1.A Family with Congenital Dysfibrinogenemia and Blood Transfusion.
Xiang-Cheng LIAO ; Shan-Shan ZHANG ; Zi-Ji YANG ; Chun-Li ZHU ; Hui-Ni HUANG ; Rui-Xian LUO ; Si-Na LI ; Hui-Qiong XIE ; Hai-Lan LI ; Zhu-Ning MO
Journal of Experimental Hematology 2023;31(5):1469-1474
OBJECTIVE:
To investigate a family with congenital dysfibrinogenemia, and analyze the risk of hemorrhage and thrombosis and blood transfusion strategies.
METHODS:
Prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time (TT) of the proband and her family members were detected by automatic coagulometer, fibrinogen (Fg) activity and antigen were detected by Clauss method and PT algorithm respectively. Meanwhile, thromboelastometry was analyzed for proband and her family members. Then, peripheral blood samples of the proband and her family members were collected, and all exons of FGA, FGB and FGG and their flanks were amplified by PCR and sequenced to search for gene mutations.
RESULTS:
The proband had normal APTT and PT, slightly prolonged TT, reduced level of Fg activity (Clauss method). The Fg of the proband's aunt, son and daughter all decreased to varying degrees. The results of thromboelastogram indicated that Fg function of the proband and her family members (except her son) was basically normal. Gene analysis showed that there were 6233 G/A (p.AαArg35His) heterozygous mutations in exon 2 of FGA gene in the proband, her children and aunt. In addition, 2 polymorphic loci were found in the family, they were FGA gene g.9308A/G (p.AαThr331Ala) and FGB gene g.12628G/A (p.BβArg478Iys) polymorphism, respectively. The proband was injected with 10 units of cryoprecipitate 2 hours before delivery to prevent bleeding, and no obvious bleeding occurred during and after delivery.
CONCLUSION
Heterozygous mutation of 6233G/A (p.AαArg35His) of FGA gene is the biogenetic basis of the disease in this family with congenital dysfibrinogenemia.
Humans
;
Child
;
Female
;
Fibrinogen/genetics*
;
Pedigree
;
Afibrinogenemia/genetics*
;
Mutation
;
Blood Transfusion
2.Genetic Subtypes and Pretreatment Drug Resistance in the Newly Reported Human Immunodeficiency Virus-Infected Men Aged≥50 Years Old in Guangxi.
Ning-Ye FANG ; Wen-Cui WEI ; Jian-Jun LI ; Ping CEN ; Xian-Xiang FENG ; Dong YANG ; Kai-Ling TANG ; Shu-Jia LIANG ; Yu-Lan SHAO ; Hua-Xiang LU ; He JIANG ; Qin MENG ; Shuai-Feng LIU ; Qiu-Ying ZHU ; Huan-Huan CHEN ; Guang-Hua LAN ; Shi-Xiong YANG ; Li-Fang ZHOU ; Jing-Lin MO ; Xian-Min GE
Acta Academiae Medicinae Sinicae 2023;45(3):399-404
Objective To analyze the genetic subtypes of human immunodeficiency virus (HIV) and the prevalence of pretreatment drug resistance in the newly reported HIV-infected men in Guangxi. Methods The stratified random sampling method was employed to select the newly reported HIV-infected men aged≥50 years old in 14 cities of Guangxi from January to June in 2020.The pol gene of HIV-1 was amplified by nested reverse transcription polymerase chain reaction and then sequenced.The mutation sites associated with drug resistance and the degree of drug resistance were then analyzed. Results A total of 615 HIV-infected men were included in the study.The genetic subtypes of CRF01_AE,CRF07_BC,and CRF08_BC accounted for 57.4% (353/615),17.1% (105/615),and 22.4% (138/615),respectively.The mutations associated with the resistance to nucleoside reverse transcriptase inhibitors (NRTI),non-nucleoside reverse transcriptase inhibitors (NNRTI),and protease inhibitors occurred in 8 (1.3%),18 (2.9%),and 0 patients,respectively.M184V (0.7%) and K103N (1.8%) were the mutations with the highest occurrence rates for the resistance to NRTIs and NNRTIs,respectively.Twenty-two (3.6%) patients were resistant to at least one type of inhibitors.Specifically,4 (0.7%),14 (2.3%),4 (0.7%),and 0 patients were resistant to NRTIs,NNRTIs,both NRTIs and NNRTIs,and protease inhibitors,respectively.The pretreatment resistance to NNRTIs had much higher frequency than that to NRTIs (2.9% vs.1.3%;χ2=3.929,P=0.047).The prevalence of pretreatment resistance to lamivudine,zidovudine,tenofovir,abacavir,rilpivirine,efavirenz,nevirapine,and lopinavir/ritonavir was 0.8%, 0.3%, 0.7%, 1.0%, 1.3%, 2.8%, 2.9%, and 0, respectively. Conclusions CRF01_AE,CRF07_BC,and CRF08_BC are the three major strains of HIV-infected men≥50 years old newly reported in Guangxi,2020,and the pretreatment drug resistance demonstrates low prevalence.
