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Objective:To compare the cost-effectiveness of hospitalized Chinese patients undergoing nucleic acid screening strategies for hepatitis B and hepatitis C, immunological screening strategy, and no screening strategy under different willingness to pay (WTP). The results might aid to decision-making for the optimal strategy.Methods:In this study, nucleic acid screening, immunological screening and no screening were used as screening strategies, and China′s GDP in 2021 (80 976 yuan) was used as the threshold of WTP to construct a Markov model. After introducing parameters related to the diagnosis and treatment of hepatitis B and C in inpatients, a cohort population of 100 000 inpatients was simulated by TreeAge Pro 2021 software, the total cost, total health effects, incremental cost-effectiveness ratio and average cost-effectiveness ratio of different screening strategies were calculated, and cost-effectiveness analysis was conducted. Univariate and probabilistic sensitivity analysis were used to assess the impact of parameter uncertainty on the final results.Results:Compared with the non-screening strategy, the incremental total cost of the hepatitis B immunological screening strategy for cohort patients was 11 049 536 yuan, and the incremental cost-effectiveness ratio was 24 762 yuan/quality-adjusted life years (QALY), while the total incremental cost of nucleic acid screening was 19 208 059 yuan, and the incremental cost-effectiveness ratio was 29 873 yuan/QALY; the incremental cost-effectiveness ratio of nucleic acid screening and immunological screening was 45 834 yuan/QALY. Compared with the non-screening strategy, the incremental cost-effectiveness ratio of hepatitis C immunological screening strategy was 5 731 yuan/QALY, the incremental cost-effectiveness ratio of nucleic acid screening strategy was 8 722 yuan/QALY, the incremental cost-effectiveness ratio of nucleic acid screening and immunological screening was 45 591 yuan/QALY. The results of probabilistic sensitivity analysis showed that when the cost of nucleic acid testing exceeded 214.53 yuan, it was not cost-effective to perform hepatitis B nucleic acid screening under the WTP as 1 fold GDP. When the cost of nucleic acid testing exceeded 132.18 yuan, it was not cost-effective to conduct hepatitis C screening under the WTP as 1 fold GDP.Conclusions:Nucleic acid screening strategy can achieve more cost-effectiveness and is worthy of vigorous promotion. Compared with no screening, both the nucleic acid and immunological screening strategies are cost-effective, and hepatitis nucleic acid screening is the optimal strategy for hospitalized patients.
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Objective:This multi-centre study was conducted to assess the efficacy of various preoperative/pre-transfusion screening methods for blood transmitted disease.Methods:From July 2021 to December 2021, plasma samples of patients admitted to 10 hospitals were collected for screening preoperative/pre-transfusion blood transmitted disease. Nucleic acid detection technology was used to detect hepatitis B virus (HBV) DNA, hepatitis C virus (HCV) RNA and human immunodeficiency virus (HIV)(1+2) RNA, and the results were compared with the immuno-serological methods. χ 2 test and Kappa test were used to analyze the efficacy of these two methods. Results:A total of 8 655 valid specimens were collected from 10 hospitals. There was a statistically significant difference in the positive detection rate of HCV between the two methods ( P<0.001). There was no significant difference in the positive detection rate of HBV and HIV assessed by the two methods ( P>0.05), but the number of positive cases detected by HBV DNA and HIV RNA (218 and 4 cases) was significantly higher than the corresponding serological results (216 and 2 cases). At the same time, there were HBV, HCV and HIV immuno-serological omissions by the immuno-serological methods, among which 28 cases were HBsAg negative and HBV DNA positive, 2 cases were HCV antibody negative and HCV RNA positive, and 2 cases were HIV antigen/antibody negative and HIV RNA positive. In addition, in the 66 samples with inconsistent results from the two detection methods, 83.3% (55/66), 68.2% (45/66), 63.6% (42/66) and 62.1% (41/66) of patients aged was>45 years, tumor, surgery and male, respectively. Conclusions:Compared with immuno-serological tests, nucleic acid tests have the advantage in terms of sensitivity on detecting HBV, HCV and HIV infection and could reduce missed detection. The risk of transmission can be reduced by adding HBV, HCV, and HIV nucleic acid tests to preoperative/pre-transfusion immuno-serological tests screening for patients over 45 years of age and tumor patients.
