1.Gene frequencies and polymorphism of the MNS blood group system in the Han population of voluntary blood donors in Suzhou
Zihao XU ; Xiaoyan FU ; Zhen LIU ; Jia JIANG ; Yiming JIN
Chinese Journal of Blood Transfusion 2025;38(3):397-401
[Objective] To investigate the antigen and gene frequency distribution of the MNS blood group system in the Han population of voluntary blood donors in Suzhou, and to explore the polymorphism of rare MNS blood group genes, in order to improve the construction of the local rare blood group database. [Methods] A total of 8 034 whole blood samples were randomly collected from Han blood donors at our station from October 2023 to June 2024. The MNS blood group phenotypes were identified using serological methods. Gene frequencies were analyzed and compared with those of ethnic populations in other regions. Rare MNS phenotype samples were subjected to gene sequencing. [Results] The distribution of MNS blood group system phenotypes within the population was as follows: the MM, NN, and MN phenotypes accounted for 23.00%, 27.12%, and 49.88% respectively; the SS, ss, and Ss phenotypes accounted for 0.30%, 90.99%, and 8.70% respectively. The gene frequencies of M, N, S, and s were 0.4794, 0.5206, 0.0465, and 0.9534 respectively. Chi-squared tests confirmed adherence to Hardy-Weinberg equilibrium with P-values of 0.997 and 0.349, showing statistical significance compared to some other regional ethnic populations (P<0.05). Additionally, one rare serological phenotype, S-s-, with a frequency of 0.01%, was identified. [Conclusion] The MNS blood group system in the Han population of voluntary blood donors in Suzhou exhibits polymorphism and regional distribution characteristics. Gene frequencies differ from those observed in other regions of China. It is essential to enhance the establishment of a rare blood type database in Suzhou to provide data support for precise clinical transfusion.
2.Clinical Characteristics and Prognosis of Myelodysplastic Syndromes Patients with RUNX1 Gene Mutation
Yi CHEN ; Yue-Ru JI ; Jing-Yi ZHANG ; Wei-Wei QIN ; Cang-Chun LIU ; Li LIU ; Xue-Qian YAN
Journal of Experimental Hematology 2024;32(4):1173-1180
Objective:To investigate the clinical characteristics and survival analysis of myelodysplastic syndromes(MDS)with RUNX1 gene mutation.Methods:Clinical data of 177 newly diagnosed MDS patients admitted to the Department of Hematology,the Second Affiliated Hospital of Air Force Military Medical University from October 1,2015 to October 31,2022 were retrospectively analyzed.Gene mutation detection was performed by second-generation sequencing technology,and clinical characteristics and prognosis of patients with RUNX1 gene mutation were analyzed.Results:A total of 30 cases(16.95%)of RUNX1 gene mutations were detected,including 15 missense mutations(50.0%),9 frameshift deletion mutations(30.0%),4 splice site mutations(13.3%),1 insertion mutation(3.3%),and 1 nonsense mutation(3.3%).Patients with RUNX1 mutations had a median age of 68.5 years at diagnosis(range:62.25-78.50 years old).There were no significantly differences between RUNX1 mutations and wild type patients in age distribution,gender,peripheral blood white blood cell count,hemoglobin level,bone marrow and peripheral blood blasts ratio,IPSS-R cytogenetics,IPSS-R stage,etc.(P>0.05).However,there were statistically significant differences in platelet count and whether complicated karyotype.Compared with patients without RUNX1 gene mutation,patients with RUNX1 gene mutation had lower platelet count(P=0.018),and were less likely to have complicated karyotype at initial diagnosis(P=0.01).Cox proportional hazards model analysis showed that when other co variates remained unchanged,the higher the platelet count,the better the survival of patients(HR=0.995,95%CI:0.990-0.999,P=0.036);In the IPSS-M prognostic stratification,keeping other covariates unchanged,the risk of progression or death of myelodysplastic syndrome was significantly lower in the medium to high-risk and low-risk groups compared with the high-risk group(HR=0.149,95%CI:0.031-0.721,P=0.018;HR=0.026,95%CI:0.003-0.234,P=0.001).Survival analysis showed that MDS patients with RUNX1 gene mutation had worse overall survival time(P<0.001).Patients with RUNX1 mutation had worse OS than non-mutation patients in the early WHO group.RUNX1 mutation and IPSS-M risk stratification mean OS and mean LFS were worse in low-risk patients than in non-mutated patients.Conclusion:RUNX1 gene mutation is an adverse prognostic factor in MDS patients,especially in the IPSS-M prognosis stratification group of low-risk,medium-low risk,medium-high risk and WHO classification of early patients.
