OBJECTIVES: To investigate the expression levels of marginal zone B and B1-cell-specific protein (MZB1) in pan-cancer and its association with patient prognosis and tumor microenvironment (TME). METHODS: MZB1 expression data, clinicopathological parameters, and survival data from 33 cancer types were extracted from the UCSC database for analyzing the correlations of MZB1 with clinical stage, patient prognosis, immunomodulatory genes, immune checkpoint genes, tumor stemness, immune cell infiltration, tumor mutational burden (TMB), and microsatellite instability (MSI). MZB1 gene mutations in pan-cancer were assessed using cBioPortal online database, and the value of MZB1 for cancer diagnosis was evaluated using ROC curve analysis. MZB1 expression levels in myeloid leukemia and renal carcinoma cells were detected using RT-qPCR and Western blotting, and the effect of MZB1 knockdown on cell proliferation was examined using EdU assay. RESULTS: MZB1 was significantly overexpressed in 20 cancer types, including kidney renal clear cell carcinoma (KIRC), breast invasive carcinoma, and acute myeloid leukemia. Its expression was associated with TNM stage, clinical stage, overall survival, and progression-free survival in multiple cancers. In most tumors, MZB1 expression was correlated significantly with immunomodulatory genes, immune checkpoint genes, tumor stemness, immune cell infiltration, TMB, and microsatellite instability. Gene amplification was the predominant mutation type of MZB1 in pan-cancer, and MZB1 showed high diagnostic value for skin cutaneous melanoma, KIRC, and head and neck squamous cell carcinoma. MZB1 was highly expressed in different myeloid leukemia cell lines and renal carcinoma cell lines, and MZB1 knockdown significantly suppressed the proliferation of HL60 and 769-P cells. CONCLUSIONS MZB1 is highly expressed in a variety of tumors, and its aberrant expression affects the occurrence and prognosis of many tumors, suggesting its potential as a novel tumor biomarker and immunomodulatory target.
Humans ; Prognosis ; Tumor Microenvironment ; Neoplasms/pathology* ; Cell Line, Tumor ; Mutation ; Kidney Neoplasms ; Microsatellite Instability ; Cell Proliferation ; Carcinoma, Renal Cell

OBJECTIVE: To explore the genetic basis for a fetus with club foot detected upon mid-pregnancy ultrasonography. METHODS: Amniotic fluid of the fetus and peripheral blood samples of its parents were collected and subjected to G-banding karyotype analysis and copy number variation sequencing (CNV-seq). The result was verified by fluorescence in situ hybridization (FISH). RESULTS: The fetus and its parents all had a normal karyotype. CNV-seq analysis revealed that the fetus has harbored a 23.12 Mb on chromosome 5 and a 21.46 Mb duplication on chromosome 7. FISH assay has verified that its mother has carried a cryptic t(5;7)(p14.3;q33) translocation. CONCLUSION CNV-seq combined with FISH can effectively detect cryptic chromosome aberrations, and can help to reduce severe birth defects and provide a basis for prenatal genetic counseling.
Pregnancy ; Female ; Humans ; Cri-du-Chat Syndrome ; In Situ Hybridization, Fluorescence ; DNA Copy Number Variations ; Prenatal Diagnosis ; Fetus ; Amniotic Fluid ; Chromosome Deletion

Objective:To investigate secondary factors, laboratory features, treatment options, and prognosis of pure red cell aplastic anemia (PRCA) .Methods:This was a multicenter retrospective clinical study. Patients aged above 18 years newly diagnosed with PRCA between June 1, 2010, and June 1, 2019, were recruited as the main study object. A comparative analysis of remission rate and overall survival rate was made according to different treatment schemes adopted by patients and different drug reduction rates.Results:A total of 67 patients with PRCA were included in this study and the secondary PRCA group accounted for 44.8% (30/67) . The most common secondary factors were thymoma ( n=10) and T-cell large lymphocytic leukemia (T-LGLL) ( n=6) . The overall response rate of PRCA was 85.7% and the 3-year overall survival rate of PRCA was (74.3±7.5) %. The remission rate of cyclosporine A alone was slightly higher than that of oral glucocorticoid alone or combined with glucocorticoid[90.0% (36/40) vs 75.0% (12/16) , P=0.147]. After patients applied with cyclosporine A treatment reached CR/PR and remained stable for 3-6 months, the dose of cyclosporine A was reduced by 25 mg each time. The cyclosporine A reduction interval of a 25 mg/d reduction in more than 1 month significantly prolonged the median disease-free survival compared with a 25 mg/d reduction in less than 1 month [not reached vs 15 (95% CI 7-23) months, P<0.001]. There were 62.5% (10/16) of patients who responded to the initial or incremental treatment regimen after relapse. Conclusion:PRCA has features of various secondary factors, high overall survival rate, and high remission rate. Treatment with cyclosporine A alone is preferred, and cyclosporine A should be slowly tapered to reduce the risk of later relapse after it takes effect and patients reach a steady state.