Male
;
Humans
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Middle Aged
;
Reverse Transcriptase Inhibitors/therapeutic use*
;
HIV Infections/drug therapy*
;
Drug Resistance, Viral/genetics*
;
China/epidemiology*
;
Mutation
;
HIV-1/genetics*
;
Protease Inhibitors/therapeutic use*
;
Genotype
3.Gene Sequencing Analyses of 10 ABO Ambiguous Blood Group Samples.
Hui Ni HUANG ; Zhu Ning MO ; Xiang Cheng LIAO ; Zi Ji YANG ; Yue Rong WEI ; Chun Li ZHU ; Hai Lan LI
Journal of Experimental Hematology 2022;30(4):1193-1197
OBJECTIVE:
Through analysis of ABO blood group gene typing technology, to assist in the identification of difficult clinical serological specimens.
METHODS:
A total of 10 forwardreverse typing ambiguous samples were collected from January 2021 to August 2021 in our hospital.ABO genotypes were analysed by gene sequencing.
RESULTS:
The genotypes of 10 ABO ambiguous blood group samples were A102/BW11, A102/BW12, O02/O02, A102/B303, A102/B101, BW11/O02, B101/O04, BW11/O01, BW11/O01, A101/O02, respectively. The genotype results of 6 cases was consistent with the serological phenotype, and the serological phenotype of 4 cases were different from the geno sequencing.
CONCLUSION
ABO blood groups genotyping technology combined with serological typing can be used for accurate typing of ambiguous blood group, and better ensure the safety of blood transfusion.
ABO Blood-Group System/genetics*
;
Alleles
;
Blood Grouping and Crossmatching
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Exons
;
Genotype
;
Phenotype
4.Analysis of prescription regularity of traditional Chinese medicine for colorectal cancer based on data mining.
Xiang-Jun QI ; Xin-Rong CHEN ; Jia-Hao MO ; Pei-Xin LI ; Meng-Yi CAI ; Wan-Ning LAN ; Han-Rui CHEN ; Zhuang-Zhong CHEN ; Guo-Ming CHEN ; Li-Zhu LIN
China Journal of Chinese Materia Medica 2021;46(15):4016-4022
The tumor prescriptions contained in Dictionary of Tumor Formulas, Compendium of Good Tumor Formulas, Chinese Pharmacopoeia, Ministry of Health Drug Standards for Chinese Medicine Formulas and National Compilation of Standards for Proprietary Chinese Medicines were selected and organized to construct a database for tumor prescriptions, and the data mining techniques were applied to investigate the prescription regularity of colorectal cancer prescriptions. The formula data were extracted after screening in strict accordance with the inclusion and exclusion criteria, and were then analyzed with Microsoft Excel 2010 for frequency statistics, Apriori block provided by SPSS Clementine 12.0 software for correlation rule analysis, and arules and arulesViz packages in R 4.0.2 software for correlation rule visualization. In addition, SPSS 18.0 software was used for cluster analysis and factor analysis, in which cluster analysis was performed by Ochiai algorithm with bicategorical variables in systematic clustering method and factor analysis was performed mainly with principal component analysis. A total of 285 prescriptions were included in the statistical analysis, and the frequency statistics showed that 43 herbs had been used more than 16 times. The association rules analysis showed that 26 high-frequency me-dicine pair rules were obtained, and the association rules for those dispelling evil spirits, strengthening the body, resolving stasis, dispelling dampness, etc. were visualized. In the cluster analysis, we generated a dendrogram from which 7 groups of traditional Chinese medicines with homogeneity were extracted. 