3.Clinical application of a simple traction device to colonic endoscopic submucosal dissection (with video)
Wenping WANG ; Xia LENG ; Hui CANG ; Huamin LIU ; Pengfei LIU ; Yuejun SUN ; Fangjun WANG
Chinese Journal of Digestive Endoscopy 2024;41(5):405-407
To evaluate the application value of metal clip combined with suture and rubber coil as a simple traction device in endoscopic submucosal dissection (ESD) for intestinal mucosal lesions, a total of 56 patients with early colonic cancer and precancerous lesions who received ESD in Jiangyin People's Hospital from January 2021 to July 2022 were randomly divided into the control group ( n=28, conventional ESD) and the traction group ( n= 28, suture and rubber coil as a simple traction device). The total time of ESD, mucosal dissection time, number of submucosal injections, complete resection rate and complications were compared between the two groups. The operation time of the traction group was shorter than that of the control group (74.64±33.25 min VS 117.18±35.75 min, t=4.61, P<0.001). The desection time of mucosa in the traction group was shorter than that in the control group (51.61±24.87 min VS 99.11±32.73 min, t=6.11, P<0.001). The number of submucosal injection in the traction group was less than that of the control group with significant difference (1.68±1.16 VS 4.96±1.41, t=9.57, P<0.001). There was no significant differences in operation area, complete resection rate or complication between the two groups ( P>0.05). The traction assistance technology of metal clip combined with suture and rubber coil can reduce the technical difficulty of colonic ESD and shorten the operation time.
4.Analysis of Human Brain Bank samples from Hebei Medical University
Juan DU ; Shi-Xiong MI ; Yu-Chuan JIN ; Qian YANG ; Min MA ; Xue-Ru ZHAO ; Feng-Cang LIU ; Chang-Yi ZHAO ; Zhan-Chi ZHANG ; Ping FAN ; Hui-Xian CUI
Acta Anatomica Sinica 2024;55(4):437-444
Objective To understand the current situation of human brain donation in Hebei Province by analyzing the basic information of Human Brain Bank samples of Hebei Medical University in order to provide basic data support for subsequent scientific research.Methods The samples collected from the Human Brain Bank of Hebei Medical University were analyzed(from December 2019 to February 2024),including gender,age,cause of death,as well as quality control data such as postmortem delay time,pH value of cerebrospinal fluid and and RNA integrity number and result of neuropathological diagnosis.Results Until February 2024,30 human brain samples were collected and stored in the Human Brain Bank of Hebei Medical University,with a male to female ratio of 9∶1.Donors over 70 years old accounted for 53%.Cardiovascular and cerebrovascular diseases(36.67%)and nervous system diseases(23.33%)accounted for a high proportion of the death causes.The location of brain tissue donors in Shijiazhuang accounted for 90%donations,and the others were from outside the city.The postmortem delay time was relatively short,90%within 12 hours and 10%more than 12 hours.69.23%of the brain samples had RNA integrity values greater than 6.Cerebrospinal fluid pH values ranged from 5.8 to 7.5,with an average value of 6.60±0.45.Brain weights ranged from 906-1496 g,with an average value of(1210.78±197.84)g.Three apolipoprotein E(APOE)alleles were detected including five genotypes(ε2/ε3,ε2/ε4,ε3/ε3,ε3/ε4,ε4/ε4).Eleven staining methods related to neuropathological diagnosis had been established and used.A total of 12 cases were diagnosed as neurodegenerative diseases(including Alzheimer's disease,Parkinson's disease,multiple system atrophy,corticobasal degeneration and progressive supranuclear palsy,etc.),accounting for 40%donated brains.The comorbidity rate of samples over 80 years old was 100%.Conclusion The summary and analyses of the data of brain donors in the Human Brain Bank of Hebei Medical University can reflect the current situation of the construction and operation of the brain bank in Hebei Province,and it can also be more targeted to understand and identify potential donors.Our information can provide reference for the construction of brain bank and provides more reliable materials and data support for scientific research.
