1.The Investigation and Analysis of the Situation of COVID-19 Vaccination and Vaccination Willingness in HIV/AIDS Population in Yunnan Province
Songqin LYU ; Shan HUANG ; Litang MA ; Xiu WANG ; Hongtao ZHANG ; Qin LI ; Chunping WAN ; Zhengchao LYU
Journal of Kunming Medical University 2024;45(1):48-54
Objective To investigate the vaccination status and vaccination willingness of novel coronavirus in HIV/AIDS population in Yunnan.Methods From October 2021 to June 2022,a questionnaire survey was conducted among 2180 HIV/AIDS patients in Kunming,Qujing,Yuxi,Zhaotong,Puer,Baoshan,Lincang,Honghe,Wenshan,Xishuangbanna,Dali,Dehong and Nujiang prefectures.The questionnaire included age,sex,education,nationality,education level,vaccination,adverse reactions within 7 days after the vaccination,safety of COVID-19 vaccine,awareness of effectiveness,vaccination willingness and so on.Results Among the subjects,2109 completed 3 injections,accounting for 96.74%,and 71 were not vaccinated,accounting for 3.26% .Within 7 days of inoculation,local adverse reactions occurred in 116 cases,accounting for 5.50%,and systemic adverse reactions occurred in 56 cases,accounting for 2.66% .Injection site pain,fatigue and muscle pain accounted for the highest proportion of adverse symptoms in different sex,age and the Han nationality,while the proportion of minority adverse reactions was very low,and there was no difference among the different sex and age(P>0.05).The main reasons for the reluctance of HIV/AIDS population to be vaccinated were(recommended by doctors)that HIV/AIDS patients could not be vaccinated(67.61%)and may have serious adverse reactions after the vaccination(19.72%).The factors affecting the vaccination were found by logistic regression analysis,whether they were worried about infecting novel coronavirus(OR = 0.121,95% CI = 0.083~0.640,P<0.001)and how much they knew about COVID-19 vaccine(OR = 28.932,95% CI = 15.469~54.115,P<0.001),safety of vaccination(OR = 13.953,95% CI = 4.819~40.404,P<0.001)and belief in the preventive effect of vaccine(OR = 14.017,95% CI = 4.752~41.348,P<0.001)were significant factors affecting vaccination.Among the 13 prefectures and cities,Dehong(20),Zhaotong(21)and Lincang(14)had the largest number of unvaccinated people.Conclusion After the mass vaccination,the rate of adverse reaction in HIV/AIDS population is low,the symptoms are mild,the correct and scientific advice and guidance from doctors and the full understanding of the harmfulness of the disease,the safety,prevention and effectiveness of the vaccine are the key to complete vaccination and put an end to vaccine hesitancy.
2.Effects of akebiaquinata and dandelion extracts on intestinal oxidative stress in weaned rabbits
Junqiu ZHANG ; Yu CHEN ; Ziqing XIU ; Mgeni MUSA ; Xiaoyu JIANG ; Jingzhi LYU ; Yawang SUN
Chinese Journal of Veterinary Science 2024;44(10):2221-2233
This study aimed to explore the effects of akebiaquinata and dandelion extracts in impro-ving intestinal redox homeostasis in weaned rabbits.In the trial,120 35-day-old Ira rabbits weig-hing(1.22±0.08)kg were randomly divided into 4 groups according to the two-factor design,namely group C(basal diet),group D(basal diet+0.5%dandelion extract),group A(basal diet+0.5%akebiaquinata extract),and group DA(basal diet+0.5%dandelion extract+0.5%akebia-quinata extract),with 10 replicates in each group.The adapt period was one week and the experi-mental period was four weeks.At the last day,serum,liver tissue,jejunum and ileal mucosa samples were collected and stored for measurement.The results showed that:(1)First week,the average daily weight gain of group C was significantly lower than that of group D and group A(P<0.05),and the feed weight ratio was significantly higher than that of group D and group A(P<0.05).(2)The content of reactive oxygen species(ROS)in liver and serum was significantly reduced in akebiaquinata extract(P<0.01),and the content of serum ROS in dandelion extract was significantly reduced(P<0.01),and there were significant and extremely significant interac-tions in liver and serum,respectively.Extracts of akebiaquinata and dandelion were effective in re-ducing the levels of oxidative damage markers in tissues and serum,but increasing the content of malondialdehyde in liver tissues.