10 common factors were obtained in the factor analysis. The types of herbal medicines involved in the colorectal cancer prescription included anti-cancer antidotes, strengthening and tonifying medicines, blood-regulating medicines, and expectorant medicines, corresponding to the treatment for eliminating evil spirits, strengthening, resolving stasis, and expectorating dampness. The prescriptions for anti-cancer detoxification were normally based on the pairs composed of Scutellaria barbata-Hedyotis diffusa and Sophora flavescens, Sargentodoxa cuneata, S. barbata, often combined with stasis relieving drug and dampness eliminating drug, reflecting the characteristics of treatment for both toxicity and stasis, dampness and toxicity simultaneously. The prescriptions for strengthening the righteousness and tonifying the deficiency were composed of Astragalus membranaceus and Atractylodes macrocephala mainly, exerting the effect of benefiting Qi, strengthening the spleen and drying dampness, tonifying kidney and essence, tonifying blood and invigorating blood. Meanwhile, anti-cancer detoxification medicines shall be reduced as much as possible. The compatibility of the medicines for the intestinal tract reflected the principle of using the right medicine for the right condition and eliminating evil spirits or strengthening the body, as appropriate.
Colorectal Neoplasms/drug therapy*
;
Data Mining
;
Drug Prescriptions
;
Drugs, Chinese Herbal/therapeutic use*
;
Humans
;
Medicine, Chinese Traditional
5.Meta-analysis on Clinical Effect and Safety of Tanreqing Injection in Treatment of Elderly Chronic Bronchitis
Jia-hao MO ; Rui-lan HUANG ; Qian WU ; Ling-li GUO ; Xiang-jun QI ; Jin-sheng LI ; Fu-ping XU
Chinese Journal of Experimental Traditional Medical Formulae 2021;27(3):184-190
Objective:To systematically evaluate the clinical efficacy of Tanreqing injection in the treatment of elderly chronic bronchitis. Method:CBM,CNKI,WanFang Data,VIP,PubMed,The Cochrane Library,Embase and other databases were retrieved by computer to screen out randomized controlled trials of Tanreqing injection in the treatment of elderly chronic bronchitis. The retrieval time was from the establishment to December 2019. After two researchers independently screened out the literatures according to the inclusion and exclusion criteria,extracted data and evaluated the literature quality,made meta-analysis using RevMan 5.3 software,and performed Egger test by Stata 14.0 software to evaluate publication bias. In case of any publication bias,clipping and supplementation method was further used to evaluate the effect of bias on the results. Result:A total of 48 studies were included,including 4 356 patients with diabetic nephropathy. The results of Meta-analysis showed that compared with conventional antibiotic therapy,the group of combination with Tanreqing injection was better than the control group in effective rate and lowering serum c-reactive protein (CRP) level,with statistically significant differences. The results of the publication bias test showed that a developmental bias in the effective rate. Further analysis based on the non-parametric clipping and supplementation method showed stable results of meta-analysis and no impact from potential publication bias. The adverse reactions had no statistically significance. Conclusion:This study shows that Tanreqing injection has a significant effect in treating chronic bronchitis in the elderly,and can reduce the serum CRP level of the patients. Compared with the conventional therapy group,the incidence of adverse reactions is not significantly increased,and the results need further clinical tests.
