1.Allele Frequency and Distribution of Single Nucleotide Polymorphisms in Promoter Region of Gene Encoding the Kidd Blood Group Antigens.
Shuang LIANG ; Yu-Qing SU ; Yan-Lian LIANG ; Fan WU ; Hao ZHANG ; Wen-Xu HONG
Journal of Experimental Hematology 2020;28(1):300-306
OBJECTIVE:
To study the single nucleotide polymorphisms (SNPs) in promoter region of the Jk gene and its allele frequency as well as distribution characteristics in the Chinese Han nationality population.
METHODS:
127 blood samples containing 8 Jk(a-b-) and 119 samples (as control) taken randomly from voluntary blood donors of Chinese Han nationality persons in Shenzhen Blood Center were collected. The Kidd phenotypes were identified by using the serologic test and urea hemolysis test; the Jk promoter, exon 1-11 region and respective flanking area were amplified and sequenced, then the sequence information was analyzed.
RESULTS:
8 Jk(a-b-) samples all carried JkB/JkB allele which belongs to 2 kind of Jk genotypes commonly observed in Chinese Han nationality population. 6 IVS5-1g>a and 2 896G>A were found in 8 Jk(a-b-) samples. Besides, all Jk(a-b-) samples were homozygous for JkB/JkB allele. Three SNPs-110(rs900974), -160(rs1484877) and -258(rs1484878) in promoter region of the Jk gene were found and sequenceds calculation of allele and genotype frequencies showed that the result accorded with Hardy-Weinberg equilibrium, indicating that the population in this study possesses representative characteristics of the Chinese Han nationality population.
CONCLUSION
The polymorphism of the Jk gene occurs in promoter region. This study calculates the allele frequencies of three SNPs-110(rs900974), -160(rs1484877) and -258(rs1484878) in promoter region of the Jk gene, and shows their distribution characteristics in distinct Kidd phenotypes. These findings provide the basic foundation for further population genetics research.
2.Analysis of RUNX1 Gene Mutation in Patients with Myelodysplastic Syndrome.
Xiao-Hui CAI ; Mei-Yu CHEN ; Hong-Ying CHAO ; Nai-Ke JIANG ; Xu-Zhang LU ; Wen-Min HAN ; Wei QIN ; Zhu-Xia JIA
Journal of Experimental Hematology 2020;28(1):202-208
OBJECTIVE:
To investigate the mutation of RUNX1 gene in patients with myelodysplastic syndrome (MDS) and its correlation with other gene mutations and some clinical parameters.
METHODS:
The mutations of RUNX1, DNMT3A, TET2, IDH1/2, NPM1, FLT3-ITD and C-KIT in 170 patients with MDS were detected by direct and indirect sequencing of genomic DNA-PCR amplification products.
RESULTS:
The RUNX1 mutation was found in 23 patients (13.5 %, 23/170). Among the 170 patients, other most frequent mutation was TET2 (11.2%, 19/170), followed by mutations in DNMT3A (9.4%, 16/170), NPM1 (8.2%, 14/170), IDH2 (4.1%, 7/170)、FLT3-ITD (2.9%, 5/170), IDH1 (1.7%, 3/170) and c-KIT (0.58%, 1/170). The most common coexisting mutations were TET2 (5/23). The RUNX1-mutated group showed significantly higher leukocyte levels, higher percentages of blast cells, higher incidences of leukemia transformation and lower platelet counts in comparison with RUNX1 non-mutation group (P<0.05). whereas there were no statistically significant difference in age, MDS subtype, karyotype and hemoglobin level between 2 groups (P>0.05). Seventeen patients harboring RUNX1 mutations were followed up and almost 47.05% (8/17) of the patients progressed into acute myeloid leukemia (AML). The rates of transformation into AML in ASXL1-mutation group was significantly higher than that in ASXLL- non-mutation group (47.05% vs 11.7%) (P=0.001).
CONCLUSION
The incidence of RUNX1 mutation is high in MDS patients. The RUNX1-mutated patients have higher leukocyte level, higher percentages of blast cells, higher incidences of leukemia transformation and lower platelet count.
3.Analysis of Clinical Characteristics of Acute B Lymphoblastic Leukemia with EP300-ZNF384 Fusion Gene Positive.