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Objective:To explore clinical value of nucleic acid detection for hepatitis B virus (HBV) screening in hospitalized patients.Methods:This cross-sectional study collected and analyzed plasma samples from patients admitted to 10 domestic medical institutions from July 2021 to December 2021. Serological immunoassay and nucleic acid screening were used to simultaneously detect hepatitis B markers such as hepatitis B surface antigen (HBsAg), hepatitis B surface antibody (HBsAb), hepatitis B e Antigen (HBeAg), hepatitis B e antibody (HBeAb), hepatitis B core antibody (HBcAb),and HBV DNA. Statistical analysis was performed on the serology, nucleic acid test results and clinical information of the patients.Results:Of the 8 655 collected samples, HBsAg was positive in 216 (2.50%) samples,HBV DNA was positive in 238 (2.75%) samples ( P>0.05); 210 (2.43%) samples were positive for both HBsAg and HBV DNA, 28 (0.32%) were HBsAg negative and HBV DNA positive, 6 cases (0.07%) were HBsAg positive and HBV DNA negative. Conclusion:These results indicate that the HBV DNA testing is equally effective as hepatitis B virus serological detection for hepatitis B virus screening in hospitalized patients.
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Extracellular signal-regulated kinase 1/2 (ERK1/2) is a serine/threoninekinase involved in the signal transduction cascade of Ras-Raf-mitogen-activated protein kinase (MEK)-ERK.It participates in the cell growth,proliferation and even invasion by regulating gene transcription and expression.The occurrence of a variety of diseases such as lung cancer,liver cancer,ovarian cancer,cervical cancer,endometriosis,and preeclampsia,as well the metastasis and disease progression,is closely associated with the regulation of cell invasion by ERK1/2 signaling pathway.Therefore,exploring the regulation of ERK1/2 signaling on cell invasion and its role in pathogenesis of diseases may help to develop more effective treatment schemes.This article introduces recent progress in the regulation of ERK1/2 signaling on cell invasion and the role of such regulation in diseases,with a view to give new insights into the clinical treatment of ERK 1/2-related diseases.
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Female , Pregnancy , Humans , Mitogen-Activated Protein Kinase 3 , Signal Transduction , Mitogen-Activated Protein Kinases , Cell Cycle , Cell ProliferationABSTRACT
【Objective】 To explore the factors affecting the prognosis of sepsis patients with blood transfusion, and provide safe and scientific blood transfusion recommendations for them. 【Methods】 The clinical data of 134 sepsis patients in our hospital from January 2018 to June 2021 were collected through retrospective analysis, and divided into the blood transfusion group (n=45) and non-transfusion group (n=89) according to whether they received transfusion or not. The basic clinical data and laboratory indicators of two groups were compared. According to the survival outcome and the occurrence of septic shock, patients in the blood transfusion group were subdivided into death group (n=17) and survival group (n=28), shock group (n=12) and non-shock group (n=33). Logistic regression analysis was used to analyze the risk factors that affect the survival outcome of septic patients after blood transfusion and the occurrence of septic shock. 【Results】 Statistical differences were noticed inblood transfusion group and the non-transfusion group by Hb (71.4±15.7 vs 100.6±21.9) g/L, PCT (13.7±27.2 vs 6.7±18.1) ng/mL, CRP (80.4±81.9 vs 46.6±67.1) mg/mL, APTT (43.4±22.6 vs 33.3±12.8) s, Fib (3.0±1.7 vs 4.0±1.7) g/L, LAC (3.4±4.2 vs 1.9±2.7) mmol/L, length of hospital stay (20.6±18.7 vs 14.1±10.9)d, and survival outcomes (P<0.05). Multivariate logistic regression analysis showed that red blood cell storage days (OR=0.183) and patient Hb level (OR=0.034) were risk factors that affected the survival outcome of sepsis patients after blood transfusion (P<0.05). 【Conclusion】 Compared with the non-blood transfusion group, the patients in the blood transfusion group had longer hospital stays, and different survival outcomes. The red blood cell storage days and Hb level of patients were the risk factors affecting the survival outcome of sepsis patients after blood transfusion, and RBCs with shorter storage period were suggested for sepsis patients.