(3)Akebiaquinata extract significantly increased the activity of glutathione peroxidase(GSH-Px)and total antioxidant capacity(T-AOC)in serum(P<0.01),and significantly reduced the activity of T-AOC in liver(P<0.01)and superoxide dismutase in je-junum and liver(P<0.05).Dandelion extract significantly increased the activity of T-AOC in ser-um and GSH-Px in jejunum(P<0.05).The extracts of akebiaquinata and dandelion had a signifi-cant interaction effect on peroxidase in serum(P<0.05).(4)The expression of Kelch-like ECH-as-sociated protein 1(Keap1)and NAD(P)H:quinone oxidoreductase 1(NQO1)genes in the jejunum was significantly and extremely significantly reduced by akebiaquinata extract.The extracts of ake-biaquinata and dandelion had significant interaction effects on ileal NQO1,Heme oxygenase1 and Superoxide dismutase 2(P<0.05)and Keap1(P<0.01).The expression of NQO1 gene in liver tis-sue was significantly reduced by akebiaquinata extract(P<0.05).Dandelion and Akebiaquinata ex-tracts can reduce the content of reactive oxygen species in vivo and alleviate oxidative damage.At the same time,dandelion and akebiaquinata extract can work together to regulate antioxidant gene expression and antioxidant enzyme activity through the Nrf2-Keap1 signaling pathway to maintain intestinal redox homeostasis and relieve intestinal oxidative stress.
3.Effect of Jingui Shenqiwan on Diabetic Osteoporosis in Mice via AGEs/RANKL/NF-κB Pathway Based on Theory of "Kidneys Governing Bones"
Yanling ZHANG ; Yalan HUANG ; Fan XIAO ; Xialin LYU ; Xiu LIU ; Yongjun WU ; Rong YU
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(14):11-20
ObjectiveTo investigate the effect of Jingui Shenqiwan on diabetic osteoporosis (DOP) in mice by regulating the advanced glycation end products (AGEs)/receptor activator of nuclear factor-κB ligand (RANKL)/nuclear factor-κB (NF-κB) signaling pathway based on the theory of "kidneys governing bones". MethodForty 6-week-old male and female skeletal-muscle-specific, dominant negative insulin-like growth factor-1 receptor (MKR) mice were selected and fed on a high-fat diet for eight weeks to establish the DOP model. The model mice were randomly divided into a model group, low- and high-dose Jingui Shenqiwan group (1.3, 2.6 g·kg-1), and an alendronate sodium group (0.01 g·kg-1), with 10 mice in each group. Additionally, 10 FVB/N mice of the same age were assigned to the normal group. The corresponding drugs were administered orally to each group once a day for four weeks. After the administration period, fasting blood glucose (FBG) measurement and oral glucose tolerance test (OGTT) were conducted. Kidney function and kidney index were measured. Renal tissue pathological changes were observed through hematoxylin-eosin (HE) and Masson staining. Immunohistochemistry was performed to assess the protein expression levels of AGEs, phosphorylated NF-κB (p-NF-κB), and RANKL in renal tissues. Western blot analysis was conducted to measure the expression of proteins related to the AGEs/RANKL/NF-κB signaling pathway, osteoprotegerin (OPG), and Runt-related transcription factor 2 (RUNX2) proteins in femoral bone tissues. ResultCompared with the normal group, mice in the model group exhibited significantly increased FBG (P<0.01), trabecular bone degeneration, abnormal bone morphological parameters, significantly increased area under the curve (AUC) of OGTT (P<0.01), enlarged kidney volume, significantly increased kidney function indicators and kidney index (P<0.01), disrupted renal glomeruli and renal tubule structures, significantly increased expression of AGEs, RANKL, and p-NF-κB/NF-κB in renal tissues (P<0.05), and significantly decreased expression of OPG and RUNX2 in femoral bone tissues (P<0.01). Compared with the model group, mice in the Jingui Shenqiwan groups showed a significant decrease in OGTT AUC (P<0.01). Histopathological analysis revealed alleviated structural lesions in renal glomeruli and renal tubules. Furthermore, the expression of AGEs, RANKL, and p-NF-κB/NF-κB in renal tissues was significantly reduced (P<0.05, P<0.01), and the expression of RUNX2 and OPG in femoral bone tissues was significantly increased (P<0.05, P<0.01). ConclusionJingui Shenqiwan can improve kidney function and downregulate the AGEs/RANKL/NF-κB signaling pathway to inhibit inflammatory reactions, thereby alleviating the symptoms of DOP in mice, demonstrating a therapeutic effect on DOP from the perspective of the kidney.
