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
;
beta-Globins/genetics*
;
Multigene Family
;
beta-Thalassemia/genetics*
;
Mutation
;
Genotype
;
Sequence Deletion
;
Phenotype
;
Male
;
Female
2.Effects of interactive Tuina on spatiotemporal gait parameters in children with spastic cerebral palsy
Xi FANG ; Chunxin XU ; Yunhui MI ; Kexing SUN ; Jue HONG
Journal of Acupuncture and Tuina Science 2024;22(4):289-296
Objective:To discuss the effects of walking function-guided interactive Tuina(Chinese therapeutic massage)on spatiotemporal gait parameters in children with spastic cerebral palsy(CP). Methods:Fifty children with spastic diplegic CP were divided into an observation group and a control group following a paired design and random number principle,with 25 cases in each group.The observation group was treated with the walking function-guided interactive Tuina,and the control group was offered the"six methods of spine and back"Tuina,20 min for each session and 5 sessions weekly for 3 consecutive months.The children's changes were assessed using the percentage of dimension E(walking,running,and jumping)of the gross motor function measure-88(GMFM-88)and three-dimensional gait analysis. Results:After treatment,the percentage of GMFM-88 dimension of dimension E(walking,running,and jumping)changed significantly in both groups(P<0.05),and the between-group difference was also statistically significant(P<0.05).After treatment,the step length,walking speed,and step frequency changed markedly in the observation group(P<0.05)and were significantly different from those in the control group(P<0.05).After the intervention,the stance phase and double support extended,and the swing phase became shorter in the observation group(P<0.05);the between-group differences were statistically significant(P<0.05).The maximal knee flexion angle and maximal posterior pelvic tilt angle decreased After treatment in the observation group,and the maximal anterior pelvic tilt angle increased,all showing statistical significance(P<0.05);the between-group differences were statistically significant(P<0.05). Conclusion:Compared with the passive Tuina manipulations,the"six methods of the spine and back",walking function-guided interactive Tuina has its advantage in improving walking function in children with spastic CP,manifesting as better lower-limb force line and walking efficiency.
3.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.
4.Exploration of antidepressant effect and mechanism of icariside Ⅱ based on GABAergic nervous system
Tingwang XIONG ; Jue ZHANG ; Chengxin SUN ; Caixia YIN ; Xi CHEN ; Faju CHEN
China Pharmacy 2024;35(2):145-149
OBJECTIVE To explore the antidepressant effect and potential mechanism of icariside Ⅱ (ICSⅡ) based on the GABAergic nervous system. METHODS The male Kunming mice were randomly divided into a control group (group C, 10 mice) and a modeling group (50 mice). The depression model was induced by chronic unpredictable mild stress (CUMS) method in the modeling group. After 21 days of stimulation, the rats of modeling group were randomly divided into depression model group (NS group), positive control group [ECS group, oxalate escitalopram 15 mg/(kg·d)] and ICSⅡ low-dose, medium-dose and high-dose groups [ICSⅡ-L group, ICSⅡ-M group, ICSⅡ-H group; ICSⅡ 10, 20, 30 mg/(kg·d)], with 10 mice in each group. Administration groups were given relevant medicine intragastrically, once a day, for 14 consecutive days. The sugar water preference rate, total exercise distance, immobility time in tail suspension and forced swimming experiments were detected in each group. The morphology of neurons and Nissl bodies in the hippocampal CA3 region were observed; the contents of γ-aminobutyric acid (GABA) and glutamic acid (Glu), GABA/Glu ratio, and the expressions of GABAergic nervous system-related proteins (GABA A receptor α1, GABA B receptor 1, vesicular GABA transporter, glutamate decarboxylase 67, GABA membranal transporter 3) were detected in hippocampus. RESULTS Compared with group C, the sugar water preference rate and the total exercise distance significantly reduced in NS group, while the values of immobility time in the tail suspension test and forced swimming test were significantly prolonged (P<0.05). The morphology of neurons in the CA3 area of the hippocampus was irregular and the Nissl bodies were reduced, with a significant decrease in the number of structurally intact neurons (P<0.05); the content of Glu was significantly increased, while the content of GABA, GABA/Glu ratio, and the expressions of GABAergic nervous system-related proteins were significantly decreased (P<0.05). Compared with NS group, depression behavior in each administration group was improved, and the above indexes were mostly reversed (P<0.05). CONCLUSIONS ICSⅡ can improve depression behavior of depression model mice. The mechanisms may be associated with regulating the balance of GABA and Glu, increasing the synthesis, transport and release of GABA, and regulating the expressions of GABA-related receptors, so as to improve GABAergic nervous system.