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In order to solve the difficulties and challenges in the implementation of the original blood distribution and collection regulations caused by the expansion of hospital area, the extension of blood transfer time, the changeability of blood transfer environment, and the strain of personnel due to the increase of workload, as well as to ensure the accuracy of the information throughout blood remote verification and distribution and the safety of clinical blood transfusion, , Shanghai experts related to clinical transfusion and blood management had made a systematic study on the applicable scope and management rules of remote verification of blood distribution and collection, and formulated this Expert Consensus combined with the development status of digital, intelligent and remote communication technologies, so as to provide corresponding guidance for clinical medical institutions in line with the changes in reality.
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Objective To discuss the anatomical characteristics of the syndesmotic ligament based on MRI images, and to provide anatomical basis for clinical syndesmotic ligament injury and ligament reconstruction. Methods Totally 228 cases of MRI data from diseased person enrolled in the Orthopedics and Traumatology Department of the Affiliated Traditional Chinese Medicine Hospital of Southwest Medical University from January 2010 to May 2021 were retrospectively studied. Measurement of corresponding geometrical data of the ligaments in syndesmosis were analysed. Results The average length of the syndesmosis anterior ligament was (9. 75±3. 54) mm, the average width (7. 27±3. 09) mm, and the average thickness (2. 50± 0. 93 ) mm. The angle with the horizontal plane was ( 47. 49 ± 14. 60) ° ; The average length of the posterior syndesmosis ligament of the lower tibia and fibula was (8. 94±2. 43) mm, the average width was (6. 70±2. 80) mm, the average thickness was (2. 32±1. 10) mm, and the angle with the horizontal plane was (40. 84±13. 13)°; the average length of the inferior transverse ligament was (9. 81±3. 21) mm, the average width was (2. 28±1. 51) mm, and the angle with the horizontal plane was 14. 59° ± 8. 02°; the average length of the inferior tibiofibular syndesmosis interosseous ligament was (12. 92±4. 77) mm, and the average width was (3. 28±1.99) mm. The anatomical data of the anterior, posterior, inferior transverse, and interosseous ligaments of the lower tibiofibular syndesmosis, male and female, were compared, and the differences were not statistically significant. Conclusion Studying the anatomical structures and characteristics of the syndesmotic ligament and analyzing the effect of the syndesmotic ligament on the stability of the ankle joint can offer effective diagnostic means or suggestions of syndesmosis injuries in the clinically diagnose and treat.
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Obstructive sleep apnea hypopnea syndrome(OSAHS)is a group of diseases which occurred in the upper respiratory tract with transient, recurrent, partial or complete obstruction during night sleep. It can affect the regulation of hemodynamics, endocrine systems and autonomic nerve, and then result in the reduction of body oxygen saturation, chronic hypoxia and hypercapnia. Beside being an independent risk factor for cardiovascular and cerebrovascular diseases, many studies have shown that it is also associated with ocular surface diseases in OSAHS, such as floppy eyelid syndrome, dry eye, keratoconus, etc., but there is still a lack of perfect systematic analysis. This paper reviews the relationship between OSAHS and relevant ocular surface diseases including pathogenesis,clinical manifestations and treatment progress, in order to reduce the ophthalmic complications of OSAHS patients in clinical diagnosis and treatment,and better improve the quality of life of patients.
