1.Identification and pedigree study of a case with McLeod phenotype caused by XK gene c. 107G>A mutation
Yan ZHANG ; Yunxiang WU ; Fei WANG ; Aijing LI ; Hua WANG ; Minghao LI ; Demei ZHANG ; Luyi YE
Chinese Journal of Blood Transfusion 2025;38(9):1253-1258
Objective: To identify the phenotypes, antibodies and explore the molecular mechanisms of a patient who carries antibodies to RBC high-frequency antigens and his family members. Methods: The antibody identification test was performed for the proband by serological methods, and targeted NGS was subsequently used to detect mutations that occurred in blood group genes. Blood samples were collected from the proband and his family members. Sanger sequencing was used to verify the mutation of the XK gene. The expression of Kell blood group antigens was detected by serological methods and flow cytometry. K
cells were used to detect the antibody specificity of the proband. The morphology of red blood cells was detected by the scanning electron microscopy. The serum creatine kinase levels of the proband and his family members were analyzed by colorimetric methods. Results: The results of the antibody identification test suggested that the proband might have antibodies to high-frequency antigens. NGS results suggested a homozygous mutation (c. 107G>A) in exon 1 of the XK gene in the proband, resulting in a truncated XK protein. The Sanger sequencing results of the proband were consistent with the NGS results, and the mutation was not found in other family members. The expression of Kell blood group antigens of the proband was not found by serological methods and flow cytometry. The results of the antibody specificity test showed that the proband had anti-Km antibodies. Spike-like changes were identified on red blood cells, and serum creatine kinase level was elevated in the proband. Conclusion: In this study, the McLeod phenotype caused by homozygous mutation (c. 107G>A) of XK gene was identified in Chinese individuals for the first time by the phenotype and molecular mechanism studies. The results of genotyping and phenotyping suggested that the McLeod phenotype caused by the mutation was compatible with the phenotypes of McLeod and K
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2.Pathogenesis and Treatment of Recurrent Granulomatous Mastitis Based on "Deficiency, Toxin and Blood Stasis"
Aijing CHU ; Yuezhu WANG ; Jieying ZHENG ; Zhongyuan XIA
Journal of Traditional Chinese Medicine 2024;65(12):1287-1291
To explore the pathogenesis and treatment of recurrent granulomatous mastitis based on "deficiency, toxin and blood stasis". It is believed that the main pathogenesis of recurrent granulomatous mastitis is spleen and stomach deficiency due to chronic illness, and at the same time, the persistent or intermittent presence of various causes makes the residual toxin unclear, which leads to the stagnation of local meridians and collaterals in the breast, accumulation of lumps, and then suppuration. Deficiency of qi and blood in zang-fu organs is the main cause of this disease, and residual toxin is the key factor of this disease. The treatment should focus on promoting therapy, promoting with dispersing, expelling with supplementing, supplementing with warming and dredging, dissolving toxins and releasing stasis, and the prescription is based on modified Tuoli Xiaodu Powder (托里消毒散) or self-prescribed Jiangru No.2 Formula (浆乳2号方). Overall, the treatment should combine deficiency, toxin and blood stasis with different syndrome differentiation and treatment, reinforce healthy qi and express toxin, and activate blood circulation and dredge collaterals with flexibly modification, to promote disease healing.
