1.Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Hui XI ; Qin LIU ; Dong Hua XIE ; Xu ZHOU ; Wang Lan TANG ; De Guo TANG ; Chun Yan ZENG ; Qiong WANG ; Xing Hui NIE ; Jin Ping PENG ; Xiao Ya GAO ; Hong Liang WU ; Hao Qing ZHANG ; Li QIU ; Zong Hui FENG ; Shu Yuan WANG ; Shu Xiang ZHOU ; Jun HE ; Shi Hao ZHOU ; Fa Qun ZHOU ; Jun Qing ZHENG ; Shun Yao WANG ; Shi Ping CHEN ; Zhi Fen ZHENG ; Xiao Yuan MA ; Jun Qun FANG ; Chang Biao LIANG ; Hua WANG
Biomedical and Environmental Sciences 2023;36(2):127-134
OBJECTIVE:
This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province.
METHODS:
We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed.
RESULTS:
The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α 3.7/αα (50.23%) and β IVS-II-654/β N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively.
CONCLUSION
Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
Humans
;
beta-Thalassemia/genetics*
;
alpha-Thalassemia/genetics*
;
Hemoglobinopathies/genetics*
;
China/epidemiology*
;
High-Throughput Nucleotide Sequencing
2.An evidence-based clinical guideline for the treatment of infectious bone defect with induced membrane technique (version 2023)
Jie SHEN ; Lin CHEN ; Shiwu DONG ; Jingshu FU ; Jianzhong GUAN ; Hongbo HE ; Chunli HOU ; Zhiyong HOU ; Gang LI ; Hang LI ; Fengxiang LIU ; Lei LIU ; Feng MA ; Tao NIE ; Chenghe QIN ; Jian SHI ; Hengsheng SHU ; Dong SUN ; Li SUN ; Guanglin WANG ; Xiaohua WANG ; Zhiqiang WANG ; Hongri WU ; Junchao XING ; Jianzhong XU ; Yongqing XU ; Dawei YANG ; Tengbo YU ; Zhi YUAN ; Wenming ZHANG ; Feng ZHAO ; Jiazhuang ZHENG ; Dapeng ZHOU ; Chen ZHU ; Yueliang ZHU ; Zhao XIE ; Xinbao WU ; Changqing ZHANG ; Peifu TANG ; Yingze ZHANG ; Fei LUO
Chinese Journal of Trauma 2023;39(2):107-120
Infectious bone defect is bone defect with infection or as a result of treatment of bone infection. It requires surgical intervention, and the treatment processes are complex and long, which include bone infection control,bone defect repair and even complex soft tissue reconstructions in some cases. Failure to achieve the goals in any step may lead to the failure of the overall treatment. Therefore, infectious bone defect has been a worldwide challenge in the field of orthopedics. Conventionally, sequestrectomy, bone grafting, bone transport, and systemic/local antibiotic treatment are standard therapies. Radical debridement remains one of the cornerstones for the management of bone infection. However, the scale of debridement and the timing and method of bone defect reconstruction remain controversial. With the clinical application of induced membrane technique, effective infection control and rapid bone reconstruction have been achieved in the management of infectious bone defect. The induced membrane technique has attracted more interests and attention, but the lack of understanding the basic principles of infection control and technical details may hamper the clinical outcomes of induced membrane technique and complications can possibly occur. Therefore, the Chinese Orthopedic Association organized domestic orthopedic experts to formulate An evidence-based clinical guideline for the treatment of infectious bone defect with induced membrane technique ( version 2023) according to the evidence-based method and put forward recommendations on infectious bone defect from the aspects of precise diagnosis, preoperative evaluation, operation procedure, postoperative management and rehabilitation, so as to provide useful references for the treatment of infectious bone defect with induced membrane technique.
3.Effects of Outdoor Temperature on Blood Pressure in a Prospective Cohort of Northwest China.