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Purpose@#The present study aimed to examine the molecular profiles of cytologically indeterminate thyroid nodules stratified by American College of Radiology Thyroid Imaging Reporting and Data System (TI-RADS) categories and to determine whether certain ultrasonographic features display particular molecular alterations. @*Methods@#A retrospective review was conducted of cases from January 1, 2016 to April 1, 2018. Cases with in-house ultrasonography, fine-needle aspiration Bethesda System for Reporting Thyroid Cytopathology (TBSRTC) diagnoses, molecular testing, and surgery were included. All cases were diagnosed as TBSRTC indeterminate categories. The ultrasound studies were retrospectively reviewed and assigned TI-RADS scores (TR1-TR5) by board-certified radiologists. The final diagnoses were determined based on the surgical resection pathology. Binary logistic regression analysis was used to study whether demographic characteristics, TI-RADS levels, and TBSRTC diagnoses were associated with ThyroSeq molecular results. @*Results@#Eighty-one cases met the inclusion criteria. RAS mutations were the most common alteration across all TI-RADS categories (TR2 2/2; TR3 10/19, TR4 13/44, and TR5 8/16), and did not stratify with any particular TI-RADS category. Only TR4 and TR5 categories displayed more aggressive mutations such as BRAFV600E and TERT. ThyroSeq results were positively correlated with thyroid malignancy when non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) was categorized in the malignant category (odds ratio [OR], 6.859; P<0.01), but not when NIFTP was removed from the malignancy category. Echogenicity scores were found to be negatively correlated with ThyroSeq results in thyroid nodules (OR, 0.162; P<0.01). @*Conclusion@#Higher-risk molecular alterations tended to stratify with the higher TI-RADS categories.
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Objective@#To monitor the incidence of spinal curvature abnormalities among primary and secondary school students in Tibet, and to analyze the factors influencing spinal curvature abnormalities among primary and secondary school students in Tibet.@*Methods@#This study was based on the surveillance and intervention of common diseases among students in Tibet in 2019, involving Lhasa, Shigatse, Nagqu, Chamdo, Shannan and Ali regions, using stratified random sampling, with one urban area and one county selected in each prefecture-level city, and a total of 19 023 primary and secondary school students were monitored. The spinal curvature of primary and secondary school students was statistically analyzed, and the influencing factors were analyzed by dichotomous Logistic regression.@*Results@#The number of detected spinal curvature abnormalities in primary and secondary school students was 223, with a detection rate of 1.17%. From the results of the χ 2 test, the differences in detection rates among students of different districts and gender varied significant ( χ 2=18.01, 8.07, both P <0.01). Multivariable Logistic regression showed that monitoring site, school section, gender, height, desk and chair allocation compliance rate, and average illumination of blackboard surface were associated with spinal curvature abnormalities in primary and secondary school students ( OR =5.44, 2.17, 2.46, 1.62, 1.02, 0.11, 1.00, all P <0.05).@*Conclusion@#Multiple measures should be taken to reduce the occurrence of spinal curvature abnormalities in primary and secondary school students, starting from the influencing factors.
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The use of immune checkpoint inhibitors (ICIs) has changed the clinical outcome of non-small cell lung cancer (NSCLC), with the widespread application of ICIs, immune-related adverse events (irAEs) have also appeared. Immune checkpoint inhibitor pneumonitis (CIP) is a serious adverse event of ICIs treatment that needs attention. Therefore, early identification of high-risk groups of CIPs and early intervention can reduce the occurrence of permanent drug withdrawal and severe CIPs, thereby improving patients′ prognosis.