Zi-Long YAO ; Yan-Fen LI ; Meng LI ; Yan LI ; Wen-Jun LI ; Hong-Hua LI ; Yang-Yang LIU ; Shao-Hang LIN ; Fu-Wei LI ; Juan ZHANG ; Yu JING
Journal of Experimental Hematology 2020;28(1):24-28
OBJECTIVE:
To investigate the clinical manifestations and laboratory features of B-ALL patients with EP300-ZNF384 fusion gene positive, so as to improve the understanding of this subtype disease.
METHODS:
The clinical data of 3 B-ALL patients with EP300-ZNF384 fusion gene positive admitted in Department of Hematology, the first medical center of Chinese PLA general hospital from February 2017 to February 2018 were collected and analyzed retrospectively. The clinical and laboratory characteristics as well as the therapentic outcome in B-ALL patients with EP300-ZNF384 fusion gene positive were analyzed.
RESULTS:
The fusion gene of EP300-ZNF384 was detected in 8.1%(3/37) of B-ALL patients. All cases showed the normal karyotype and aberrant CD13 and/or CD33 expression for immunophenotype. 3 patients were sensitive to traditional chemotherapy.
CONCLUSION
The B-ALL with EEP300-ZNF384 fusion gene positive may be a subgroup of B-ALL with a uniqe clinical characteristis and laboatorial features. EP300-ZNF384 positive patients show a good response to conventional chemotherapy, suggesting a favorable prognosis.
4.Exploration and practice of micro-video teaching of .
Xi-Yan GAO ; Min QIAO ; Da-Wei ZHANG ; Shan REN ; Li-Xing LAO ; Xu-Guang YANG ; Yi-Cai SHEN ; Ming-Chang ZHENG ; Yang LEI ; Xin-Wang CHEN ; Jing WEN
Chinese Acupuncture & Moxibustion 2020;40(1):103-105
In this paper, the micro-video teaching mode was explored in the course construction of . The micro-video teaching contents include the academic thought, experience in diagnosis and treatment, characteristic technology and clinical manipulation of famous acupuncture experts in the Henan University of CM. Each micro-video film is designed within 15-18 min, including three sections of knowledge, i.e. basic theory, technological application and clinical manipulation. Each section is designed within 5-6 min. The construction of the teaching course of is the innovation of practice mode of TCM and the new approach to the inheritance of the experience of experts. The construction of micro-video teaching course propels the reform of teaching mode, improves the learning initiative of students and clinical manipulative ability so as to improve the teaching effect and quality.
Acupuncture Therapy
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Humans
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Learning
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Moxibustion
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Students
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Teaching
5.Research progress on the role and mechanism of Wnt signaling pathway in neuropathic pain
Bi-rui WEN ; Zhi-ling ZHANG ; Nai-hong CHEN
Acta Pharmaceutica Sinica 2020;55(2):201-207
Neuropathic pain (NP), as a kind of chronic pain syndrome, seriously endangers the quality of life of patients, and the pathogenesis is complex, clinical treatment is limited, and it is easy to relapse. More and more reports have found that Wnt signaling pathway is closely related to the occurrence and development of neuropathic pain. Therefore, further study of the Wnt signaling pathway may provide useful ideas for exploring the pathogenesis of NP and discovering effective treatment methods. This article reviews the role and mechanism of Wnt signaling pathway in neuropathic pain.
6.Discussion on registry study of acupuncture-moxibustion for malignant pleural effusion.
Ye-Hong TIAN ; Jian-Xin ZHAO ; Jia LIU ; Xin JIANG ; Wen JIA ; Xue-Wei QI ; Qiao-Li ZHANG ; Li-Yun HE ; Jin-Chang HUANG
Chinese Acupuncture & Moxibustion 2020;40(2):217-220
Malignant pleural effusion (MPE) is one of the common complications of tumor. Acupuncture-moxibustion therapy has several advantages for treatment of MPE. Acupuncture is regarded as a complex individualized intervention, and its characteristics of TCM is difficult to be reflected by strict randomized controlled trials. The registry study provides more possibilities for the data collection of individualized diagnosis and treatment under the guidance of the overall concept and syndrome differentiation, and is more suitable for data management and collection of large samples and multi-center trials in the real-world study. It has become an opportunity to carry out real-world study of acupuncture for MPE. There are many challenges in the registry study of acupuncture for MPE. However, it is of great significance to collect real-world data of acupuncture for MPE to improve the clinical effect of MPE and provide a new clinical research method for acupuncture in tumors and related complications.