6.Preliminary results of multicenter studies on ABO-incompatible kidney transplantation
Hongtao JIANG ; Tao LI ; Kun REN ; Xiaohua YU ; Yi WANG ; Shanbin ZHANG ; Desheng LI ; Huiling GAN ; Houqin LIU ; Liang XU ; Zhigang LUO ; Peigen GUI ; Xiangfang TAN ; Bingyi SHI ; Ming CAI ; Xiang LI ; Junnan XU ; Liang XU ; Tao LIN ; Xianding WANG ; Hongtao LIU ; Lexi ZHANG ; Jianyong WU ; Wenhua LEI ; Jiang QIU ; Guodong CHEN ; Jun LI ; Gang HUANG ; Chenglin WU ; Changxi WANG ; Lizhong CHEN ; Zheng CHEN ; Jiali FANG ; Xiaoming ZHANG ; Tongyi MEN ; Xianduo LI ; Chunbo MO ; Zhen WANG ; Xiaofeng SHI ; Guanghui PEI ; Jinpeng TU ; Xiaopeng HU ; Xiaodong ZHANG ; Ning LI ; Shaohua SHI ; Hua CHEN ; Zhenxing WANG ; Weiguo SUI ; Ying LI ; Qiang YAN ; Huaizhou CHEN ; Liusheng LAI ; Jinfeng LI ; Wenjun SHANG ; Guiwen FENG ; Gang CHEN ; Fanjun ZENG ; Lan ZHU ; Jun FANG ; Ruiming RONG ; Xuanchuan WANG ; Guisheng QI ; Qiang WANG ; Puxun TIAN ; Yang LI ; Xiaohui TIAN ; Heli XIANG ; Xiaoming PAN ; Xiaoming DING ; Wujun XUE ; Jiqiu WEN ; Xiaosong XU
Chinese Journal of Organ Transplantation 2020;41(5):259-264
Objective:To summarize the patient profiles and therapeutic efficacies of ABO-incompatible living-related kidney transplantations at 19 domestic transplant centers and provide rationales for clinical application of ABOi-KT.Methods:Clinical cases of ABO-incompatible/compatible kidney transplantation (ABOi-KT/ABOc-KT) from December 2006 to December 2009 were collected. Then, statistical analyses were conducted from the aspects of tissue matching, perioperative managements, complications and survival rates of renal allograft or recipients.Results:Clinical data of 342 ABOi-KT and 779 ABOc-KT indicated that (1) no inter-group differences existed in age, body mass index (BMI), donor-recipient relationship or waiting time of pre-operative dialysis; (2) ABO blood type: blood type O recipients had the longest waiting list and transplantations from blood type A to blood type O accounted for the largest proportion; (3) HLA matching: no statistical significance existed in mismatch rate or positive rate of PRA I/II between two types of surgery; (4) CD20 should be properly used on the basis of different phrases; (5) hemorrhage was a common complication during an early postoperative period and microthrombosis appeared later; (6) no difference existed in postoperative incidence of complications or survival rate of renal allograft and recipients at 1/3/5/10 years between ABOi-KT and ABOc-KT. The acute rejection rate and serum creatinine levels of ABOi-KT recipients were comparable to those of ABOc-KT recipients within 1 year.Conclusions:ABOi-KT is both safe and effective so that it may be applied at all transplant centers as needed.
7.Villous adenoma of the urinary tract: a clinicopathological study.
Wu YIN ; Xiang-lan MO ; Zong-hua WEN ; Xiang-zhen ZHOU ; Min-yan ZHOU ; Hai-ming WEI
Chinese Journal of Pathology 2013;42(7):438-441
OBJECTIVETo explore the clinicopathological features, immunophenotype, differential diagnosis, pathogenesis and prognosis of villous adenoma with poorly differentiated adenocarcinoma of the urinary tract.
METHODSClinical and pathologic findings of 3 cases of villous adenoma with poorly differentiated adenocarcinoma of the urinary tract were analyzed by gross examination, microscopic investigation and immunohistochemical staining. The related literatures were reviewed.