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With continuous discovery of tumor immune targets and continuous changes in antibody research and development technology, antibody drugs are becoming more and more widely used in clinical practice. However, some targets are not only expressed on tumor cells, but also on red blood cells. Therefore, the clinical application of antibodies against the corresponding targets may interfere with the detection of blood transfusion compatibility, resulting in difficulty in blood matching or delay of blood transfusion. This consensus summarizes the current solutions for the interference of CD38 monoclonal antibody (CD38 mAb) in transfusion compatibility testing. After analyzing the advantages and disadvantages of different methods, polybrene and sulfhydryl reducing agents [dithiothreitol (DTT) or 2-mercaptoethanol (2-Me)], as a solution for CD38 mAb interference in blood compatibility testing, are recommended for Chinese patients, so as to eliminate blood transfusion interference produce by CD38 mAb and further provide a pre-transfusion workflow for clinicians and technicians in Department of Blood Transfusion.
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【Objective】 To analyze the effect of blood component transfusion when the results of direct antiglobulin test (DAT) changed from negative to positive after blood transfusion. 【Methods】 The data of 215 surgical blood recipients, who were admitted in our hospital from January to October 2019 and presented negative results for both DAT and irregular antibody screening (Anti-screening), were collected via Ruimei Laboratory Management System. DAT and Anti-screening were performed again after blood transfusion, and DAT positive patients(re-test positive group) were then subject to antibody classification and polybrene cross-matching (referred to as cross-matching), and Anti-screening positive patients were tested for irregular antibodies. Patients were stratified by perioperative RBCs transfusion volume as ≤4 U (150 ± 10% mL/U), >4 to 8 U and > 8 U, and DAT-negative patients after blood transfusion were set as the controls, and the transfusion effect of DAT-positive patients after blood transfusion was compared with them. 【Results】 8.84% (19/215) of DAT-negative patients turned positive after RBCs transfusion, among which IgG type accounted for 84.21% (16/19) and IgG+ C3 15.79% ( 3/19); two patients(anti-E and-M, 10.53%) were positive in anti-screening re-test and the rest were negative (89.47%, 17/19). As for cross matching, incompatibility of both primary and secondary side, primary side and secondary side accounted for 5.26% (1/19), 5.26% (1/19) and 10.52 (2/19), respectively, while 78.95% (15/19) showed compatibility of both primary and secondary side. The Hb, RBC and Hct values of the re-test positive group, received RBC transfusion volume (U)≤4 and >4~8, were effectively elevated compared with the controls (P8 U(P>0.05). 【Conclusion】 The conversion of DAT negative results to positive after RBC transfusion indicates the patient has developed antibodies or the incidence of blood transfusion reaction, which can provide references for the clinical choice of appropriate blood components to ensure the safety and effectiveness of blood transfusion.
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【Objective】 To standardize the application process of therapeutic plasma exchange (TPE) in Blood Transfusion Departments for neurological diseases. 【Methods】 Working procedures of 2 785 TPE sessions in 617 patients with neurological diseases, from January 2019 to May 2021, were analyzed and summarized. The experiences and methods during TPE, druing patient evaluation, protocol formulation and implementation, and the management of adverse reaction during or at the end of TPE were summarized to optimize the application process of each link. 【Results】 A systematic application process could standardize the responsibilities of blood transfusion physicians and neurologists in indication, adverse reaction and treatment program. During the TPE treatment, different degrees of adverse reactions were handled in time, providing a reliable guarantee for patient safety. 【Conclusion】 Standardized application process, as the basis for TPE implementation in neurologic diseases, is the premise of safety treatment for patients.
