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*
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Multigene Family
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beta-Thalassemia/genetics*
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Mutation
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Genotype
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Sequence Deletion
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Phenotype
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Male
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Female
2.Lumican and tumor therapy resistance
Ge HU ; Fan XIA ; Xueya WU ; Yun WANG ; Xiuli XU
Journal of International Oncology 2023;50(2):87-90
Lumican is a member of the small leucine-rich proteoglycan family, which is involved in cell processes related to tumorigenesis and development, such as epithelial-mesenchymal transition, cell proliferation, migration, invasion and adhesion. The expression of Lumican in different tumors is positively or negatively correlated with tumor progression, and can be used as a reference for tumor prognosis and efficacy evaluation. Further study of the correlation and potential mechanism between Lumican and tumor therapy resistance can provide new ideas for predicting clinical therapeutic efficacy.
3.The Brain Structure Volume Estimation Based on Synthetic MRI in Healthy Children and Youth
Yan DAI ; Ying-qian CHEN ; Shu SU ; Long QIAN ; Liu-hui WU ; Hong-yu ZHANG ; Miao FAN ; Zhi-yun YANG
Journal of Sun Yat-sen University(Medical Sciences) 2022;43(2):268-275
ObjectiveTo investigate the consistency of the brain structure volume estimation based on Synthetic MRI (SyMRI) and T1-FSPGR images in healthy children and youths. MethodsWe prospectively collected the brain SyMRI and T1-FSPGR images of 38 healthy children with age range of 6~13 years old and 30 healthy youths with age range of 22~26 years old. The Sythetic MR software and FreeSurfer software were used to measure the total gray matter volume (GMV), total white matter volume (WMV), brain parenchyma volume (BPV) and intracranial volume (ICV) based on SyMRI and T1-FSPGR images respectively. Paired t test, Pearson’s correlation analysis and interclass correlation coefficient (ICC) were used to evaluate the association between SyMRI and T1 derived measurements. ResultsThe volumes estimated by two methods in two groups showed differences in paired t test (P<0.05). Nevertheless, both in children and youths, the measurements of GMV, WMV, BPV and ICV all showed noticeable correlation and consistency between the two brain volume estimation methods [r values are 0.691, 10.577, 0.938, 0.796 in children group and 0.657, 0.623, 0.933, 0.881 in adult group, P<0.001; ICC95%CIs are 0.816 (0.647, 0.905), 0.732 (0.484, 0.861), 0.968 (0.938, 0.983) and 0.880 (0.770, 0.938] in children group and 0.751 (0.476, 0.881), 0.760 (0.496, 0.886), 0.962 (0.920, 0.982), and 0.936 (0.866, 0.970)in youth group]. ConclusionsThe brain segmentation and volume estimation based on SyMRI can acquire the measurements which have statistical difference but powerful association with that acquired from T1-FSPGR images, which suggests this new method have a good prospect for clinical use and scientific research.
4.Common susceptibility loci in both systemic sclerosis and localized scleroderma identified using genetic analysis.
Yun LI ; Wen-Jun WANG ; Wei-Wei CHEN ; Xue FAN ; Lu CAO ; Ze-Yu XING ; Qi ZHEN ; Qiong-Qiong XU ; Chen-Yu ZHU ; Hui-Yao GE ; Dian CHEN ; Rui-Xue ZHANG ; Chang SHU ; Wei DU ; Shi-Rui CHEN ; Xie YUAN ; Hui ZHANG ; Xia HU ; Xu-Ming MAO ; Qiu-Ning SUN
Chinese Medical Journal 2020;133(19):2370-2372
5.Systems-Based Interactome Analysis for Hematopoiesis Effect of Angelicae sinensis Radix: Regulated Network of Cell Proliferation towards Hemopoiesis.
Guang ZHENG ; He ZHANG ; Yun YANG ; Ying-Li SUN ; Yan-Jing ZHANG ; Ju-Ping CHEN ; Ting HAO ; Cheng LU ; Hong-Tao GUO ; Ge ZHANG ; Dan-Ping FAN ; Xiao-Juan HE ; Ai-Ping LU
Chinese journal of integrative medicine 2019;25(12):939-947
OBJECTIVE:
To explore the molecular-level mechanism on the hematopoiesis effect of Angelicae sinensis Radix (ASR) with systems-based interactome analysis.
METHODS:
This systems-based interactome analysis was designed to enforce the workflow of "ASR (herb)→compound→target protein→internal protein actions→ending regulated protein for hematopoiesis". This workflow was deployed with restrictions on regulated proteins expresses in bone marrow and anemia disease and futher validated with experiments.