4.Erythropoietin promotes myocardial infarction repair in mice by improving the function of Sca-1+ stem cells.
Lin ZUO ; Duan-Duan LI ; Xiu-Xia MA ; Shan-Hui SHI ; Ding-Chao LYU ; Jing SHEN ; Wei-Fang ZHANG ; Er-He GAO ; Ji-Min CAO
Acta Physiologica Sinica 2023;75(1):36-48
Myocardial infarction (MI) is one of the leading causes of death in the world. With the improvement of clinical therapy, the mortality of acute MI has been significantly reduced. However, as for the long-term impact of MI on cardiac remodeling and cardiac function, there is no effective prevention and treatment measures. Erythropoietin (EPO), a glycoprotein cytokine essential to hematopoiesis, has anti-apoptotic and pro-angiogenetic effects. Studies have shown that EPO plays a protective role in cardiomyocytes in cardiovascular diseases, such as cardiac ischemia injury and heart failure. EPO has been demonstrated to protect ischemic myocardium and improve MI repair by promoting the activation of cardiac progenitor cells (CPCs). This study aimed to investigate whether EPO can promote MI repair by enhancing the activity of stem cell antigen 1 positive stem cells (Sca-1+ SCs). Darbepoetin alpha (a long-acting EPO analog, EPOanlg) was injected into the border zone of MI in adult mice. Infarct size, cardiac remodeling and performance, cardiomyocyte apoptosis and microvessel density were measured. Lin- Sca-1+ SCs were isolated from neonatal and adult mouse hearts by magnetic sorting technology, and were used to identify the colony forming ability and the effect of EPO, respectively. The results showed that, compared to MI alone, EPOanlg reduced the infarct percentage, cardiomyocyte apoptosis ratio and left ventricular (LV) chamber dilatation, improved cardiac performance, and increased the numbers of coronary microvessels in vivo. In vitro, EPO increased the proliferation, migration and clone formation of Lin- Sca-1+ SCs likely via the EPO receptor and downstream STAT-5/p38 MAPK signaling pathways. These results suggest that EPO participates in the repair process of MI by activating Sca-1+ SCs.
Animals
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Mice
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Ventricular Remodeling
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Erythropoietin
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Myocardial Infarction
;
Heart
;
Stem Cells
5.Evaluation of right ventricular function using two-dimensional speckle tracking echocardiography and analysis of the risk factors for right ventricular dysfunction in patients with silicosis.