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【Objective】 To explore the role of NF-κB signaling pathway in the process of platelet storage on neutrophil-mediated human pulmonary microvascular endothelial cell injury, in order to further clarify the mechanism of platelet-mediated transfusion-related acute lung injury. 【Methods】 A co-culture system of human lung microvascular endothelial cells and neutrophils was established. A simple co-culture group and NF-κB inhibitor addition group were set up simultaneously, and then the platelet supernatant stored for 3 and 5 days were added. The expression levels of NF-κB pathway protein IκBα and cytokines (IL-6, IL-8, IL-1β and TNF-α) were detected, the cell death ratio (the number of dead cells/total number of cells) and the expression level of apoptotic protein Caspase 3 were calculated by Trypan blue staining. 【Results】 In the simple co-culture group with 5-day stored platelet supernatant added, the expression level of NF-κB pathway protein IκBα decreased significantly as the incubation time prolonged (simple co-culture 39 281.48±289.36 vs control 11 267.68±407.27, P0.05)when 5-day stored platelet supernatant was compared with 3-day stored one. The cell death rate(0.27±0.12 vs 3.33±0.31)and the expression level of apoptotic protein Caspase 3(17 821.11±611.55 vs 42 064.42±542.86)showed a significant increase(P0.05)as compared with the controls. Significant difference in the cell death rate of co-culture group with 5-day stored platelet supernatant added was observed as in comparison with the control (0.27±0.12 vs 1.26±0.11, P0.05). No significant difference was noticed in the expression level of apoptotic protein Caspase3(10 502.77±457.55 vs 10 424.16±471.53, P>0.05)when 5-day stored platelet supernatant was compared with 3-day stored one. 【Conclusion】 The NF-κB signaling pathway may be involved in storing platelets to regulate inflammation and apoptosis, thus affecting the process of neutrophil-mediated human pulmonary microvascular endothelial cell injury.
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Objective To investigate the expression of microRNA (miR)-513c-5p in cervical cancer and the mechanism of targeting histone deacetylase 1 (HDAC1) regulating cervical cancer cell migration and invasion. Methods Clinically collected 86 patients with cervical cancer. The levels of miR-513c-5p in tumor tissues and adjacent tissues were detected by Real-time PCR. The relationship between miR-513c-5p and pathological characteristics of cervical cancer was analyzed. It was verified that miR-513c-5p targets HDAC1 by a dual luciferase report. Cervical cancer HeLa cells were divided into four groups: control group, mimic group, mimic+HDAC1 group and HDAC1 group. MiR-513c-5p and(or) HDAC1 were overexpressed by plasmid transfection technology. Real-time PCR and Western blotting were used to detect the expression level of RNA or protein, respectively. The cell growth, migration, and invasion capabilities of each group were measured by CCK-8 method, cell scratch test, and Transwell test. Results The level of miR-513c-5p in cervical cancer tissues was significantly lower than that in adjacent tissues. Low levels of miR-513c-5p were associated with higher local invasion, lymphatic metastasis, and distal metastasis (P<0. 05). MiR-513-5p targeted HDAC1 expression. Overexpression of miR-513c-5p inhibited significantly the growth, migration and invasion of cervical cancer cells (P < 0. 05). Overexpression of HDAC1 promoted growth, migration and invasion (P<0. 05), and reversed the inhibitory effect of miR-513c-5p (P<0. 05). Conclusion Low levels of miR-513c-5p might be related to cervical cancer metastasis, and miR-513c-5p could inhibit the growth, migration and invasion of cervical cancer HeLa cells by targeted inhibition of HDAC1 protein expression.
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@#AIM: To evaluate the effectiveness of intravitreal bevacizumab(IVB)and ranibizumab(IVR)for the treatment of type 1 retinopathy of prematurity(ROP)by Meta-analysis.<p>METHODS: The PubMed, Embase, Web of Science, the Cochrane Library, CNKI, CQVIP, CBM, OVID and Wanfang were systematically searched. All comparative studies of IVB or IVR as treatment for ROP were included. Two independent reviewers performed the date extraction and assessed study quality. Meta-analysis was performed using Review Manager 5.3 software. The retreatment rate was defined as the primary outcome. Secondary outcomes were prevalence of complete vascularization and myopic(spherical equivalent, SE).<p>RESULTS: Eight non-randomized studies, including a total of 885 eyes were included in this study. Compared with IVB-treated children, IVR-treated children have higher retreatment rate \〖<i>OR</i>=0.55, 95% <i>CI</i>:0.34-0.88, <i>P</i><0.05\〗, less spherical equivalent \〖<i>WMD</i>= -1.44, 95% <i>CI</i>: -2.28 to -0.00, <i>P</i><0.05\〗, and the same percentage of complete vascularization \〖<i>OR</i>=2.15, 95% <i>CI</i>: 0.80-0.576,<i> P</i>>0.05\〗.<p>CONCLUSION: Both IVR and IVB can complete the vasculization of the retina in the treatment of type 1 ROP, but the two treatments have their own advantages. IVR has little effect on the refractive effect in children, but its effect in reducing the retreatment rate is worse than IVB.