RESULTSAll of the three cases were middle-aged or elderly patients. Three cases all presented with hematuria and mucusuria. Endoscopic examination identified that case 1 had a polyp with broad attachment in the dome of bladder, case 2 had a solid mass in the ureter, and case 3 had a exophytic fungating tumor in the renal pelvis. Microscopically, case 1 revealed a papillary lesion with finger-like processes lined by pseudostratified columnar epithelium with abundant goblet cells. The cells demonstrated moderate degree dysplasia. In case 2 and case 3, both villous adenomas and poorly differentiated adenocarcinoma were observed, the adenoma cells arranged in a cribriform pattern, and the tumor cells showed severe atypia, mitotic activity, and transition with invasive poorly differentiated adenocarcinoma. Immunohistochemically, the tumor cells in three cases were positive for CK20, CEA,EMA and MUC-1; none of them expressed cdx-2 and PSA; In case 2 and 3, the same immunophenotype of villous adenomas and their associated adenocarcinomas was observed, but the number of the positive cells of p53 and Ki-67 staining were significantly increased in the area of adenocarcinomas than in that of the villous adenomas.
CONCLUSIONSVillous adenoma of the urinary tract is rare. It can occur in the urinary bladder, urachus, renal pelvis, ureter and urethra. These lesions may have malignant potential and frequently coexist with other malignant tumors. So, villous adenoma of the urinary tract should be removed completely and sampled thoroughly to avoid missing a more aggressive component.
Adenocarcinoma ; metabolism ; pathology ; surgery ; Adenoma, Villous ; metabolism ; pathology ; secondary ; surgery ; Adult ; Aged ; Carcinoembryonic Antigen ; metabolism ; Follow-Up Studies ; Humans ; Keratin-20 ; metabolism ; Kidney Neoplasms ; metabolism ; pathology ; surgery ; Kidney Pelvis ; Lung Neoplasms ; secondary ; Male ; Mucin-1 ; metabolism ; Neoplasms, Multiple Primary ; metabolism ; pathology ; surgery ; Ureteral Neoplasms ; metabolism ; pathology ; surgery ; Urinary Bladder Neoplasms ; metabolism ; pathology ; surgery
8.Study on genetic aberrations of ocular mucosa-associated lymphoid tissue lymphomas occurring in southern China.
Xue-mei ZHANG ; Wen-yan ZHANG ; Yuan-ping ZHOU ; Xiang-lan MO ; Yong-ping LI ; Gui-qiu WANG ; Ying-qiong ZHOU ; Si-en ZENG ; Gan-di LI ; Hong-tao YE
Chinese Journal of Pathology 2010;39(8):513-517
OBJECTIVETo study the genetic aberrations of ocular extranodal marginal zone B-cell lymphomas of mucosa-associated lymphoid tissue (MALT) type occurring in patients from southern China.
METHODSFifty seven paraffin-embedded ocular MALT lymphoma specimens from patients in southern China were studied by interphase fluorescence-in-situ hybridization (FISH) for genetic aberrations including t(11;18)(q21;q21)/API2-MALT1, t(1;14)(p22;q32)/IgH-bcl-10, t(14;18) (q32;q21)/IgH-MALT1 and bcl-6/FOXP1 gene translocations.
RESULTSAmongst the 57 cases studied, 9 cases (15.8%) showed chromosome translocations, including 4 cases (7.0%) of t(11;18)(q21;q21)/API2-MALT1, 1 case (1.8%) of t(14;18) (q32;q21)/IgH-MALT1, 1 case (1.8%) of bcl-6 gene-related chromosome translocation and 3 cases (5.3%) of IgH-unknown translocation partner. FISH revealed 17 cases (29.8%) with 3 copies of bcl-6 gene, 21 cases (36.8%) with 3 copies of MALT1 gene and 12 cases (21.1%) with 3 copies of both genes.
CONCLUSIONSThe MALT lymphoma-associated chromosome translocations t(11;18)(q21;q21)/API2-MALT1 and t(14;18) (q32;q21)/IgH-MALT1 are demonstrated in ocular MALT lymphomas of southern Chinese patients. The prevalence is significantly different from that reported in northern Chinese and northern American patients, indicating a geographic heterogeneity in the MALT lymphoma-associated genetic aberrations. The presence of 3 copies of bcl-6 and MALT1 genes is the commonest genetic abnormalities observed in ocular MALT lymphomas, suggesting a possible role in MALT lymphomagenesis.