RESULTS:
The hematopoiesis mechanism of ASR might be accomplished through regulating pathways of cell proliferation towards hemopoiesis with cross-talking agents of spleen tyrosine kinase (SYK), Janus kinase 2 (JAK2), and interleukin-2-inducible T-cell kinase (ITK). The hematopoietic function of ASR was also validated by colony-forming assay performed on mice bone marrow cells. As a result, SYK, JAK2 and ITK were activated.
CONCLUSION
This study provides a new approach to systematically study and predict the therapeutic mechanism for ASR based on interactome analysis towards biological process with experimental validations.
6.Study on chemical constituents from fruiting bodies of Ganoderma australe.
Ya-Zhe GE ; Qing-Yun MA ; Fan-Dong KONG ; Qing-Yi XIE ; Chang-Liang AN ; Zhi-Fang YU ; You-Xing ZHAO
China Journal of Chinese Materia Medica 2019;44(3):489-494
Chemical constituents were isolated from the fruiting bodies of Ganoderma australe by various column chromatographic techniques and HPLC method, and their chemical structures were identified through the combined analysis of physicochemical properties and spectral data. Meanwhile, their α-glucosidase inhibitory activity and anti-oxidative ability were evaluated. Seven compounds were isolated from G. australe and were identified as 6-methoxyl-cyclo-(Phe-Ile)(1), applanoxidic acid A methyl ester(2), ergosta-7,22 E-dien-3β-ol(3), cinnamic acid(4), 5α,8α-epidioxy-(20S,22E,24R)-ergosta-6,22-diene-3β-ol(5), 1-(3, 4-dihydroxyphenyl) ethanone(6), salicylic acid(7) and benzoic acid(8). Among the compounds, compound 1 was a new cyclic dipeptide. Compound 2 was a new lanosta natural product, and compounds 4, 6, 7 and 8 were obtained from G. australe for the first time. Moreover, compounds 4 and 8 exhibited α-glucosidase inhibitory activity with inhibition rates of 36.8% and 34.7%, and compounds 4, 7 and 8 had a certain activity in DPPH free radical scavenging activity with IC_(50) values of 0.168, 0.458 and 0.170 g·L~(-1), respectively. The DPPH radical scavenging rate of compound 1 was 41.1%.
Free Radical Scavengers
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isolation & purification
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Fruiting Bodies, Fungal
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chemistry
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Ganoderma
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chemistry
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Glycoside Hydrolase Inhibitors
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isolation & purification
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Molecular Structure
7.Research progress of influencing factors of perioperative delirium in patients receiving lung transplantation and its nursing care
Lei CAO ; Shufang ZHOU ; Xuefen ZHU ; Wenhua GE ; Li FAN ; Yun WANG ; Jingyu CHEN
Chinese Journal of Modern Nursing 2019;25(14):1838-1841
Delirium is a common complication during perioperative period of lung transplantation, which affects postoperative recovery and survival. This article reviews the general situation of delirium during perioperative period of lung transplantation and the risk factors of perioperative delirium associated with lung transplantation, and proposes comprehensive nursing intervention measures to prevent delirium, in order to provide a reference for the nursing of perioperative delirium in lung transplantation patients.
8.The protective effects of cordycepin on MPTP-induced dopaminergic neuron damage in mice and its mechanism
Yi-Yun FAN ; Pei-Chen TANG ; Xin-Xia GU ; Xin ZHANG ; Ying SUN ; Bo-Cheng YU ; Xiao-Yan ZHANG ; Xiao-Qun GE
Chinese Pharmacological Bulletin 2018;34(6):797-803
Aim To observe the protective effects of cordycepin ( Cor) on dopaminergic neurons in 1-meth-yl-4-phenyl-1 , 2 , 3 , 6-tetrahydropyridine ( MPTP )-in-duced mouse model of Parkinson's disease ( PD) and to explore its mechanism. Methods C57BL/6 mice were administered with MPTP to establish the PD mod-el. Mice in Cor groups were pretreated with Cor (2.5,5.0 and 10.0 mg·kg-1 ) by intragastric administra-tion, respectively. The motor functions of the mice were observed in the open-field test, rotarod test and pole test. The content of DA, the numbers of TH-im-munoreactive cells and apoptotic cells were measured respectively by HPLC-ECD, immunohistochemistry staining and TUNEL staining. The expression of apop-tosis related proteins and MAPK signaling pathway-re-lated proteins ( p38 , p-p38 , ERK1/2 , p-ERK1/2 JNK1/2 and p-JNK1/2 ) were determined by Western blot. Results Cor could significantly improve the mo-tor dysfunction in PD mice. The contents of DA, DOPAC and HVA in the striatum remarkably increased after administration of Cor in MPTP-induced mice. Mo-reover, Cor could obviously reduce both the loss of TH-immunoreactive neurons and the numbers of TUNEL-positive cells in substantia nigra pars compacta ( SNpc) of PD mice. The protein expressions of Bax and cleaved caspase-3 were markedly down-regulated,whereas those of Bcl-2 and the ration of Bcl-2/Bax were significantly up-regulated by Cor pre-treatment followed by MPTP treatment. Furthermore, the protein expressions of p-p38 , p-ERK1/2 and p-JNK1/2 signif-icantly decreased in substantia nigra in Cor groups. Conclusions The results suggest that Cor can protect DA neurons against MPTP-induced injury by inhibiting apoptosis, which may be closely relevant to the inhibi-tion of MAPK signaling pathways.