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Objective:To study the efficacy of integrative medicine on congenital muscular torticollis. Methods:From October, 2017 to September, 2019, 80 children with congenital muscular torticollis were divided into group 1 (n = 40) and group 2 (n = 40) according to different treatment schemes. Group 1 received comprehensive physiotherapy, including passive stretching, head control training, posture correction and family rehabilitation. Group 2 received Tuina in addition. Before and six months after treatment, the root mean square (RMS) of surface electromyography of bilateral sternocleidomastoid muscles in supine neutral position, neck rotation and stretch, and the range of motion of passive neck rotation and lateral flexion, and the angle of head deviation from the midline to the affected side were compared. Results:Before treatment, the RMS of sternocleidomastoid muscle in each position was lower in the affected side than in the healthy side (P < 0.01), and the range of motion of neck when lateral flexion to the healthy side and rotation to the affected side was less than that of the other side (P < 0.01) in both groups; however, no significant difference was found between two groups (P > 0.05). After treatment, the RMS of EMG of sternocleidomastoid muscle in each position, and the range of motion of neck when lateral flexion to the healthy side and rotation to the affected side improved (|t| > 3.290, P < 0.01) in both groups, and were better in group 2 than in group 1 (t > 2.401, P < 0.05); the angle of head deviation from the midline to the affected side significantly decreaed (t > 15.075, P < 0.001) in both groups, and was significantly less in group 2 than in group 1 (t = -4.971, P < 0.001). Conclusion:Integrative medicine is effective on infant with congenital muscular torticollis, which is superior to comprehensive physiotherapy only.
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OBJECTIVE@#To investigate the correlation of single nucleotide polymorphisms (SNP) in arachidonate 5-lipoxygenase gene (ALOX5) rs2029253, rs2228064 and rs2228065 sites, 5-lipoxygenase activating protein gene (ALOX5AP) rs10507391, rs4769874 sites with the risk for genesis of adult myeloid leukemia.@*METHODS@#By the approval from the hospital ethics committee and the informed consent of participants. 150 patients with myeloid leukemia (ML) as ML group and 134 healthy people as the control group were selected. The genomic DNA was extracted from the samples. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) combined with directly sequencing, PCR-amplified products were applied to test the polymorphism of 5 sites in ALOX5 and ALOX5AP gene.@*RESULTS@#A allele frequencies of ALOX5 gene rs2029253 site in the ML group and the control group were 43.0% and 34.3%, respectively. And the G allele frequencies in the ML group and the control group were 57.0% and 65.7%, respectively. The genotype distributions of AA, AG and GG in ALOX5 gene rs2029253 site in the ML group were 32.2%, 21.5% and 46.3% respectively. That in the control group were 15.7%, 37.3% and 47.0% respectively. The genotype AA and A allele frequency of ALOX5 gene rs2029253 site were linked with the increased risk of myeloid leukemia (OR=2.26, 95% CI: 1.43-4.56, P＜0.05; OR=1.44, 95% CI: 1.02-2.03, P＜0.05). And the genotype AG and allele G reduced the susceptibility to myeloid leukemia (OR=0.46, 95% CI: 0.27-0.78, P＜0.01; OR=0.69, 95% CI: 0.50-0.98, P＜0.05), however, the polymorphisms of ALOX5 gene rs2228064 and rs2228065 site not correlated with the risk of myeloid leukemia (P＞0.05). The A allele frequency of ALOX5AP gene rs10507391 site in the ML group and the control group were 30.7% and 36.2% respectirely. The genotype distribution rates of AA, AT and TT in ALOX5AP gene rs10507391 site in the ML group was 1.3%, 58.7% and 40.0% respectively, that in the control group were 9.7%, 53.0% and 37.3% respectively. The genotype AA of ALOX5AP gene rs10507391 site correlated with the decreased risk of myeloid leukemia (OR=0.13, 95% CI: 0.03-0.57, P＜0.05), but the polymorphism of ALOX5AP gene rs4769874 site not correlated with the risk of myeloid leukemia (P＞0.05).@*CONCLUSION@#The genotype AA, AG and allele A, G of ALOX5 rs2029253, as well as ALOX5AP rs10507391 may be correlate with the susceptibility to myeloid leukemia.