Wei JIANG ; Shi Wen YU ; Xiu Zhang LYU ; Yu Guo SONG
Chinese Journal of Industrial Hygiene and Occupational Diseases 2023;41(7):523-528
Objective: To evaluate the right ventricular function using two-dimensional speckle tracking echocardiography (2-D STE) and analyze the associated risk factors of right ventricular dysfunction in patients with silicosis. Methods: All 104 patients with silicosis treated in the Department of Occupational Medicine and Toxicology in Beijing Chao-Yang Hospital, Capital Medical University from May 2021 to September 2022 were enrolled in this study in October 2022. The clinical information of patients such as general data, arterial blood gas analysis and pulmonary function test were collected. The right ventricular function of patients was evaluated by 2-D STE-derived right ventricular free wall longitudinal strain (RVFWLS) and conventional echocardiographic-derived parameters, including right ventricular fractional area change (RVFAC), tricuspid annular plane systolic excursion (TAPSE) and doppler tissue imaging-derived tricuspid lateral annular systolic velocity (S'), respectively. Based on their RVFWLS, the patients were divided into right ventricular dysfunction group and normal right ventricular function group. Risk factors for right ventricular dysfunction in patients with silicosis were analyzed using binary logistic regression analysis. Results: A total of 104 silicosis patients were enrolled, with aneverage age (65.52±11.18) years old, among whom including 57 cases diagnosed with stage Ⅰ/Ⅱ silicosis and 47 cases diagnosed with stage Ⅲ silicosis. 26 (25.00%) patients concurrent right ventricular dysfunction. The abnormal rates of RVFAC, TAPSE and S' in patients were 16.35% (17 cases), 21.15% (22 cases) and 6.73% (7 cases), respectively. The RVFAC and TAPSE in right ventricular dysfunction group were lower than those in normal right ventricular function group, and the incidence of pulmonary arterial systolic pressure ≥36 mmHg was higher than that in normal right ventricular function group (P<0.05). Logistic regression analysis showed that arterial partial pressure of oxygen (OR=0.932, 95%CI: 0.885-0.981, P=0.007) was the protective factor, and the forced expiratory volume in 1 second (FEV(1)) /forced vital capacity (FVC) ratio<70% (OR=5.484, 95%CI: 1.049-28.662, P=0.044) and stage Ⅲ silicosis (OR=6.343, 95%CI: 1.698-23.697, P=0.007) were the risk factors for silicosis patients concurrent right ventricular dysfunction. Conclusion: The incidence of right ventricular dysfunction is higher in patients with stage Ⅲ silicosis than that in patients with stage Ⅰ/Ⅱ silicosis. Using 2-D STE can help the early detection of silicosis with right ventricular dysfunction. Hypoxemia, airflow limitation and the stage Ⅲ silicosis are the risk factors for silicosis patients concurrent right ventricular dysfunction.
Humans
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Middle Aged
;
Aged
;
Ventricular Dysfunction, Right/etiology*
;
Ventricular Function, Right
;
Echocardiography
;
Risk Factors
;
Silicosis/diagnostic imaging*
6.Percutaneous vertebroplasty by percutaneous bi-level bilateral puncture for treatment of type ⅡA acute symptomatic osteoporotic thoracolumbar fractures with dense bone bands
Fei MENG ; Shuyi XIU ; Min LIU ; Chengyu LYU ; Haining ZHANG ; Lixin LI
Chinese Journal of Orthopaedic Trauma 2023;25(1):43-50
Objective:To evaluate the efficacy of percutaneous vertebroplasty (PVP) by percutaneous bi-level bilateral puncture in the treatment of type ⅡA acute symptomatic osteoporotic thoracolumbar fracture (ASOTLF) with dense bone bands.Methods:From March 2017 to March 2018, 65 patients (65 vertebrae) with type ⅡA ASOTLF with dense bone bands were treated at Department of Orthopaedic Trauma, Qingdao Central Hospital. They were 25 males and 40 females, with an age of (71.6±8.4) years. The time from injury to operation was (3.5±0.7) d. They were divided into 2 groups according to different treatments. In the observation group of 31 cases (31 vertebrae), PVP was conducted by percutaneous bi-level bilateral puncture; in the control group of 34 cases (34 vertebrae), PVP was conducted by percutaneous single-level bilateral puncture. The 2 groups were compared in terms of operation time, volume of polymethyl methacrylate injected, incidence of bone cement leakage, incidence of vertebral refracture, diffusive distribution of bone