Caspases ; genetics ; metabolism ; China ; Chromosome Aberrations ; Chromosomes, Human, Pair 11 ; genetics ; Chromosomes, Human, Pair 14 ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; Chromosomes, Human, Pair 3 ; genetics ; DNA-Binding Proteins ; genetics ; metabolism ; Eye Neoplasms ; genetics ; metabolism ; Humans ; In Situ Hybridization, Fluorescence ; Lymphoma, B-Cell, Marginal Zone ; genetics ; metabolism ; Mucosa-Associated Lymphoid Tissue Lymphoma Translocation 1 Protein ; Neoplasm Proteins ; genetics ; metabolism ; Proto-Oncogene Proteins c-bcl-6 ; Translocation, Genetic ; Trisomy
9.Expressions of matrix metalloproteinase 9 in mucosal natural killer/T cell and mature T cell lymphomas and its relation to Epstein-Barr virus infection.
Zhi-ying FENG ; Xiang-lan MO ; Chun-Kui SHAO ; Zu-lan SU
Journal of Southern Medical University 2007;27(9):1338-1340
OBJECTIVETo investigate the expression of matrix metalloproteinase 9 (MMP9) in mucosal natural killer/T cell and mature T cell lymphomas and its relation to Epstein-Barr virus (EBV) infection.
METHODSThe expression of MMP9 and EBV-encoded RNA (EBER) were detected by immunohistochemistry and in situ hybridization in 59 cases of mucosal natural killer/T cell and mature T cell lymphomas.
RESULTSThe positivity rates of MMP9 and EBERs were 83.05% and 72.88% respectively. The positivity rate of EBERs was correlated with histopathological subtype (P<0.05), but not with clinical stage, vascular invasion or the patients' survival time (P>0.05). The expression level of MMP9 was not correlated with the clinical stage, vascular invasion or survival time (P>0.05). No significant correlation was found between MMP9 expression and EBV infection.
CONCLUSIONEBV may play an important role in the development of mucosal natural killer/T cell and mature T cell lymphomas and promote disease progression by up-regulating MMP9 expression indirectly. Elimination of EBV infection may be helpful to prevent the development of lymphoma.
Female ; Gene Expression Regulation, Neoplastic ; Herpesvirus 4, Human ; physiology ; Humans ; Lymphoma, T-Cell ; genetics ; pathology ; virology ; Male ; Matrix Metalloproteinase 9 ; metabolism ; Mucous Membrane ; pathology ; virology ; Natural Killer T-Cells ; pathology ; virology
10.Effect of puerarin on the expression of Hsp70 in the rats with cerebral injury induced by acute local ischemia.
Hong-ping PAN ; Xiang-lan MO ; Jia-zhen YANG ; Lu-li LI ; Zhen-lu HUANG ; Jin YE ; Jin HUANG
China Journal of Chinese Materia Medica 2005;30(7):538-540
OBJECTIVETo study the effect of puerarin on the expression of Hsp (heat shock protein) 70 in the rats with cerebral injury induced by acute local ischemia.
METHODRat model of acute local cerebral ischemia was made by ligating middle cerebral artery. The Hsp70 expression in brain tissue was detected by SP method of immunohistochemistry.
RESULTThe expression of Hsp70 was significantly higher in puerarintreated rats than those in the rats with cerebral ischemia.
CONCLUSIONPuerarin can enhance the level of Hsp70 expression in the rats with cerebral injury induced by acute local ischemia.
Animals ; Brain Ischemia ; etiology ; metabolism ; pathology ; Female ; HSP70 Heat-Shock Proteins ; metabolism ; Infarction, Middle Cerebral Artery ; complications ; Isoflavones ; isolation & purification ; pharmacology ; Male ; Neurons ; metabolism ; Neuroprotective Agents ; isolation & purification ; pharmacology ; Plants, Medicinal ; chemistry ; Pueraria ; chemistry ; Rats ; Rats, Wistar

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