1.Identification of Rare 3.5 kb Deletion in the β-Globin Gene Cluster.
Yun-Hua FAN ; Cui-Lin DUAN ; Sai-Li LUO ; Shi-Jun GE ; Chong-Fei YU ; Jue-Min XI ; Jia-You CHU ; Zhao-Qing YANG
Journal of Experimental Hematology 2025;33(1):175-179
OBJECTIVE:
To identify the gene mutation types of 4 suspected β-thalassemia patients in Yunnan Province, and to analyze the genotypes and hematological phenotypes.
METHODS:
Whole genome sequencing was performed on the samples of 4 suspected β-thalassemia patients from the Dai ethnic group in a thalassemia endemic area of Yunnan Province, whose hematological phenotypes were not consistent with the results of common thalassemia gene mutations. The mutations of β-globin gene clusters were confirmed by polymerase chain reaction (PCR) and Sanger DNA sequencing technology.
RESULTS:
The 3.5 kb deletion in β-globin gene cluster (NC_000011.10: g. 5224302-5227791del3490bp) was detected in 4 patients' samples, of which 1 case was also detected with HbE mutation and 1 case with CD17 mutation. These 2 patients displayed moderate anemia phenotype, while the two patients with only the 3.5 kb deletion presented with other mild anemia phenotype.
CONCLUSION
Heterozygous carriers with rare 3.5 kb deletion of the β-globin gene cluster may develop mild anemia, compound mutations of the 3.5 kb deletion with other mutations may led to intermediate thalasemia with moderate to sever anemia. In areas with a high incidence of thalassemia, suspected patients should undergo genetic testing to avoid missing or misdiagnosing rare mutations.
Humans
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beta-Globins/genetics*
;
Multigene Family
;
beta-Thalassemia/genetics*
;
Mutation
;
Genotype
;
Sequence Deletion
;
Phenotype
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Male
;
Female
2.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
3.Acupuncture plus bloodletting therapy for insomnia in blood stasis constitution: a clinical study
Li-Na KAN ; Na-Na HUANG ; Ya-Jun CHEN ; Xi-Jun HE ; Min FAN ; Zhao SUN ; Jue HONG
Journal of Acupuncture and Tuina Science 2018;16(1):38-42
Objective: To observe the clinical efficacy of acupuncture plus bloodletting therapy in treating insomnia in people with blood stasis constitution. Methods: Seventy-two patients were randomized into a treatment group and a control group by using the random number table, 36 cases each. The treatment group received acupuncture plus bloodletting therapy, while the control group was intervened by oral administration of estazolam. One-week treatment was taken as a course, for 3 successive courses in total. A follow-up study was conducted 3 months later. The Pittsburgh sleep quality index (PSQI) was evaluated before and after the intervention, as well as in the follow-up. The clinical efficacies were also compared. Results: The total effective rate was 88.9% in the treatment group versus 83.3% in the control group, and the between-group difference was statistically significant (P<0.05). After the intervention, the PSQI scores dropped significantly in both groups (both P<0.05); the between-group difference in PSQI score was statistically significant (P<0.05). The follow-up study showed that the between-group difference in the global score of PSQI was statistically significant (P<0.05). Conclusion: Acupuncture plus bloodletting therapy can produce a more significant efficacy than oral administration of estazolam in treating insomnia in people with blood stasis constitution.
4.Impact of NF-kappaB inhibitor on STAT3 translocation in PC-3 prostate cancer cell line.
Chun-Yan LI ; Hua-Xin ZHAO ; Xi ZHANG ; Li CHU ; Jue-Min FANG ; Hui HAN ; Xi LIU ; Qing XU
National Journal of Andrology 2013;19(6):487-494
OBJECTIVETo observe the changes in the expressions of STAT3 and NF-KB in PC-3 cells after IL-6 stimulation and to verify the effects of the NF-KB inhibitor caffeic acid phenethyl ester (CAPE) on the expressions of p-STAT3 and IL-6 in the PC-3 prostate cancer cell line.
METHODSPC-3 prostate cancer cells were treated with IL-6 at 20 ng/ml for 5, 10, 20, 30 and 45 min. The protein and mRNA expressions of STAT3 and NF-kappaB were measured by Western blot and real time PCR, respectively, and the cell cycle was detected by flow cytometry. The PC-3 cells were exposed to TNF-alpha or TNF-alpha + CAPE, followed by determination of the IL-6 expression in the supernatant of the cells by ELISA and the expression of p-STAT3 by Western blot.
RESULTSAfter IL-6 stimulation, both the expression of p-STAT3 protein and the proliferation index of the PC-3 cells were significantly increased, and so were the expressions of IL-6 and p-STAT3 protein in the supernatant after TNF-alpha treatment (P < 0.05). TNF-alpha + CAPE induced statistically lower expressions of IL-6 and p-STAT3 than TNF-alpha alone (P < 0.05).
CONCLUSIONCAPE can inhibit IL-6 secretion induced by TNF-alpha in PC-3 cells and thus suppress STAT3 translocation. Therefore, by inhibiting the expression of NF-kappaB and affecting STAT3 and other related cell signaling pathways, CAPE may become a new therapeutic option for prostate cancer.
Caffeic Acids ; pharmacology ; Cell Line, Tumor ; Humans ; Interleukin-6 ; metabolism ; pharmacology ; Male ; NF-kappa B ; antagonists & inhibitors ; Phenylethyl Alcohol ; analogs & derivatives ; pharmacology ; Prostatic Neoplasms ; metabolism ; STAT3 Transcription Factor ; metabolism ; Signal Transduction ; drug effects ; Tumor Necrosis Factor-alpha ; pharmacology
5.Expression of hepatitis B virus e gene synthesized in Pichia pastoris and the immunological characterization of the product
Zhao-Xia LI ; Yun XI ; Guo-Qiang HONG ; Bo HU ; Min-Jian HANG ; Jue XU ; Lin LI ;
Chinese Journal of Laboratory Medicine 2003;0(09):-
Objectives To synthesize hepatitis B virus e gene which was suitable for yeast protein expression and express hepatitis B virus e antigen (HBeAg) in Pichia pastoris.Methods Using synonymous codons preferred by yeast usage on protein expression to replace some native codons of wild-type HBV e gene,the synthetic e gene (syneAg-gene) was achieved by a recursive PCR (rPCR).The syneAg- gene was inserted into the yeast expression vector pPICZ?A.The recombinant plasmid was transformed into GS115 yeast by electroporation.The yeast transformant induced by methanol expressed the HBeAg.Results The restriction analysis and DNA sequencing confirmed that the syneAg-gene was inserted to yeast pPICZ?A in correct orientation.SDS-PAGE,immunoblot and ELISA indicated that the secreted form of HBeAg was expressed by the yeast transformant.The expression level of HBeAg in the strain containing syneAg-gene was 63 mg/L.The titer of the recombinant HBeAg in culture superuatant was 1 :81 920 and the maximum OD (optical density) value of absorbance was 2.8 by ELISA.No cross reactivity between Pichia pastoris-derived HBeAg and anti-HBc antibody was found.Conclusion The recombinant HBeAg with high degree of specificity and immunoreactivity is expressed efficiently in Pichia pastoris.

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