cement in the vertebral body, and visual analogue scale (VAS) and Oswestry dysfunction index (ODI) at postoperative 1 day and 6 months.Results:There was no significant difference in the preoperative general data between the 2 groups, showing comparability ( P>0.05). Operations were completed uneventfully in all the 65 patients. All the 65 patients were followed up for (8.2±1.2) months. There was no significant difference between the 2 groups in operation time, incidence of bone cement leakage or incidence of vertebral refracture for each vertebral body injured ( P>0.05). The volume of polymethyl methacrylate injected [(6.64±0.93) mL] and the excellent and good rate of diffusive distribution of bone cement in the vertebral body [87.1% (27/31)] in the observation group were significantly larger than those in the control group [(4.36±0.79) mL and 64.7% (22/34)] ( P<0.05). The VAS scores at postoperative 1 day and 6 months [2 (1, 2) and 1 (1, 2)] and ODIs at postoperative 1 day and 6 months (23.7%±1.6% and 18.8%±1.4%) in the observation group were significantly lower than those in the control group [2 (2, 3) and 2 (2, 2); 26.9%±4.2% and 22.1%±3.3%] ( P<0.05). The VAS scores and ODIs at postoperative 1 day and 6 months in all patients were significantly lower than those before operation ( P<0.05). Compression symptoms of the spinal cord and nerve root were observed in none of the patients. Conclusion:In the treatment of type ⅡA ASOTLF with dense bone bands, PVP by percutaneous bi-level bilateral puncture is more effective than the traditional PVP by percutaneous single-level bilateral puncture, and will not increase bone cement leakage or vertebral refracture.
7.Metabonomics and its application in Chinese medicine processing.
Xin-Tong WEI ; Jie WANG ; Wei CHEN ; Yan-Ping WEI ; Yan-Hui LYU ; Xian-Peng ZU ; Xiu-Yun ZHANG
China Journal of Chinese Materia Medica 2022;47(3):593-602
Chinese medicine processing is a procedure to process medicinal materials under the guidance of traditional Chinese medicine(TCM) theories by using unique methods in China. The medicinal materials can only be used clinically after proper processing. With the development of the modernization of TCM, it is difficult to solve the problems in the inheritance, development, and internationalization of Chinese medicine processing. Metabonomics, a new omics technology developed at the end of the last century, is used to infer the physiological or pathological conditions of the organism with the methods such as NMR and LC-MS via investigating the changes in endogenous small molecule metabolic network after the organism is stimulated by external environment. Metabonomics coincides with the holistic view of TCM because it displays the characteristics of integrity, comprehensiveness, and dynamics, and it has been widely applied in the field of Chinese medicine processing in recent years. This study summarized the application of metabonomics in the processing mechanism and quality control of Chinese medicine processing and prospected the development of this technology in the field of Chinese medicine processing.
Chromatography, Liquid
;
Drugs, Chinese Herbal
;
Mass Spectrometry
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Medicine, Chinese Traditional
;
Metabolomics/methods*
;
Quality Control
8.Clinical treatment outcomes and their changes in extremely preterm twins: a multicenter retrospective study in Guangdong Province, China.
Bi-Jun SHI ; Ying LI ; Fan WU ; Zhou-Shan FENG ; Qi-Liang CUI ; Chuan-Zhong YANG ; Xiao-Tong YE ; Yi-Heng DAI ; Wei-Yi LIANG ; Xiu-Zhen YE ; Jing MO ; Lu DING ; Ben-Qing WU ; Hong-Xiang CHEN ; Chi-Wang LI ; Zhe ZHANG ; Xiao RONG ; Wei SHEN ; Wei-Min HUANG ; Bing-Yan YANG ; Jun-Feng LYU ; Hui-Wen HUANG ; Le-Ying HUO ; Hong-Ping RAO ; Wen-Kang YAN ; Xue-Jun REN ; Yong YANG ; Fang-Fang WANG ; Dong LIU ; Shi-Guang DIAO ; Xiao-Yan LIU ; Qiong MENG ; Yu WANG ; Bin WANG ; Li-Juan ZHANG ; Yu-Ge HUANG ; Dang AO ; Wei-Zhong LI ; Jie-Ling CHEN ; Yan-Ling CHEN ; Wei LI ; Zhi-Feng CHEN ; Yue-Qin DING ; Xiao-Yu LI ; Yue-Fang HUANG ; Ni-Yang LIN ; Yang-Fan CAI ; Sha-Sha HAN ; Ya JIN ; Guo-Sheng LIU ; Zhong-He WAN ; Yi BAN ; Bo BAI ; Guang-Hong LI ; Yue-Xiu YAN
Chinese Journal of Contemporary Pediatrics 2022;24(1):33-40
OBJECTIVES:
To investigate the clinical treatment outcomes and the changes of the outcomes over time in extremely preterm twins in Guangdong Province, China.