5.Preliminary exploration on operation process for autologous ozonized blood transfusion
Jianjun WU ; Yan BAI ; Yanli BAI ; Zhanshan ZHA ; Jing CHEN ; Yahan FAN ; Jiwu GONG ; Shouyong HUN ; Hongbing LI ; Zhongjun LI ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Jiubo LIU ; Jingling LUO ; Xianjun MA ; Deying MENG ; Shijie MU ; Mei QIN ; Hui WANG ; Haiyan WANG ; Qiushi WANG ; Quanli WANG ; Xiaoning WANG ; Yongjun WANG ; Changsong WU ; Lin WU ; Jue XIE ; Pu XU ; Liying XU ; Mingchia YANG ; Yongtao YANG ; Yang YU ; Zebo YU ; Juan ZHANG ; Xiaoyu ZHOU ; Xuelian ZHOU ; Shuming ZHAO
Chinese Journal of Blood Transfusion 2023;36(2):95-100
Autologous ozonized blood transfusion(AOBT) is a therapy of re-transfusion of 100-200 mL of autologous blood after shaking and agitation with appropriate amount of oxygen-ozone in vitro. The oxidation of blood through the strong oxidation of ozone can enhance the non-specific immune response of the body, regulate the internal environment and promote health. This therapy has been increasingly applied in clinical practice, while no unified standard for the operation process in terms of ozone concentration, treatment frequency and treatment course had been established. This operation process of AOBT is primarily explored in order to standardize the operation process and ensure its safety and efficacy.
6.Effect of electroacupuncture on enteric neuronal autophagy in functional constipation mice.
Meng-Han XI ; Lu WANG ; Wei ZHANG ; Qian-Hua ZHENG ; Hai-Yan QIN ; Xiang-Yun YAN ; Si-Jue CHEN ; Ying LI
Chinese Acupuncture & Moxibustion 2023;43(11):1279-1286
OBJECTIVES:
To explore the effect mechanism of electroacupuncture (EA) on functional constipation (FC) at the combined lower he-sea and front-mu points of large intestine based on enteric neuronal autophagy.
METHODS:
A total of 40 SPF Kunming mice were randomly divided into 5 groups (n = 8), i.e. a control group, a model group, an acupuncture group, a 3-methyl adenine (3-MA) group, and a 3-MA + acupuncture group. Except the control group, the FC model was established by gavage with compound diphenoxylate suspension for 14 days in the other 4 groups. After successful modeling, the mice of the acupuncture group and the 3-MA + acupuncture group received EA at bilateral "Tianshu" (ST 25) and "Shangjuxu" (ST 37), stimulated for 30 min with disperse-dense wave, 2 Hz/15 Hz of frequency, 1 mA of intensity. EA was delivered once daily. One course of treatment was composed of 5 days and 2 courses were needed, with an interval of 2 days. An intraperitoneal injection of 3-MA (15 mg/kg) was administered 30 min before EA in the mice of the 3-MA group and the 3-MA + acupuncture group, once daily. Before and after intervention, the time of the first black stool defecation and defecation behaviors in 6 h were observed in each group. After intervention, in every group, the small intestine propulsion rate was calculated, the colon tissue morphology was observed using HE staining, the ultrastructure of enteric neuronal autophagy was observed under transmission electron microscope, and the expressions of microtubule-associated protein 1 light chain 3 (LC3), Beclin-1 and neuronal nuclear antigen protein (NeuN) in neurons of colonic muscularis were determined by immunohistochemistry.