7.Clinical observation on the distribution characteristics and rules of pressing sensitive acupoints in bronchial asthma patients.
Qian-An CAO ; Hai-Feng ZHANG ; Lin-Hui LI ; Hong-Bin GONG ; Zhi-Wei DONG ; Li-Ming ZENG ; Wen-Guang CHEN ; Jun XIONG ; Yong FU
Chinese Acupuncture & Moxibustion 2020;40(2):169-172
OBJECTIVE:
To compare the distribution characteristics of pressing sensitive acupoints on the body surface between bronchial asthma (BA) patients and healthy subjects, and to analyze the distribution rules of pressing sensitive acupoints in BA patients.
METHODS:
Seventy BA patients and 70 healthy subjects were selected in this study. The pressing sensitive acupoints were checked with finger pulp and marked on human nerve segment graph. The numbers of pressing sensitive acupoints were counted and the positional relationship between distribution of pressing sensitive acupoints and the position of meridians and nerve segment was observed.
RESULTS:
(1) The incidence rates of pressing sensitive acupoints in BA patients group and healthy subjects group were 91.4% (64/70) and 15.7% (11/70) respectively, and the BA patients group was higher than the healthy subjects group (<0.01). (2) The top 3 meridians with pressing sensitive acupoints occuring in BA patients were bladder meridian of foot-, lung meridian of hand- and large intestine meridian of hand-, and the most frequent pressing sensitive acupoints were Feishu(BL 13), Xinshu(BL 15), Chize(LU 5) and Jueyinshu (BL 14). (3) The pressing sensitive acupoints in BA patients were distributed mainly on C, C and T-T nerve segment.
CONCLUSION
Pressing sensitive acupoints have a close correlation with physical condition, and there is a close relation between pressing sensitive acupoints distribution and corresponding meridians and nerve segments in BA patients.
8.GG Genotype at rs1275988 and rs2586886 Loci of TWIK-related Acid-sensitive K Channel-1 Gene is A Potential Risk Factor for Severe Obstructive Sleep Apnea.
De Lian ZHANG ; Tian SHI ; Xiao Guang YAO ; Mei LI ; Heizhati MULALIBIKE ; Xiu Fang LI ; Lu WEN ; Ling YAO ; Yuan Yuan HE ; Ying Chun WANG ; Jing HONG ; Nan Fang LI
Acta Academiae Medicinae Sinicae 2020;42(1):16-23
To explore the mechanism of obstructive sleep apnea(OSA) by assessing the association between human TWIK-related acid-sensitive K channel-1(TASK-1) gene and OSA. A total of 164 patients with severe OSA and 171 patients without OSA were recruited from the Hypertension Center of People's Hospital of Xinjiang Uygur Autonomous Region,China,from April to December 2016.Two single nucleotide polymorphisms(rs1275988 and rs2586886) in the TASK-1 gene were selected and genotyped using a Kompetitive Allele Specific PCR genotyping system. In patients with blood potassium <3.95 mmol/L,the distribution of rs1275988 alleles(G .A)(=4.474,=0.034) and recessive model(GG+GA .AA)(=4.327,=0.038) showed significant differences between severe and non-OSA groups.The distribution of rs2586886 alleles(G .A)(=6.345,=0.012) and dominant model(AA+GA .GA)(=4.431,=0.035) showed significant differences between severe and non-OSA groups.The Logistic regression analysis showed that the GG genotype was a risk factor for OSA patients with blood potassium <3.95 mmol/L(=7.854,95% :1.710-36.000,=0.008;=8.849,95% :1.816-43.117,=0.007). Both the GG genotypes of rs1275988 and rs2586886 in the TASK-1 gene may be potential risk factors in severe OSA patients with blood potassium <3.95 mmol/L.Serum potassium>3.95 mmol/L in patients with TASK-1 GG genotype may be conducive to reducing the incidence of severe OSA.