5.Clinical Dominant Diseases in Traditional Chinese Medicine: A Series of Youth Salon Seminars for Clinical Dominant Diseases Held by China Association of Chinese Medicine
Zhanfeng YAN ; Lingbo KONG ; Jingshang WANG ; Baoli LIU ; Yuan XU ; Yingke LIU ; Ping WANG ; Cang ZHANG ; Weijing LIU ; Dawei ZOU ; Guowang YANG ; Demin LI ; Jiang CHEN ; Mei MO ; Yong ZHU ; Bin WANG ; Xiaoxiao ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(1):202-208
The discussion and research on the clinical dominant diseases of traditional Chinese medicine (TCM) have attracted increasing attention. Through approaches including modern technology, evidence-based medical methods, and multi-disciplinary treatment, we should construct a sound TCM inheritance and innovation system, establish a collaborative innovation mechanism, and integrate major research projects, striving to make breakthroughs in TCM theory, methodology, standards, and regulation system, promoting the scientific and technological progress of TCM, and thereby improving its curative effect. The China Association of Chinese Medicine (CACM) carried out a series of youth salon seminars for clinical dominant diseases in TCM, discussing and sorting out the advantages of the dominant diseases in clinical diagnosis and treatment of TCM and integrated traditional Chinese and western medicine in specific diseases or fields. Authoritative experts in the industry were invited to give comment and guidance to form a report. Centering on clinical research of dominant diseases, thematic research was carried out in the aspects of practice, human experience-based evidence, and transformation path. Through the systematic study of the dominant diseases, the advantages of TCM in different stages of disease treatment were excavated to constantly improve the prevention and treatment ability of TCM and carry forward the advancement of TCM theory and practice. At the same time, the communication and understanding between traditional Chinese and western medicine were improved, laying the foundation for the further formation of industry guidelines or consensus and comprehensive promotion. These seminars are expected to provide references for the development of policy planning, clinical diagnosis and treatment, health economy, and social services in TCM and lay the foundation for the formation of a new modern diagnosis and treatment system with Chinese characteristics.
6.Surgical analysis of anterior cervical approache in the treatment of brachial plexus schwannoma of thoracic outlet
Yipeng DONG ; Cang LIU ; Jing ZHANG ; Xianghua ZHANG
International Journal of Surgery 2023;50(11):752-756
Objective:To investigate the surgical treatment strategies of brachial plexus schwannomas protruding from the foraminal area to the thoracic outlet through anterior cervical approach, and to evaluate the curative effect.Methods:The clinical data of 8 patients treated in Beijing Friendship Hospital Affiliated to Capital Medical University from July 2016 to December 2020 who underwent supraclavicular cervical "barb" incision for protruding into the thoracic outlet through anterior cervical approach were retrospectively collected, including 5 males and 3 females, aged (50.75±11.14) years old, ranging from 31-66 years old. And the key points of the operation, postoperative complications and postoperative follow-up were analyzed. Measurement data with normal distribution were represented as mean±standard deviation( ± s), count data were described as numbers. Results:The tumors in all 8 cases were totally resected.The amount of bleeding during operation was (35.00±14.14) mL. No surgical complications such injury of pleura, aspneumothorax and hemothorax, except 2 cases which developed local sensory disturbance that improved that after neurotrophic treatment and hormonotherapy. All 8 patients were followed up by outpatient or telephone for 1-5 years, and cervical MRI review showed no tumor recurrence in situ.Conclusions:The anterior cervical approach with "barb type" incision above the neck clavicle is effective in excision of schwannomas protruding into the thoracic outlet, with less intraoperative injury, less blood loss, fast postoperative recovery.