Shan ZHENG ; Min Zhen WANG ; Zhi Yuan CHENG ; Feng KANG ; Yong Hong NIE ; Xiu Ying MI ; Hai Yan LI ; Lan JIN ; Ya Wei ZHANG ; Ya Na BAI
Biomedical and Environmental Sciences 2021;34(2):89-100
Objective:
The relationship between outdoor temperature and blood pressure (BP) has been inconclusive. We analyzed data from a prospective cohort study in northwestern China to investigate the effect of outdoor temperature on BP and effect modification by season.
Methods:
A total of 32,710 individuals who participated in both the baseline survey and the first follow-up in 2011-2015 were included in the study. A linear mixed-effect model and generalized additive mixed model (GAMM) were applied to estimate the association between outdoor temperature and BP after adjusting for confounding variables.
Results:
The mean differences in systolic blood pressure (SBP) and diastolic blood pressure (DBP) between summer and winter were 3.5 mmHg and 2.75 mmHg, respectively. After adjusting for individual characteristics, meteorological factors and air pollutants, a significant increase in SBP and DBP was observed for lag 06 day and lag 04 day, a 0.28 mmHg (95%
Conclusions
This study demonstrated a significant negative association between outdoor temperature and BP in a high-altitude environment of northwest China. Moreover, BP showed a significant seasonal variation. The association between BP and temperature differed by season and individuals' demographic characteristics (age, gender, BMI), unhealthy behaviors (smoking and alcohol consumption), and chronic disease status (CVDs, hypertension, and diabetes).
Adult
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Blood Pressure/physiology*
;
China/epidemiology*
;
Environmental Exposure/statistics & numerical data*
;
Female
;
Humans
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Male
;
Middle Aged
;
Prospective Studies
;
Risk Factors
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Seasons
;
Temperature
4. Evaluation of red blood cell distribution width and platelet distribution width in combination with Glasgow Coma Score for the prognosis of patients with severe traumatic brain injury
Hui-min CHEN ; Meng-ya YAO ; Li-min HUANG ; Zhi-shu FENG ; Meng-meng WANG ; Shi-nan NIE
Journal of Medical Postgraduates 2020;33(5):493-497
ObjectiveAt present, there are few studies on prognostic indicators for patients with severe traumatic brain injury (STBI). This paper aims to explore its significance by analyzing the demographic characteristics of patients with STBI, as well as parameters such as clinical laboratory test indicators.MethodsA retrospective analysis was performed on 139 STBI patients admitted to the Department of Emergency Medicine, General Hospital of Eastern Theater Command from January 2017 to December 2018. According to the 28-day death event, the participants were divided into the survival group (n=108) and the death group (n=31). Indicators such as Glasgow Coma Score (GCS), red blood cell distribution width (RDW), platelet distribution width (PDW) and clot-related indicators were collected. Univariate and multivariate logistic regression were used to analyze the risk factors related to death, and receiver operating characteristic (ROC) curve was adopted to determine their prognostic values.ResultsThere were significant differences in GCS, RDW and PDW between the two groups. RDW (OR=4.577, 95% CI: 1.704-12.291), PDW (OR=1.346, 95% CI: 1.093-1.657) and GCS (OR=0.469, 95% CI: 0.301-0.730) were risk factors for death of STBI patients. The area under the curve (AUC) of RDW, PDW and GCS scores were 0.735 (0.640-0.840), 0.675 (0.553-0.796) and 0.737 (0.638-0.837), respectively, and the AUC of the combination of the three was 0.840 (0.748-0.932), which was significantly better than that of single diagnosis.ConclusionRDW, PDW combined with GCS can effectively evaluate the prognosis of patients with STBI, which has important guiding value for clinicians′ diagnosis and treatment.