3.Inhibitory Effect of Hederasaponin B on Gastric Cancer HGC-27 Cells and Its Mechanism Based on Bioinformatics
Yangfei WEI ; Shuo WANG ; Tao CHEN ; Shuping YAN ; Peipei LI ; Hongmei LI ; Cheng SHEN ; Yumei MA ; Zhibo SONG ; Aijing LI ; Yulin LI
Chinese Journal of Experimental Traditional Medical Formulae 2022;28(16):50-58
ObjectiveTo investigate the inhibitory effect of hederasaponin B on gastric cancer HGC-27 cell and the mechanism. MethodMethyl thiazolyl tetrazolium (MTT) assay, hematoxylin-eosin (HE) staining, 4',6-diamidino-2-phenylindote (DAPI) staining, colony formation assay, scratch assay, and flow cytometry were employed for the analysis of apoptosis and cell cycle. Thereby, the inhibitory effect of hederasaponin B on gastric cancer HGC-27 cell was investigated. Then the Pharm Mapper, UniProt, Swissdock, STRING, and Metascape were used for target screening, gene annotation, molecular docking, protein-protein interaction (PPI) network construction, Gene Ontology (GO) term and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis to explore the mechanism. ResultHederasaponin B (15, 30, 60, 120 μmol·L-1) can significantly reduce the survival rate of HGC-27 cell (P<0.01) in a time-dependent and dose-dependent manner compared with the blank group. It had no significant toxicity to normal GES-1 cell at concentration below 120 μmol·L-1. Compared with the blank group, hederasaponin B (30, 60, 120 μmol·L-1) induced cytoplasmic vacuolization, and nuclear deformation and karyopyknosis, inhibited the migration of HGC-27 cell (P<0.01), and brought about the apoptosis (P<0.05, P<0.01) and cell cycle arrest of HGC-27 cell (P<0.05, P<0.01). Hederasaponin B (10, 20, 30 μmol·L-1) also suppressed the independent survival ability and proliferation ability of HGC-27 cell (P<0.01). The possible action targets were kinesin-like protein KIF11, cGMP-specific 3,5 cyclic phosphodiesterase, caspase-3, serine/threonine protein kinase Chk1, proto-oncogene tyrosine protein kinase, epidermal growth factor receptor, and mitogen-activated protein kinase (MAPK) 8. The mechanism may be related to MAPK signaling pathway (pathways in cancer), adhesion connection, focal adhesion and proteoglycans in cancer (epithelial cell signaling pathways in Helicobacter pylori infection). ConclusionHederasaponin B exerts significant inhibitory effect on gastric cancer HGC-27 cell through multiple targets and multiple pathways.
4.Mental health status of adolescents with adverse childhood experience and the influencing factors.
Ping MAO ; Lulu WANG ; Minghui TAN ; Wenzhao XIE ; Aijing LUO ; Jia GUO
Journal of Central South University(Medical Sciences) 2021;46(11):1298-1305
Adverse childhood experience (ACE) is potentially negative experience that occurs between 0 and 18 years old. The ACE adolescents have prominent mental health problems such as emotional regulation disorder, unstable interpersonal relationship, poor coping ability, and cognitive dysfunction. Until now, the factors affecting the mental health of ACE adolescents are not clear, but it is certain that the ecosystem in which ACE adolescents life affects their mental health. Specifically, the parent-child relationship, the school environment, the peer relationship in the micro-system, and the interaction between the parent-child relationship and other interpersonal relationship in the meso-system have been confirmed to be significantly related to the mental health of ACE adolescents. In the appearance system, the neighborhood cohesion, the level of family income, the educational level of parents and the different social and cultural background in the macro-system all have different degrees of impact on the development of ACE adolescents' psychological behaviors. In the diachronic system, the time and frequency of suffering from ACE have different effects on the mental health regarding the ACE adolescents.
Adolescent
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Adverse Childhood Experiences
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Child
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Child, Preschool
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Ecosystem
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Health Status
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Humans
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Infant
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Infant, Newborn
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Mental Health
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Parents
5.Evaluation on the effect of Clinical Medicine PBL Comprehensive Course
Li ZANG ; Shaoqing WANG ; Hui GU ; Aijing HUANG ; Nan MAO ; Fang GAO ; Jing ZHANG
Chinese Journal of Medical Education Research 2020;19(11):1292-1295
Objective:To evaluate the effect of web-based problem-based learning software on the Clinical Medicine PBL Comprehensive Course. Methods:Thirty-eight students from the pilot class of undergraduate excellent doctors in clinical medicine were selected as the research objects. Based on the test scores of web-based problem-based learning software before the start of the course, the improvement of scores after passing the training of the Clinical Medicine PBL Comprehensive Course were compared, and the students' clinical thinking were quantitatively evaluated. Results:After all students completed the course, their abilities of expression and communication, teamwork and cooperation, problem analysis and clinical reasoning, and knowledge information management of the students increased steadily with the increase in the number of cases, but it was statistically significant after two PBL case trainings ( P<0.05). Learning intentions and attitudes scored the highest in the second PBL case (acute myocardial infarction), with statistical differences ( P<0.05). After training through the PBL course, diagnostic performance, clinical thinking, treatment scores, and overall performance scores of the students were significantly increased than before, with statistical significance ( P<0.05). The scores of case report writing and knowledge acquisition were not obviously improved. Conclusion:The combination of formative evaluation and web-based problem-based learning software can better evaluate the teaching effect and help students to understand their own shortcomings.