RESULTS:
Before intervention, when compared with those in the control group, the time of the first black stool defecation was prolonged (P<0.01, P<0.05), and numbers (P<0.01), wet weight (P<0.01, P<0.05) and water content (P<0.05, P<0.01) of stool in 6 h were reduced in the model, acupuncture, 3-MA and 3-MA + acupuncture groups. After intervention, compared with those in the control group, the time of the first black stool defecation was longer (P<0.05), and numbers (P<0.01), wet weight (P<0.01) and water content (P<0.01) of stool in 6 h were decreased in the model group. The time of the first black stool defecation was shortened (P<0.01), and numbers (P<0.01), wet weight (P<0.01) and water content (P<0.01) of stool in 6 h were increased in the acupuncture group when compared with those in the model group. The time of the first black stool defecation was extended (P<0.01), and numbers (P<0.01), wet weight (P<0.01) and water content (P<0.01) of stool in 6 h were declined in the 3-MA + acupuncture group in comparison with those in the acupuncture group. All layers of colon tissue were normal and intact in each group. When compared with the control group, the small intestine propulsion rate and the average optical density (OD) values of LC3, Beclin-1 and NeuN in neurons of colonic muscularis were decreased (P<0.01), and autophagosomes were dropped in the model group. In the acupuncture group, the small intestine propulsion rate and the average OD values of NeuN, LC3 and Beclin-1 in neurons of colonic muscularis increased (P<0.01,P<0.05), and autophagosomes were elevated when compared with those in the model group. The small intestine propulsion rate and the average OD values of NeuN, LC3 and Beclin-1 in neurons of colonic muscularis were dropped (P<0.05,P<0.01) in the 3-MA + acupuncture group in comparison with those in the acupuncture group.
CONCLUSIONS
Electroacupuncture may promote enteric neuronal autophagy and increase the number of neurons so that the intestinal motility can be improved and constipation symptoms can be relieved in FC mice.
Mice
;
Animals
;
Electroacupuncture
;
Beclin-1
;
Acupuncture Points
;
Constipation/therapy*
;
Intestine, Small
;
Autophagy
;
Water
7.Efficacy of Tuina plus Ba Duan Jin for primary dysmenorrhea due to cold-induced blood stasis
Jiali FU ; Xinxin TAN ; Yao LI ; Renzhen ZHANG ; Shengquan LONG ; Xi DING ; Jiaxin ZHANG ; Qiyu WEN ; Zhongzheng LI ; Jue HONG
Journal of Acupuncture and Tuina Science 2023;21(6):470-475
Objective:To observe the effect of Ba Duan Jin(Eight-brocade Exercise)plus Tuina(Chinese therapeutic massage)in treating primary dysmenorrhea due to cold-induced blood stasis in female college students and on the score of fatigue scale-14(FS-14). Methods:Seventy-two female college students with primary dysmenorrhea due to cold-induced blood stasis were randomized into a Tuina group and a joint group,with 36 cases in each group.The Tuina group only received Tuina manipulations.In the joint group,besides the same Tuina manipulations,patients practiced Ba Duan Jin.For both groups,the once-daily intervention was conducted from 6 d before the menstrual period until menstrual day 1 for 3 menstrual cycles.Changes in the scores of COX menstrual symptom scale(CMSS),visual analog scale(VAS),and FS-14 after the intervention were observed.Clinical efficacy was also estimated. Results:During the process,1 case dropped out in the Tuina group,and 35 cases completed the intervention;2 cases dropped out in the joint group,and 34 cases completed the intervention.The total effective rate was 94.1%in the joint group,higher than 88.6%in the Tuina group(P<0.05).After treatment,the symptom duration and intensity scores in the scores of CMSS,VAS,and FS-14 declined in both groups(P<0.05 or P<0.01);the CMSS symptom duration score and FS-14 score were lower in the joint group than in the Tuina group(P<0.05). Conclusion:Tuina manipulations alone or combined with Ba Duan Jin practice can effectively treat primary dysmenorrhea due to cold-induced blood stasis in female college students;when combined with Ba Duan Jin practice,Tuina manipulations can more significantly improve pain duration and fatigue,suggesting the advantages of combining Tuina Gongfa and manipulations.