5.Effects of XPO1 Inhibitor KPT-8602 on Proliferation and Apoptosis in U937 cells
Xiao-hui XIAO ; Yi-qing LI ; Ke-zhi HUANG ; Shuang-feng XIE ; Jie XIAO ; Li-ping MA ; Song-mei YIN ; Da-nian NIE
Journal of Sun Yat-sen University(Medical Sciences) 2019;40(1):37-45
【Objective】To explore the effects and the possible mechanism of KPT- 8602,a novel selective inhibitor of nuclear export protein (XPO1),on proliferation,cell cycle and apoptosis in human histiocytic lymphoma cell line U937 cells.【Methods】U937 cells were treated with different concentrations of KPT- 8602. Cell viability was assessed by CCK-8 assay. The cell cycle distribution and the apoptosis rate were analyzed by flow cytometry. The proteins expression of XPO1,p-AKT,AKT,Cleaved Caspase-3,p21 were determined by Western blot. Fluorescence microscope was used in observing the intracellular location of XPO1. 【Results】 KPT- 8602 inhibited the growth of U937 cells in a dose- dependent(P<0.001)and time- dependent manner(P<0.001),but normal PBMC were unaffected. 48 h after treatment with KPT-8602,a higher proportion of cells in G1 phase was observed(P<0.001)and the apoptosis rate increased(P=0.016)with drug concentration in U937 cells. XPO1 protein expression of U937 cells was significantly higher than normal PBMC(P=0.003). 48 h after treatment with KPT- 8602,the protein expression of XPO1 decreased(P=0.011),p-AKT decreased(P=0.011),and Cleaved Caspase- 3 increased(P=0.009). In addition,the protein expression of p21,the cargo protein of XPO1,increased in both the nuclei and the cytoplasm(P<0.05)after treatment with KPT- 8602. XPO1 decreased in both the nuclei and the cytoplasm under the fluorescence microscope after treatment with KPT- 8602.【Conclusion】KPT- 8602 can inhibit the proliferation of U937 cells,block the cell cycle at G1 phase,and induce cell apoptosis,which may partially be attributed to the down-regulation of XPO1 and inhibition of PI3K/AKT signaling.
6. Advances in Studies on Chinese Materia Medica for Treatment of Sepsis Based on NF-κB Signal Pathway
Yu-lu MIAO ; Wen-zhi ZHANG ; Wen-xia ZHANG ; Min FENG ; Yong-hua YUE ; Chun-xia NIE ; Yan NI
Chinese Journal of Experimental Traditional Medical Formulae 2019;25(9):214-220
Sepsis is a kind of systemic inflammatroy response syndrome (SIRS) induced by severe infection,operation,and trauma,with high mortality rate,treatment cost,and high consumption of medical resources.It has caused a great burden to the medical industry and even the national economy.Therefore,it is urgent to find effective treatment methods for sepsis.At present,the sepsis has been treated with certain drugs pointing at its pathogenesis,such as antibiotics,glucocorticoids,and vasoactive drugs.,but the therapeutic effect is not ideal,with many side effects,poor prognosis,and high clinical mortality.Based on the overall macro-dialectical thinking mode,and with the unique effect and low side effect,traditional Chinese medicine (TCM) has attracted the attention from researchers and clinicians around the world for treatment of sepsis.In recent years,some traditional Chinese medicine prescriptions,Chinese patent medicines,single Chinese medicines and active ingredients are increasingly used as new drugs to prevent and treat sepsis.Such treatment methods have been widely recognized and have reduced the mortality and inflammatory indexes of patients to a certain extent,playing an important role in the prevention and treatment of sepsis.In this paper,the actions of nuclear factor kappa B (NF-κB) signal pathway in sepsis as well as the advances in research of NF-κB signal pathway-related proteins in Chinese medicine for sepsis were reviewed.