6.High-frequency ultrasound combined with modified Rodnan skin score in systemic sclerosis
Hongyan LI ; Chao SUN ; Lin YANG ; Xiaoping WANG ; Yanru WANG ; Jingjing HE ; Yongxia QIAO ; Fuling SHAO ; Hongtao JIN ; Aijing LIU
Chinese Journal of Rheumatology 2019;23(4):233-237
Objective The purpose of this study was to evaluate the degree of skin thickening of patients with systemic sclerosis (SSc) by high-frequecy ultrasound,as well as the value of ultrasound.Methods Thirty-one patients with SSc and 31 age-matched and sex-matched healthy control subjects were enrolled.Skin thickness,modified Rodnan skin score (mRss),disease activity index (DA1) and other clinical parameters within and between groups were compared using SPSS 21 software.Student's t test,x2 test or nonparametric testing was performed to compare between groups.The Pearson or Spearman methods were used to test correlation.Sensitivity and specificity of skin thickness detection by high-frequecy ultrasound were evaluated by using receiver operating characteristic (ROC) curve analysis.Results Total thickness of skin (TST) of patientswith SSc were positively correlated to the total mRss (r=0.416,P=0.020) and DAI (r=0.436,P=0.014).The skin thickness of patients with mRss 0,1,2 was higher than CNT [1.45(0.60),1.70(0.30) mm,1.60 (0.30) mm vs 1.30 (0.35) mm,Z=-3.242,-6.577,-5.090,P<0.01].The cut-off value of TST used as the evaluation of skin change was 7.4 mm by ROC curve analysis,and the sensitivity and specificity of them was 77.40% and 87.10% respectively,and patients with thickened skin were more likely to suffer interstitial lung disease (ILD) (16 vs 1,x2=26.004,P=0.014),higher mRss [10(6) vs 4(5),Z=-2.499,P=0.031],DAI [(5.2±2.4) vs (2.3±1.7),t=-3.104,P<0.01)] and CRP [(8.60 (10.48) mg/L vs 3.52 (4.93) mg/L,Z=-2.276,P=0.038].Conclusion US combined with mRss are helpful to evaluate the changes of skin and disease activity of patients in SSc.US can identify the early and subclinical skin involvement that may precede mRss,providing a more reliable tool for diagnosis,treat efficacy and prediction of organ damage.
7.Visualization analysis for radiomics research based on knowledge mapping.
Aijing LUO ; Shanhu YAO ; Zhichao FENG ; Pengfei RONG ; Yuexiang QIN ; Wei WANG
Journal of Central South University(Medical Sciences) 2019;44(3):233-243
To illustrate the literature distribution, research power distribution, and research hotspots in the radiomics research by using knowledge mapping analysis, and to provide reference for relevant researchers.
Methods: Bibliographies from literature regarding radiomics in Web of Science database were downloaded. BICOM 2.0.1 and SATI 3.2 were used to clean and caculate the frequency of publication year, journal, author, key word, and research institution. CiteSpace V4.4.R1 was used to build the knowledge map of scientific research collaboration network between countries/regions.Ucinet 6 was used to build the knowledge map of scientific research collaboration network between core authors and institutions. gCLUTO 1.0 was applied to construct high-frequency keywords bi-clustering map.
Results: A total of 700 literature was screened. Since 2012 the number of publications has been growing rapidly year by year. The United States, China, and Netherlands were leaders in this field. There were 5 major scientific research institution cooperative groups and 10 major author cooperative groups. Eight research hotspots were clustered by using high-frequency key word bi-clustering analysis.
Conclusion: Radiomics is a new field and develops very fast. More and more countries, research institutions, and researchers with multidisciplinary background are going to participate in this filed. New terminology and new methods are going to appear in the field.