METHODS:
A retrospective analysis was performed for 269 pairs of extremely preterm twins with a gestational age of <28 weeks who were admitted to the department of neonatology in 26 grade A tertiary hospitals in Guangdong Province from January 2008 to December 2017. According to the admission time, they were divided into two groups: 2008-2012 and 2013-2017. Besides, each pair of twins was divided into the heavier infant and the lighter infant subgroups according to birth weight. The perinatal data of mothers and hospitalization data of neonates were collected. The survival rate of twins and the incidence rate of complications were compared between the 2008-2012 and 2013-2017 groups.
RESULTS:
Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of severe asphyxia and smaller head circumference at birth (P<0.05). The mortality rates of both of the twins, the heavier infant of the twins, and the lighter infant of the twins were lower in the 2013-2017 group compared with the 2008-2012 group (P<0.05). Compared with the 2008-2012 group, the 2013-2017 group (both the heavier infant and lighter infant subgroups) had lower incidence rates of pulmonary hemorrhage, patent ductus arteriosus (PDA), periventricular-intraventricular hemorrhage (P-IVH), and neonatal respiratory distress syndrome (NRDS) and a higher incidence rate of bronchopulmonary dysplasia (P<0.05).
CONCLUSIONS
There is a significant increase in the survival rate over time in extremely preterm twins with a gestational age of <28 weeks in the 26 grade A tertiary hospitals in Guangdong Province. The incidences of severe asphyxia, pulmonary hemorrhage, PDA, P-IVH, and NRDS decrease in both the heavier and lighter infants of the twins, but the incidence of bronchopulmonary dysplasia increases. With the improvement of diagnosis and treatment, the multidisciplinary collaboration between different fields of fetal medicine including prenatal diagnosis, obstetrics, and neonatology is needed in the future to jointly develop management strategies for twin pregnancy.
Bronchopulmonary Dysplasia/epidemiology*
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Female
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Gestational Age
;
Humans
;
Infant
;
Infant, Extremely Premature
;
Infant, Newborn
;
Pregnancy
;
Respiratory Distress Syndrome, Newborn/epidemiology*
;
Retrospective Studies
;
Treatment Outcome
9.Expression comparison and clinical significance of PD-L1 (22C3) and PD-L1 (SP142) in triple negative breast cancer.