7.Analysis of lactate dehydrogenase gene polymorphisms and prediction of B cell epitopes in four human Plasmodium species
He-rong HUANG ; Ying DONG ; Yan DENG ; Yan-chun XU ; Meng-ni CHEN ; Yan LIU ; Cang-lin ZHANG
Chinese Journal of Schistosomiasis Control 2022;34(1):28-35
Objective To analyze the polymorphism of Plasmodium lactate dehydrogenase (pLDH) gene and predict B-cell epitopes in pLDH peptides in four species of human malaria parasites. Methods The blood samples and epidemiological characteristics were collected from malaria cases in Yunnan Province registered in the National Notifiable Disease Report System. The pLDH genes of four human Plasmodium species were amplified using nested PCR assay and sequenced. The polymorphisms of pLDH genes was analyzed using the software MEGA version 7.0.26 and DnaSP version 5.10, and the B-cell epitopes were predicted in pLDH peptides using the Immune Epitope Database (IEDB). Results The sequences of P. vivax LDH (PvLDH), P. falciparum LDH (PfLDH), P. ovale LDH (PoLDH) and P. malariae LDH (PmLDH) genes were obtained from 153, 29, 17 and 11 blood samples from patients with P. vivax, P. falciparum, P. ovale and P. malariae malaria, respectively, which included 15, 2, 4 and 2 haplotypes and had a nucleotide diversity (π) of 0.104. A high level of intra-species differentiation was seen in the PoLDH gene (π = 0.012), and the π values were all < 0.001 for PvLDH, PfLDH and PmLDH genes. Active regions of B-cell antigen were predicted in the pLDH peptide chain of four human malaria parasites, of 4 to 5 in each chain, and the activity score was approximately 0.430. Among these peptide chains, the “86-PGKSDKEWNRD-96” short-peptide was a B-cell epitope shared by all four species of human malaria parasites, and the “266-GQYGHS (T)-271” short-peptide was present in PvLDH and PoLDH peptide chains, while “212-EEVEGIFDR-220” was only found in the PvLDH peptide chain, and “208-LISDAE-213” was only seen in the PfLDH peptide chain. Conclusions The PoLDH gene polymorphism may be derived from the weak negative purification selection, while PvLDH, PfLDH and PmLDH genes may maintain a relatively conservative state. There may be two B-cell epitopes “212-EEVEGIFDR-220” and “208-LISDAE-213” in the proximal region of the C terminal in the pLDH peptide chain, which is feasible to differentiate between P. vivax and P. falciparum infections.
8.Application of augmented reality and mixed reality navigation technology in laparoscopic limited right hepatectomy.
Wen ZHU ; Xiao Jun ZENG ; Nan XIANG ; Ning ZENG ; Zhi Hao LIU ; Xue Quan FANG ; Fu Cang JIA ; Jian YANG ; Yun Yi LIU ; Chi Hua FANG
Chinese Journal of Surgery 2022;60(3):249-256
Objective: To investigate the application effect of augmented reality and mixed reality navigation technology in three-dimensional(3D) laparoscopic narrow right hepatectomy(LRH). Methods: A retrospective analysis was performed on the clinical data of 5 patients with hepatic malignancy admitted to the First Department of Hepatobiliary Surgery,Zhujiang Hospital,Southern Medical University from September 2020 to June 2021,all of whom were males,aged from 42 to 74 years.Preoperative evaluation was performed using the self-developed 3D abdominal medical image visualization system; if all the 5 patients were to receive right hemihepatectomy,the remnant liver volume would be insufficient,so LRH were planned.During the operation,the independently developed 3D laparoscopic augmented reality and mixed reality surgical navigation system was used to perform real-time multi-modal image fusion and interaction between the preoperative 3D model and 3D laparoscopic scene.Meanwhile,intraoperative ultrasound assisted indocyanine green fluorescence was used to determine the surgical path.In this way,the LRH under the guidance of augmented reality and mixed reality navigation was completed.The predicted liver resection volume was evaluated before surgery,actual resected liver volume,surgical indicators and postoperative complications were analyzed. Results: All the 5 patients completed LRH under the guidance of augmented reality and mixed reality navigation technology,with no conversion to laparotomy.The median operative time was 300 minutes(range:270 to 360 minutes),no intraoperative blood transfusion was performed,and the median postoperative hospital stay was 8 days(range:7 to 9 days).There were no perioperative deaths,or postoperative complications such as liver failure,bleeding,or biliary fistula. Conclusion: For patients who need to undergo LRH,the use of augmented and mixed reality navigation technology can safely and effectively guide the implementation of surgery,retain more functional liver volume,improve surgical safety,and reduce postoperative complications.
Adult
;
Aged
;
Augmented Reality
;
Hepatectomy/methods*
;
Humans
;
Imaging, Three-Dimensional
;
Laparoscopy/methods*
;
Liver Neoplasms/surgery*
;
Male
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Middle Aged
;
Retrospective Studies
;
Technology
9.Gene Mutation and Clinical Characteristics of Patients with Acute Leukemia.
Jie YANG ; Yong-Bin YANG ; Rui-Cang WANG ; Jing-Yue LIU ; Yan LI ; Jun YUAN ; Jie LI ; Xiao-Xia ZHANG ; Xiao-Han GAO ; Hong-Ling HAO
Journal of Experimental Hematology 2022;30(6):1693-1699
OBJECTIVE:
To investigate the characteristics of gene mutation, clinical characteristics and significance in acute leukemia (AL) patients.