China
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Cluster Analysis
8.The correlation of leptin and a disintegrin and metalloproteinase with thrombospondin-like motifs 4 with joint destruction in patients with rheumatoid arthritis
Lin YANG ; Xiaoping WANG ; Hongyan LI ; Yongxia QIAO ; Shuran SONG ; Chao SUN ; Yanru WANG ; Jingjing HE ; Aijing LIU
Chinese Journal of Rheumatology 2018;22(6):401-404
Objective To explore how leptin affects RA,especially those with joint erosion.Methods The study recruited 48 consecutive patients with RA (14 patients with knee joint effusion) and 23 age and sex matched healthy people.RA patients were grouped into low and moderate activity group [2.6<28-joint disease activity score (DAS28) ≤5.1,n =5] and high activity group (DAS28 >5.1,n =43) according DAS28-ESR;Meanwhile,they were grouped into bone erosive group (n=20) and non-erosive group (n=28) according to X-ray of both hands.Demographic data of RA patients were recorded.ELISA was applied to assess leptin and a disintegrin and metalloproteinase with thrombospondin-like motifs (ADAMTS4) in serum and synovial fluid of RA group.Sharp/van der Heijde scores were used to assess bone erosion and joint space narrowing.Leptin and ADAMTS4 from serum and synovial fluid were compared between different groups using t test,Rank sum test,Chi-square test and Analysis of Variance,and we did Pearson and Spearman's Corre-lation analyses between these values and clinical features,lab indicators and radiological scores.Moreover,we did single factor and logistic regression analyses,which facilitated screening risk factors of joint destruction.Results Serum leptin in RA group was significantly higher than that of the control group [8.06(6.24) ng/ml vs 4.62(7.13),Z=-2.113,P=0.035],and leptin was positively correlated with Shar/van der Heijde score (r=0.347,P=0.016).Serum leptin in erosive RA patients was higher than that of the non-erosive patients (Z=-2.070,P=0.038),and there was a positive correlation between leptin and ADAMTS4 only in synovial fluid of RA patients with erosion (r=0.900,P=0.037).It was found in logistic regression results that RA patients with more tender joint counts and elevated leptin were more likely to develop bone erosion [OR=1.229,95%CI (1.007,1.500),P=0.043;OR=1.159,95%CI (1.015,1.324),P=0.030].Conclusion Leptin participates RA joint destruction probably by modulating expression of ADAMTS4.Leptin and tender joint count are independent risk factors for RA with joint destruction.
9.Progress of gastrointestinal involvement in systemic sclerosis
Hongyan LI ; Lin YANG ; Jingjing HE ; Yanru WANG ; Aijing LIU
Chinese Journal of General Practitioners 2017;16(9):725-728
Systemic sclerosis is an autoimmune disease characterized by skin thickening and tightness.Digestive system is the most commonly damaged system secondary to skin,and as to unspecific clinical manifestations,this complication is often ignored in the early,the prognosis and quality of life of patients will be affected.This article overviews the recent research developments on pathology,clinical features,management of systemic sclerosis with digestive system involvement,to draw attention to early diagnosis and treatment of this condition for the improvement of the prognosis.
10.Constituent analysis,analgesic and anti-inflammatory activities of leaves essential oil of Schef f lera octophylla
Suqiu PANG ; Xiaoqin JIN ; Aijing SUN ; Guoquan WANG ; Ruian XU
Journal of Pharmaceutical Practice 2016;(1):56-58,78
Objective To investigate the constituents and analgesic and anti‐inflammatory effects of leaves essential oil in Schef fleraoctophylla .Methods SOLEO was dilated by water vapor .The mouse acetic acid‐induced twisting test and mouse auricle swelling test induced by xylene were employed to evaluate the anti‐ inflammation and analgesia effects of SOLEO . Results 55 constituents of SOLEO were identified by GC‐MS .The major constituents ,4‐terpenol ,(‐)‐spthulenol ,caryo‐phllene oxide andβ‐linalool with total percent of 51 .86% were found .The twisting number and relieve swollen auricle of mice induced by xylene were significantly reduced by SOLEO .Conclusion SOLEO was the major active components of anti‐inflam‐mation and analgesia .

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