8.Research progress on muscle spindle morphology.
Wen-Xi LIAN ; Jia-Sheng RAO ; Liu-Fang HAO ; Zi-Jue WANG ; Hong-Mei DUAN ; Zhao-Yang YANG ; Xiao-Guang LI
Acta Physiologica Sinica 2022;74(6):1039-1047
Muscle spindle is the key proprioceptor in skeletal muscles and plays important roles in many physiological activities, such as maintaining posture, regulating movement and controlling speed variation. It has significant clinical relevance and is emerging as a promising therapeutic target for the treatment of motor functional impairment and metabolic diseases. In this review, we summarized muscle spindle distribution and the mechanism of mechanical signal transmission, and reviewed the research progress on morphological and structural characteristics of muscle spindles.
Muscle Spindles/physiology*
;
Muscle, Skeletal/physiology*
;
Clinical Relevance
9.Summary of tools for assessment of public health emergency response capability.
Tao REN ; Meng FAN ; En Ci XUE ; Jian YANG ; Xiao Yun LIU ; Jue LIU ; Hao CHEN ; Chao Bo ZHAO ; Xi CHEN ; Xue Heng WANG ; Tao WU ; Yan GUO ; Zi Jun WANG ; Yong Hua HU
Chinese Journal of Epidemiology 2022;43(3):397-402
With the progress of globalization, the public health emergencies represented by major infectious diseases have become a major challenge for the public health management in China. The article briefly describes the emergency response capability assessment tools in China, and introduces two emergency response assessment tools with complete content structure and wide application in the world. Then the advantages and disadvantages of the tools are compared and discussed in order to provide reference for improvement of the assessment tools for public health emergency response capability in China.
China
;
Disaster Planning
;
Humans
;
Public Health
;
Public Health Administration
10.Visual analysis of literature knowledge structure and acupoint matching rules of acupuncture for depression.
Zhao-Yang SUN ; Xin-Jue SHAN ; Xiao-Yuan HUANG ; Xi-Bin XU ; Hai-Yan REN ; Yi GUO
Chinese Acupuncture & Moxibustion 2021;41(9):1049-1054
OBJECTIVE:
To analyze the literature knowledge structure and acupoint matching rules of acupuncture for depression.
METHODS:
The articles regarding acupuncture for depression published from January 1 of 1984 to October 19 of 2020 were searched in CNKI database. CiteSpace5.7.R2 software was used to import the literature data, and the keyword cluster analysis, emergence analysis and time-zone analysis of articles and acupoints were conducted, and the map of scientific knowledge was draw.
RESULTS:
A total of 3524 articles were included to the knowledge structure analysis, while 601 articles into the acupoint matching rules analysis. There were 13 keyword clusters of acupuncture for depression, with "post-stroke depression" and "electroacupuncture treatment" as high-frequency keywords, and "electroacupuncture treatment" and "Hamilton depression scale" had high centrality, and "electroacupuncture treatment" had the highest emergence intensity. The keywords such as "electroacupuncture treatment" and "Hamilton depression scale", etc. appeared the earliest, followed by "post-stroke depression", "fluoxetine" and "auricular point therapy", etc. According to traditional Chinese medicine theory, acupoint keywords were divided into four clusters: ①core acupoint, ②replenishing-spleen and dispelling phlegm, dispersing-liver and relieving depression, reinforcing
CONCLUSION
The main knowledge structure of acupuncture for depression includes five parts: treatment method, depression type, TCM-related diseases, literature type and curative effect index. Clinical acupoint matching should adhere to the principle of "focusing the disease before syndrome" and "combination of disease and syndrome", and treatment should be modified for the syndromes of phlegm stagnation blocking, liver-stagnation and
Acupuncture Points
;
Acupuncture Therapy
;
Depression/therapy*
;
Electroacupuncture
;
Medicine, Chinese Traditional

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