7.Expression and Clinical Significance of mPGES-1 and NF-κB p65 in Diffuse Large B Cell Lymphoma
Zhi-Yuan HE ; Shuang-Feng XIE ; Da-Nian NIE ; Song-Mei YIN ; Zhang-Hai HE ; Jie XIAO ; Li-Ping MA ; Yi-Qing LI
Journal of Sun Yat-sen University(Medical Sciences) 2018;39(1):73-81
[Objective]Examine the expression of microsomal prostaglandin E synthase-1(mPGES-1)and nuclear transcription factor kappa B p65(NF-κB p65)in diffuse large B cell lymphoma(DLBCL),assessing their correlation with clinical variables,prognosis and potential clinical valve.[Methods]The immunohistochemistry was uesd to investigate the expression of mPGES-1 and NF-κB p65 in 83 DLBCL patiens'tissues.The relationship between these two proteins and the clinical variables and prognosis of these patients was evaluated.[Results]The high expression of mPGES-1 and NF-κB p65 were observed in 65.1%(54/83)and 73.5%(61/83)cases of DLBCL,respectively.The expression level of NF-κB p65 was positively correlated with mPGES-1 expression(P<0.05).The expression of these two proteins was found to be significantly associated with B cell lymphoma/leukemia-2 protein(BCL-2),higher expression of Ki67,higher lactate dehydrogenase (LDH),more extranodal lesions,advanced Ann Arbor stage and higher international prognostic index(IPI)score(P<0.05). In addition,NF-κB p65 was related with multiple myeloma oncogene 1(MUM1),pathological type(P<0.05). Both mPGES-1 and NF-κB p65 overexpression was correlated with worse overall survival(OS)while NF-κB p65 was an in-dependent prognostic factor for OS of DLBCL(P<0.05).[Conclusions]mPGES-1 and NF-κB p65 were highly expressed in DLBCL and closely linked with each other. The overexpression of mPGES-1 and NF-κB p65 was correlated with tumor progression and unfavorable prognosis in patients with DLBCL.
8.Effects of soybean isoflavones on the energy metabolism of swimming mice.
Bing-Nan DENG ; Jing-Ran SUN ; Hong JIN ; Hong-Jing NIE ; Rui-Feng DUAN ; Lie LIU ; Zhi-Xian GAO ; Zhao-Li CHEN
Chinese Journal of Applied Physiology 2018;34(1):39-42
OBJECTIVE:
To establish an animal model for loaded swimming, so as to investigate the energy metabolism effects of soybean isoflavones (SI) on swimming mice.
METHODS:
Thirty male Kunming mice were randomly divided into three groups:normal control, swimming group, and swimming+SI group. The normal control group mice were fed a basic AIN-93M diet, the SI groups were supplied with soybean isoflavones(4 g/kg).Two weeks later, the mice were forced to swim for an hour,and then all the mice were killed, the samples of blood, liver and muscles of hind were collected.The serum contents of lactic acid(Lac), the activities of lactic dehydrogenase (LDH), succinate dehydrogenase (SDH), creatine kinase (CK) and ATPase were measured.
RESULTS:
Compared with normal control,the serum content of Lac was significantly improved in the group of the swimming control and SI(<0.05),the activity of LDH in the serum was obviously improved in the group of the swimming control and SI, and the activity of CK and SDH were both significantly improved in the group of the swimming control and SI except the activity of SDH in the liver of the group SI; compared with the swimming control,the serum contents of Lac,the activities of LDH, ATPase, SDH, CK were obviously improved(<0.05).
CONCLUSIONS
Soybean isoflavones can improve the energy metabolism,antioxidant capacity of the swimming mice.
Adenosine Triphosphatases
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blood
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Animals
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Creatine Kinase
;
blood
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Energy Metabolism
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Isoflavones
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pharmacology
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L-Lactate Dehydrogenase
;
blood
;
Lactic Acid
;
blood
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Male
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Mice
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Random Allocation
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Soybeans
;
chemistry
;
Succinate Dehydrogenase
;
blood
;
Swimming
9.Lineage switch from B cell to myeloid cell in the course of lymphoma treatment: three cases and literature review.
Wen Juan YANG ; Da Nian NIE ; Li Ping MA ; Xiu Ju WANG ; Yu Dan WU ; Shuang Feng XIE ; Jie XIAO ; Jie Yu WANG ; Hong Yun LIU ; Ke Zhi HUANG
Chinese Journal of Hematology 2018;39(6):518-520

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