed to identify prognostic variables associated with PFS, and a nomogram model was constructed.The performance of this model was compared with that of the University of California, Los Angeles Integrated Staging System (UISS) score, tumor staging, tumor size, tumor pathological grade, and tumor necrosis scoring system (SSIGN score), and Leibovich score by plotting receiver operating characteristic (ROC) curve and calculating the area under the curve (AUC). Calibration curve of the nomogram was used to validate the model's performance, and K-fold cross-validation was employed to assess its external validity. [Results] Multivariate Cox regression analysis revealed that age (HR=2.255, 95%CI: 1.032-4.926), T stage (HR=5.766, 95%CI: 2.351-14.142), pathological grade (HR=3.100, 95%CI: 1.445-6.651), and pathological necrosis (HR=2.656, 95%CI: 1.253-5.629) were independent risk factors of PFS (P<0.05). The nomogram model based on these four independent variables had AUCs (95%CI) of 0.750 (0.630-0.870), 0.803 (0.705-0.902), and 0.847 (0.757-0.937) for 1, 3, and 5 years, respectively, which were higher than those of UISS score, SSIGN score, and Leibovich score.The calibration curve of the nomogram showed good consistency between predicted and actual probabilities.In K-fold cross-validation, the average AUCs of the nomogram at 1, 3, and 5 years were 0.761, 0.808, and 0.842, indicating good external validity of the nomogram. [Conclusion] The nomogram based on age, T stage, pathological grade and pathological necrosis can accurately predict the risk of postoperative PFS in RCC patients at 1, 3, and 5 years, which can aid clinicians in the early identification of high-risk progression.
4.The value of quantitative flow ratio in the hemodynamic evaluation of myocardial bridge
Meng WANG ; Xingman FAN ; Quanlong WANG ; Yukun CAO ; Chenyue MA ; Qiongyi HE ; Haitao ZHANG
Chinese Journal of Cardiology 2024;52(2):165-171
Objective:To explore the application value of quantitative flow ratio (QFR) in the hemodynamic evaluation of myocardial bridge and to preliminarily evaluate the correlation and related influencing factors between deformation quantitative flow ratio (D-QFR) and QFR.Methods:This is a cross-sectional study. Patients with CAG-confirmed simple myocardial bridge of the middle anterior descending coronary artery from June 2012 to June 2022 at the Air Force Medical Center were retrospectively included in this study. Systolic stenosis of mural coronary arteries (MCA) and myocardial bridge length were measured using quantitative coronary angiography. The patients were divided into mild stenosis group (<50% systolic stenosis) and moderate-to-severe stenosis group (≥50% systolic stenosis) according to the Nobel grading criteria. At different time periods (systolic and diastolic), the QFR values were measured at 3 locations (1 to 2 cm before the MCA entrance, the middle segment of the MCA, and 1 to 2 cm after the MCA exit), denoted as QFRa, QFRb, and QFRc, respectively, and the D-QFR values, incorporating vessel deformation information, were recorded. The MCA distal QFR≤0.8 in either stage was defined as an abnormal QFR value. QFR values were compared between the two groups at different locations and within each group. Factors associated with abnormal QFR values were analysed using multifactorial logistic regression. Spearman rank correlation analysis was used to examine the correlation between D-QFR values and systolic and diastolic QFR values.Multiple linear regression was used to analyse the factors associated with D-QFR.Results:A total of 83 patients were enrolled, including 58 males, aged (57.1±13.1) years. There were 48 cases in the mild stenosis group and 35 cases in the moderate-to-severe stenosis group, and the differences in systolic and diastolic QFRb and QFRc values between the two groups were statistically significant (all P<0.05). Within-group comparisons showed the values of QFRb and QFRc in the systolic phase were lower than those in the diastolic phase; QFRb and QFRc were both lower than QFRa during the same period (all P<0.05). Multifactorial logistic regression analysis showed that MCA systolic stenosis ( OR=1.225, 95% CI 1.093-1.372, P<0.001) was an influential factor for abnormal QFR. D-QFR values were positively correlated with both systolic and diastolic QFR values (correlation coefficients were 0.849 and 0.675, respectively, both P<0.01). Multiple linear regression analysis showed that D-QFR values were negatively correlated with age ( β=-0.208, P=0.029), systolic stenosis ( β=-0.500, P<0.001), and myocardial bridge length ( β=-0.211, P=0.036). Conclusions:The QFR values in middle and distal of myocardial bridge decrease. The systolic stenosis rate of myocardial bridge is an important factor affecting QFR value. D-QFR is positively correlated with both systolic and diastolic QFR values. Age, myocardial bridge systolic stenosis rate and length are factors influencing the D-QFR values.