METHODS:
The clinical data of 102 AL patients in Hebei General Hospital from September 2016 to September 2020 were collected and analyzed retrospectively, including the characteristics of gene mutation, age, peripheral blood cells, bone marrow blasts, leukemia subtypes and myeloperoxidase (MPO).
RESULTS:
The total gene mutation rate was 87.25% (89/102) in all 102 patients. A total of 275 gene mutations were detected, with an average of 2.70 gene mutations per patient. The most frequent mutations of 102 patients were as follows: CEBPA (6.91%), NPM1 and ASXL1(6.18%), TET2 (5.82%), DNMT3A (5.45%), IDH2 and FLT3-ITD (5.09%). Gene mutations often occurred simultaneously. CEBPA mutation occurred in 10 cases of M2 subtype, while TET2 mutation occurred in 9 cases of M2 subtype. Among the most common gene mutations in MPO low expression group, mutation rates of NPM1, DNMT3A, IDH2, SF related gene mutation and RUNX1 were significantly different than those in MPO high expression group (all P<0.05). Univariate analysis showed that age, NPM1, DNMT3A and FLT3-ITD had significant effects on leukocyte level. Logistic regression analysis showed that patients with positive NPM1 mutations may had higher leukocyte levels (p=0.038), and those with positive DNMT3A mutations may had higher platelet levels (p=0.042).
CONCLUSION
The incidence of gene mutation in patients with AL is high, and it often occurs simultaneously. CEBPA and TET2 gene mutations are more common in M2 subtype. In patients with MPO low expression, the most common gene mutations are NPM1, DNMT3A and IDH2. AL patients with NPM1 gene mutation had higher white blood cell levels, while with DNMT3A gene mutation had higher platelet levels.
Humans
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Retrospective Studies
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Leukemia
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Mutation
10.Molecular Mechanism of Ursolic Acid in the Treatment of Osteoporosis Based on Network Pharmacology and Molecular Docking
Jun ZHAO ; Jialin SUN ; Hongling LIU ; Guangwei LIU ; Xiangpeng LI ; Huaiqin CANG ; Yu LIANG ; Chuanzhou ZHANG ; Bing HAN ; Zhongguo SUI
China Pharmacy 2021;32(17):2066-2073
OBJECTIVE:To explo re the potential molecular mechanism of ursolic acid in the treatment of osteoporosis (OP). METHODS:TCMSP,PubMed database and UniProt database were used to screen potential targets of monomer compound ursolic acid. OP related target genes were searched with GeneCards database. The common target genes of component-disease were obtained by Venny 2.1 online mapping tool. The protein-protein interaction (PPI)network of component-disease common target genes was constructed by using STRING database ,and topological analysis was carried out ;the core target genes ,whose degree value was greater than the average degree value ,were screened. GO functional annotation and KEGG pathway enrichment analysis of component-disease common target genes were carried out by DAVID database. AutoDock Vina 1.1.2 software was used for molecular docking ,using protein encoded by the core target gene as receptor and ursolic acid as ligand. RESULTS :A total of 55 ursolic acid related target genes and 4 273 OP related target genes were excavated ,with a total of 44 common target genes. PPI network with above common target genes included 44 nodes and 513 edges,with an average node degree of 23.3. There were 24 core target genes ,including VEGFA,TP53,IL6,CASP3. There were 340 GO functional items were enriched (corrected P< 0.05),including 263 biological processes (negative regulation of apoptosis ,etc.),25 molecular functions (protein binding ,etc.) and 52 cell components (cytosol,etc.). There were 90 KEGG signaling pathways (corrected P<0.05),such as tumor pathway , hepatitis B pathway ,TNF signaling pathway ,viral carcinogenesis and phosphatidylinositol 3 kinase/protein kinase B (PI3K-Akt) signaling pathway. The binding energy between ursolic acid and 6 proteins encoded by core target genes such as TP53 was lower than -5 kcal/mol,which had strong binding activity. CONCLUSIONS :The therapeutic effect of ursolic acid on OP may be achieved by regulating VEGFA,TP53,IL6,CASP3,JUN and other core target genes and acting on multiple key pathways such as cancer pathway , hepatitis B and TNF signaling

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