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OBJECTIVE@#To analyze the molecular pathogenesis by analysis of phenotype and gene mutation in families with hereditary coagulation factor V (FⅤ) defect caused by complex heterozygous mutation.@*METHODS@#Plasma pro-thrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), FⅤ procoagulant activity (FⅤ∶C), FⅤ antigen (FⅤ∶Ag), and other related coagulation indexes were detected in the proband and his family members (3 generations 10 people). Using DNA direct sequencing to analyze all exons, flanks, 5' and 3' untranslated regions of F5 genes and the corresponding mutation site regions of family members, the mutation site was confirmed by reverse sequencing．The conservation of mutant amino acids was analyzed by ClustalX-2.1-win software. The PROVEAN and MutationTaster online bioinformatics software were used to predict the effect of mutation on protein function. Protein model and amino acid interaction at mutation sites was analyzed by Swiss-pdbviewer software.@*RESULTS@#The PT and APTT of the proband were significantly prolonged compared with healthy controls (34.2 vs 13.2 s and 119.3 vs 36.0 s), while FⅤ∶C and FⅤ∶Ag extremely reduced (3% and 6%). The PT and APTT of the second-born, the third son, daughter, and grandson of the proband were slightly prolonged, and the FⅤ∶C and FⅤ∶Ag decreased to varying degrees. The related coagulant parameters of other family members were within normal range. Genetic analysis revealed that the proband had a c.911G>A heterozygous missense mutation on the exon 6 lead to p.Gly276Glu, and a c.5343C>G heterozygous missense mutation on the exon 16 lead to p.Ser1781Arg of the proband. The second-born, the third son, and grandson of the proband carry p.Gly276Glu heterozygotes, and the daughter carries p.Ser1781Arg heterozygotes, while the other family members were wild-type. The results of conservative analysis indicated that p.Gly276 and p.Ser1781 were highly conserved in homologous species. The two bioinformatics software predicted the same results, PROVEAN (score -6.214 and -12.79) indicated that the compound heterozygous mutation was a harmful mutation; MutationTaster (score 0.976 and 0.999) suggested that these mutations might cause corresponding disease. p.Gly276Glu protein model analysis showed that, the Glu side chain was prolonged and the molecular weight became larger, which would increase the steric hindrance between it and the surrounding amino acids, affect the normal local folding of the FⅤ protein, and eventually lead to the decrease of protein activity and content. This paper can not provide analysis of the spatial structure of p.Ser1781Arg mutant protein because of the lack of X ray 3 D structure file of FⅤ exon 16.@*CONCLUSION@#The new compound heterozygous mutations (p.Gly276Glu and p.Ser1781Arg) identified in this study are the main reasons for the decrease in the FⅤ level of the family, among which p.Ser1781Arg is rarely reported at home and abroad.