5.Exploration on the Treatment of Abdominal Flatulence Disease Based on Huang Yuanyu's Pivot Movement Theory
Xinran SHI ; Yuhui LIU ; Chenyue PEI ; Yanru JIA ; Liang ZHANG
Chinese Journal of Information on Traditional Chinese Medicine 2024;31(9):164-167
Based on the"pivot movement"theory of distinguished physician Huang Yuanyu in the Qing Dynasty,it is believed that the core mechanism of abdominal flatulence disease is the unfavorable operation of the central axis pivot,and the ascent and descent disorder of qi movement in the central earth.The pathogenesis of abdominal flatulence disease was explained from the perspectives of mistakenly dropping the damage to yang,keeping the lung qi from falling,and declining central qi deficiency.The main concept of clinical practice was to promote the movement of the middle earth,promote the movement of the spleen and stomach,and restore position of yin and yang and clearing and turbidity.Examples were given of the five commonly used TCM prescriptions,including Xiaqi Decoction,Banxia Xiexin Decoction,Gancao Xiexin Decoction,Shengjiang Xiexin Decoction and Xuanfu Daizhe Decoction,to explain the treatment approach guided by the theory of"pivot movement",in order to provide reference for clinical diagnosis and treatment.
6.Research advances of 3D printing in vascularization
Yifei CHEN ; Chenyue ZHANG ; Jinglan ZHANG ; Binjing ZHANG ; Xin RONG ; Zhiai HU
STOMATOLOGY 2023;43(1):82-87
As the key to regeneration of oral and maxillofacial tissues such as bone, dental pulp and skin, vascularization has always been the focus of tissue engineering. With the development of three-dimensional (3D) printing in tissue engineering, there are increasing ways to construct vascular structures. However, to achieve the objective of highly simulating vascular structure in morphology and function and promote tissue repair, it is still a major difficulty for 3D bioprinting to construct highly precise and biologically functional simulated vascular structures. This paper summarizes new progress of 3D printing vascular structure, expounds frontier biological manufacturing technologies of vascular and vascularized structure such as suspension printing, coaxial printing, 4D printing, and so on, analyzes its advantages and disadvantages, and discusses its development prospect, in order to provide reference for the application of 3D printing blood vessels in regeneration and repair of oral and maxillofacial tissues.
7.Qualitative Analysis of Metabolites of Aristolochiae Fructus Aqueous Extract in Rats
Fang WANG ; Chunying LI ; Yan YI ; Suyan LIU ; Yong ZHAO ; Jing MENG ; Jingzhuo TIAN ; Lianmei WANG ; Jiayin HAN ; Chen PAN ; Yushi ZHANG ; Chenyue LIU ; Shasha QIN ; Dunfang WANG ; Zhong XIAN ; Xuan TANG ; Meiting LIU ; Aihua LIANG
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(13):112-121
ObjectiveBased on ultra performance liquid chromatography-quadrupole-time-of-flight mass spectrometry(UPLC-Q-TOF-MSE) technique, we identified qualitatively the metabolites of aristolochic acid(AAs) in rat in order to analyze the metabolic differences between water extract of Aristolochiae fructus(AFE) and Aristolochic acid Ⅰ(AAⅠ). MethodSD rats were selected and administered AFE(110 g·kg-1·d-1) or AAⅠ(5 mg·kg-1·d-1) by oral for 5 days, respectively. Serum, urine and feces were collected after administration. Through sample pretreatment, ACQUITY UPLC BEH C18 column(2.1 mm×100 mm, 1.7 μm) was used with the mobile phase of 0.01% formic acid methanol(A)-0.01% formic acid water(B, containing 5 mmol·L-1 ammonium acetate) for gradient elution(0-1 min, 10%B; 1-7 min, 10%-75%B; 7-7.2 min, 75%-95%B; 7.2-10.2 min, 95%B; 10.2-10.3 min, 95%-10%B; 10.3-12 min, 10%B) at a flow rate of 0.3 mL·min-1. Positive ion mode of electrospray ionization(ESI+) was performed in the scanning range of m/z 100-1 200. In combination with UNIFI 1.9.4.053 system, the Pathway-MSE was used to qualitatively analyze and identify the AAs prototype and related metabolites in biological samples(serum, urine and feces), and to compare the similarities and differences of metabolites in rats in the subacute toxicity test between AFE group and AAⅠ group. ResultCompared with AAⅠ group, 6, 10, 13 common metabolites and 14, 20, 30 unique metabolites were identified in biological samples(serum, urine and feces) of AFE group, respectively. Moreover, the main AAs components always followed the metabolic processes of demethylation, nitrate reduction and conjugation. Compared with common metabolites in AAⅠ group, prototype components of AAⅠ in serum and most metabolic derivatives of AAⅠ[AAⅠa, aristolochic lactam Ⅰ(ALⅠ)a, 7-OHALⅠ and its conjugated derivatives] in biological samples were significantly increased in AFE group(P<0.05, P<0.01), except that the metabolic amount of ALⅠ in feces of AFE group was remarkably lowed than that of AAⅠ group(P<0.01). In addition, a variety of special ALⅠ efflux derivatives were also identified in the urine and feces of the AFE group. ConclusionAlthough major AAs components in AFE all show similar metabolic rules as AAⅠ components in vivo, the coexistence of multiple AAs components in Aristolochiae Fructus may affect the metabolism of AAⅠ, and achieve the attenuating effect by increasing the metabolic effection of AAⅠ and ALⅠ.