Jing ZHANG ; Pei YUAN ; Hui Zai LEI ; Xiu Yun LIU ; Xin LI ; Jian Ming YING ; Guang Yi SUN ; Shu Lian WANG ; Ning LYU
Chinese Journal of Oncology 2022;44(3):260-267
Objective: To investigate the expression of programmed death ligand-1 (PD-L1, SP142) and PD-L1 (22C3) in triple-negative breast cancer (TNBC), and analyze their correlation with the clinicopathological factors and prognosis. Methods: The clinicopathologic data of 259 patients with TNBC treated in Cancer Hospital from August 2010 to December 2013 were collected. Whole section of surgical tissue samples were collected to conduct PD-L1 (SP142) and PD-L1 (22C3) immunohistochemical (IHC) staining. The PD-L1 expression in tumor cells and tumor infiltrating immune cells were visually assessed respectively, the relationship between PD-L1 expression and clinicopathologic characterizes were analyzed. Univariable and multivariable Cox proportional hazards regression models were used to test the correlations between PD-L1 expression and disease-free survival (DFS) and overall survival (OS). Results: The positive rates of SP142 (immune cell score, ICs≥1%) and 22C3 (combined positive score, CPS≥1) were 42.1%(109/259) and 41.3%(107/259) in TNBC tissues, respectively, with a total coincidence rate of 82.3%. The Kappa value of positive expression cases was 0.571 and the distribution difference of SP142 and 22C3 positive expression cases was statistically significant (P<0.001). The PD-L1 positive patients were less likely to have vascular invasion (P<0.05), but with higher histological grade and Ki-67 proliferation index (P<0.05). The recurrence/metastasis cases(8) of the patients with positive PD-L1 (SP142) was significantly lower than that of patients with negative PD-L1(SP142, 27, P=0.016). The positive expression of PD-L1 (SP142) patients were longer DFS (P=0.019). The OS of patients with positive PD-L1 (SP142) were longer than those with negative PD-L1 (SP142), but without significance (P=0.116). The positive expression of PD-L1 (22C3) was marginally associated with DFS and OS of patients (P>0.05). Conclusions: The expression of PD-L1 (22C3) is different from that of PD-L1 (SP142) in TNBC, and the two antibodies can't be interchangeable for each other in clinical tests. PD-L1 (SP142) status is an independent prognostic factor of DFS in TNBC. The DFS is significantly prolonged in patients with positive expression of PD-L1 (SP142).
B7-H1 Antigen/genetics*
;
Humans
;
Immunohistochemistry
;
Prognosis
;
Triple Negative Breast Neoplasms/pathology*
10.Correlation Analysis of FⅧGene Mutation and the Production of FⅧ Inhibitor with Severe Hemophilia A Patients in a Single Medical Center.
Lyu-Kai ZHU ; Xia-Lin ZHANG ; Xiu-E LIU ; Xiu-Yu QIN ; Gang WANG ; Lin-Hua YANG
Journal of Experimental Hematology 2022;30(5):1536-1540
OBJECTIVE:
To investigate the relationship between the type of FⅧgene mutation and the development of FⅧ inhibitors in patients with severe haemophilia A (HA).
METHODS:
The medical records of 172 patients with severe hemophilia A from January 2009 to September 2020 were reviewed. The types of FⅧgene mutations and the production of factor Ⅷ inhibitors were collected and divided into high-risk mutation group ( intron 1 inversions, large deletions, nonsense mutations), low-risk mutation group (missense mutations, small deletions and insertions, splice site mutations) and intron 22 inversions group. The correlation of FⅧgenotype and the production of FⅧ inhibitors in patients with HA were analyzed.
RESULTS:
Among 172 patients with severe HA, 21 cases(12.21%) developed FⅧ inhibitors. The cumulative incidence of FⅧ inhibitor development was 32%(10/31) in high risk group (75% patients with large deletions, 43% patients with intron 1 inversions, 20% patients with nonsense mutations) and 5%(2/43) in low risk group(6% patients with missense mutations, 5% patients with small deletions or insertions and 0% patient with a splice site mutation) and 9%(9/98) in intron 22 inversions group. Compared with the risk of FⅧ inhibitor development in intron 22 inversions group, the risk of FⅧ inhibitor development in high risk group was higher (OR=4.7, 95% CI: 1.7-13.0), the risk of FⅧ inhibitor development in low risk group was equal (OR=0.5, 95% CI: 0.1-2.3). Compared with the risk of inhibitor development in low risk group, the risk of FⅧ inhibitor development in high risk group was higher (OR=9.8, 95% CI: 2.0-48.7).
CONCLUSION
Gene mutations of patients with severe HA in high-risk group which include intron 1 inversions, large deletions, nonsense mutations are a risk factor for FⅧ inhibitor production.
Codon, Nonsense
;
DNA Mutational Analysis
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Factor VIII/genetics*
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Hemophilia A/genetics*
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Humans
;
Introns
;
Mutation

Result Analysis
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