9.Sexual behavior characteristics and influencing factors of gonorrhea patients in Yunnan Province
Nan WANG ; Wan-yue ZHANG ; Yan GUO ; Xiu-jie ZHANG ; Xiao-bin ZHANG ; Qing-yan FANG ; Zhi-fang YANG ; Wen-qing CUI ; Yi HU ; Xing-fang SU ; Man-hong JIA
Chinese Journal of Disease Control & Prevention 2020;24(1):101-104
Objective To investigate the sexual behavior types, condom use and influencing factors of gonorrhea patients in Yunnan Province, and to provide evidence for the adjustment of sexually transmitted disease (STD) prevention and control strategy. Methods A cross-sectional study was carried out to investigate gonorrhea patients in 14 STD clinics in 7 more prevalent prefectures (cities) of Yunnan Province. A questionnaire survey was conducted to investigate the socio-demographic and sexual characteristics of the patients in a one-to-one way. Multiple Logistic regression model was used to analyze the influencing factors of sexual behavior. Results A total of 179 cases of gonorrhea were investigated. The average age was (29.01±8.93) years old. 95.53% (171/179) patients were 40 years old and 88.27% were male patients (158/179). Unmarried patients accounted for 55.31% (99/179). Service and self-employed patients accounted for 34.64% (62/179) and 23.46% (42/179) respectively. The rate of sexual intercourse with opposite sex was 98.32% (176/179), the rate of men who have sex with men was 1.68% (3/179) and the rate of having more than two sexual partners was 27.93% (50/179). The rate of sexual intercourse between temporary partners, spouses/fixed partners and commercial partners were 53.07% (95/179), 37.99% (68/179) and 8.94% (16/179) respectively. Recent sexual activity had lower condom use rate, 17.89% (17/95), 19.12% (13/68) and 18.75% (3/16) respectively. The main ways for gonorrhea patients to make temporary partners were friend introductions or gatherings, accounting for 66.32% (63/95). Condom use in male patients was worse than that in female patients (OR=0.234, 95% CI: 0.084-0.656, P=0.006). Conclusions The patients with gonorrhea were mainly unmarried young adults. The main risk behaviors were unprotected behaviors between heterosexual temporary and spouse/fixed sexual partners. The condom use consciousness was generally low. The promotion of safe sex education for young adults should be further strengthened, with special attention to the use of condoms for temporary sexual behavior and spouse/fixed sexual intercourse.
10. Characteristics of FLT3 gene mutation and clinical efficacy of tyrosine kinase inhibitor in patients with mixed phenotype acute leukemia
Yu ZHANG ; Yang ZHANG ; Fang WANG ; Mingyu WANG ; Hong LIU ; Panxiang CAO ; Xiaoli MA ; Xue CHEN ; Wen TENG ; Xian ZHANG ; Mangju WANG ; Hongxing LIU
Journal of Leukemia & Lymphoma 2020;29(1):37-40
Objective:
To analyze the incidence and mutation characteristics of FLT3 gene mutation and clinical efficacy of tyrosine kinase inhibitor (TKI) in patients with mixed phenotype acute leukemia (MPAL).
Methods:
A total of 48 patients with MPAL who were admitted to Hebei Yanda Lu Daopei Hospital from June 2015 to February 2018 were retrospectively analyzed. The common mutated 58 genes in hematologic malignancies were detected by using amplicon-targeted next generation sequencing, of which internal tandem duplication (ITD) and point mutation occurred in the hotspot region of exon 14, 15 and 20 in FLT3 gene. Multiplex polymerase chain reaction (PCR) analysis was used to detect 35 gene fusions in hematological neoplams.
Results:
There were 7 cases of FLT3 mutation in 48 MPAL patients, which were all ITD mutations. The median length of the inserts of FLT3-ITD was 48 bp, and one MPAL patient carried 2 multiple length inserts simultaneously, and the median variant allele frequency (VAF) was 40.5% (7.9%-84.7%). There were no statistically significant differences in clinical and genetic characteristics between FLT3 mutation-positive and FLT3 mutation-negative MPAL patients (both

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