8.A study on the perceived barriers of community nurses in evidence-based nursing practice
Xuejiao ZHU ; Shu LI ; Chenyue ZHANG
Chinese Journal of Practical Nursing 2021;37(30):2381-2386
Objective:To explore the barrier factors perceived by community nurses in evidence-based nursing practice.Methods:A cross-sectional survey of perceived barriers in 769 community nurses of China was conducted by using the Barriers to Research Utilization Scale from October 2017 to April 2018. In a semi-structured interview, a total of 15 community nurses were selected by purpose sampling for deeply exploring details of perceived barriers, the influencing of barriers and the needed supports for overcoming the barriers in evidence-based practice. The interview data were transcribed to text and analyzed by using thematic analysis in Nvivo 11.0.Results:Community nurses faced barriers including insufficient resources, support and ability of evidence-based practice of community nurses. The results of interview provided the details of these barriers which had negative impacts on community nurses. To overcome these barriers, evidence-based related training, enhanced supporting resources were needed.Conclusions:Community nurses are facing multiple barriers in evidence-based practice. To promote the ability of evidence-based practice of community nurses, it is necessary to strengthen the support from organization, personnel, resources, and improve the ability of community nurses in evidence-based practice.
9.Safety of RhD alloimmunization
Chenyue LI ; Sitian CHEN ; Rui HE ; Ning SONG ; Li TIAN ; Jinjin ZHANG ; Yongli HUANG ; Yanchao XING ; Zhong LIU
Chinese Journal of Blood Transfusion 2021;34(5):489-493
【Objective】 To explore the safety of RhD-positive red blood cells (RBCs) immunization schedules in RhD-negative volunteers, so as to facilitate the development of domestic anti-D immunoglobulin. 【Methods】 From January 2018 to April 2020, 23 RhD negative volunteers with informed consent were enrolled and divided into initial immunization group and booster immunization group. The initial immunization included first immunization, second immunization and third immunization. Four groups, i. e. 3 cases of 20 mL, 8 of 30 mL, 6 of 40 mL, and 6 of 50 mL, were involved in initial immunization. After the initial immunization response, booster immunizations were performed every 3 months. According to the anti-D titer before each immunization, the booster immunization doses were set to 0.5, 1 and 2 mL. Whole blood samples of 5mL/ person (time) were collected 24 h and 1 week after each infusion, and the blood routine, liver, kidney and blood coagulation function and anti-D titer were detected. The differences of detection (index) values at 24 h and 1 week after the first immunization and booster immunization in each (dose) group were compared. 【Results】 No statistically significant differences were observed in hemolysis index values (all within the range of medical reference values) 24 h or 1 week after initial immunization among RhD positive RBCs of 20, 30, 40 and 50mL(P>0.05). The differences between the hemolysis index values and the basic values before the immune response (all within the range of medical reference values) after 0.5 or 1 mL booster immunizations were also not statistically different (P>0.05). However, the differences (μmol/L)between total bilirubin levels and the basic values before the immune response (1.55±1.87, 6.29±2.66) were significantly different after 2 mL booster immunization (P<0.05). 【Conclusion】 No risks affecting the safety of RhD negative volunteers was found in the immunization schedule proposed in this study.
10.Visual analysis of researches on nursing sensitive quality indicators based on CiteSpace
Chenyue ZHANG ; Xuejiao ZHU ; Mengting XING ; Min YANG
Chinese Journal of Modern Nursing 2021;27(10):1294-1300
Objective:To compare research hotspots and frontiers of nursing sensitive quality indicators at home and abroad and to understand the current research status of nursing sensitive quality indicators, so as to provide reference for improving nursing quality.Methods:Using "nursing sensitive quality indicators" and "nursing sensitive quality indicators" as the Chinese and English search terms, CiteSpace Ⅴ software was used to conduct a quantitative analysis of the reviews and research literatures collected by CNKI from the establishment of CNKI database to June 2020 and by Web of Science core collection database from 2014 to 2020. High-frequency keywords, keyword co-occurrence and burst words were carried out visual analysis.Results:A total of 262 valid Chinese reviews and 789 English reviews were retrieved and the overall publication volume was on the rise. Foreign research focused on the outcome of nursing sensitivity quality indicators, the application of specialist nursing practice and the methods of indicator development, while domestic research focused mainly on adverse events, quality control and other aspects.Conclusions:Domestic researches on nursing sensitivity quality indicators has been continuously strengthened. In the future, in-depth researches can be continued in the aspects of processing, development methods and application promotion of indicator information.

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