9. Comparative study on genotype distribution of HPV infection in the tissues of cervical squamous cell carcinoma and cervical adenocarcinoma
Cai-ge SHI ; Yun GU ; Jian-xiang GENG ; Xin GU ; Xue-mei FAN ; Xiao-lan XU ; Yu WANG ; Jing MEI ; Xue ZHAO
Journal of Medical Postgraduates 2018;31(8):840-843
Objective There are few large sample data reports of comparative study on genotype distribution of human papillomavirus (HPV) infection in the tissues of cervical squamous cell carcinoma and cervical adenocarcinoma in China. This study aimed to investigate the clinical value of genotype distribution of HPV infection in the tissues of cervical squamous cell carcinoma and cervical adenocarcinoma in regional (mainly in Jiangsu Province) patients.Methods We collected 1044 paraffin tissue specimens of female cervical squamous cell carcinoma (826 cases) and cervical adenocarcinoma (218 cases) in 29 hospitals from November 1978 to December 2017. HPV DNA was extracted from the tissues and through the combination of gene-chip and polymerase chain reaction technology, 23 genotypes of HPV were detected in all the tissues of cervical squamous cell carcinoma and cervical adenocarcinoma, and comparative study was conducted on the genotype distribution of HPV infection.Results Among 1044 cases of cervical squamous cell carcinoma and cervical adenocarcinoma, 901 were found with HPV and the detection rate was 86.30%. The detection rate of cervical squamous cell carcinoma was 91.53% (756/826), among which 16,18,58,33,52,31 types were the most common and the detection rate of 16 type was significantly higher than that of 18 types (56.84% vs 9.93%, P<0.05). The detection rate of cervical adenocarcinoma was 66.51% (145/218), among which 16,18,31,33,52,58 types were the most common, and the detection rates of 16 type and 18 type was of no significant (35.29% vs 32.35%, P>0.05).Conclusion The HPV detection rates are different in the regional female cervical squamous cell carcinoma and cervical adenocarcinoma tissues. 16,18,31,33,52 and 58 types are the most common genotypes in cervical squamous cell carcinoma and cervical adenocarcinoma. The detection rate of 16 type is overly higher than that of 18 type in cervical squamous cell carcinoma, while the detection rates of 16 type and 18 type in cervical adenocarcinoma are very close.
10.Hemostatic clips to facilitate intubation during ERCP with ampulla around duodenal diverticulum
Jian-Wei QIU ; Jun-Bo QIAN ; Tian-Min CHEN ; Yun-Song ZHU ; Zhen-Ming GE ; Jin-He FAN ; Cheng-Jin ZHAO
China Journal of Endoscopy 2018;24(5):12-16
Objective To investigate the effectiveness of hemostatic-clip-assisted method during ERCP with ampulla around duodenal diverticulum. Methods 25 patients with ampulla around duodenal diverticulum encountered cannulation difficulty, 11 cases underwent with clip-assisted method, 14 cases with ordinary ways. Number of successful cases, cannulation time, post-operation complication were analyzed. Results All the 11 cases succeeded in clip group. 12 patients succeeded in none-clip group. Cannulation time between the two groups were discrepant. There was no difference in number of successful cases and post-operation complication rate. Conclusion Successful application of hemostatic clip help to expose and facilitate cannulation of an ampulla around a duodenal diverticulum.

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