Objective To study on the application of biological variation total allowable error in quality management of serum lipid detection .Methods The σ score ,quality goal index (QGI) ,priority improvement measures and performance evaluation of lipid accuracy criteria were evaluated ,including cholesterol (CHOL) ,triglyceride (TG) ,high density lipoprotein (HDL‐C) ,low density lipoprotein (LDL‐C) ,which included in the standard of accuracy of the Ministry of Health in 2015 .The reason for unsatisfactory re‐sults of cholesterol (CHOL) test were analyzed .Results Based on the three levels of quality specifications derived in biological var‐iation ,when the total allowable error was located at an appropriate level ,the σ score of TG ,HDL‐C ,LDL‐C reached 6 ,it was not re‐quired for improvement .While the score of CHOL performance analysis was poor ,accuracy was required to give priority to impro‐ving .When the total allowable error reached the best level ,only the σ score of TG achieved “good” in the four items ,improvement of precision was needed .When the total allowable error was located at the lowest level ,the σ score of TG ,HDL‐C ,LDL‐C was grea‐ter than 6 ,the score of performance analysis reached the “excellent” .The σ score of CHOL (2 .9) had been closen to 3σ ,accuracy was required to be corrected .Conclusion The biological variation derived total allowable error is easy to meet the requirements of the quality management in serum lipid determination by current technologies and methods .The theory of 6σ quality can reflect the performance of detection indexes ,and improve the quality of analysis effectively .

Objective To provide the evidence for cooperation in research on Kashin-Beck disease in China by ana-lyzing the research competence of authors in papers on Kashin-Beck disease and their cooperation .Methods Papers on Kashin-Beck disease were retrieved from 4 commonly used Chinese perodical databases .Key words Information was collected and organized using BICOMS to produce a co-words matrix,atlas of co-words was plotted using NetDraw, the data were analyzed using SPSS 17.0.Results Of the 3454 authors engaged in research of Kashin-Beck disease from 1957 to 2012,81 published 15 or more than 15 papers.Cluster analysis showed that these 81 authors were from Institute of Endemic Diseases,Xi'an Jiaotong University Medical School; Institute of Kashin-Beck Disease,Chinese Center for Endemic Disease Prevention and Control;Jilin No.2 Center for Endemic Disease Prevention and Control;Centers for Disease Prevention and Control of China Academy of Sciences , Henan Province and Gansu Province .Conclusion A large number of researchers are engaged in research of Kashin-Beck disease .Their research interest and charac-teristics are clear.However, the cooperation between different institutions is weak and should be strengthened.

Objective To reveal the main interests in studies of Kashin-Beck disease by analyzing the key words in Chinese papers on Kashin-Beck disease .Methods Chinese papers on Kashin-Beck disease were retrieved from CNKI, CBM, VIP, and Wanfang digital journal full-text database.A co-word matrix was generated by abstracting their key words which were analyzed by gCLUTO clustering .Results The studies on Kashin-Beck disease were centered on the role of fusarium metabolic toxins and fulvic acid in pathology of Kashin-Beck disease, etiology of Kashin-Beck disease, functional change in Kashin-Beck disease patients, relation between Kashin-Beck disease and geological envi-ronment, monitoring and X-ray diagnosis of Kashin-Beck disease, surgical treatment of Kashin-Beck disease, preven-tion and treatment efficiency analysis of Kashin-Beck disease.Social network figure showed that etiology of Kashin-Beck disease, relation between Kashin-Beck disease and geological environment, monitoring and X-ray diagnosis of Kashin-Beck disease, surgical treatment of Kashin-Beck disease, prevention and treatment efficiency analysis of Kashin-Beck disease were the hot spots in studies of Kashin-Beck disease at present.Conclusion The research subjects determined by co-word clustering analysis are consistent with the interests in studies of Kashin-Beck disease in China at present.

Objective To investigate the value of contrast-enhanced ultrasound (CEUS) in diagnosis of renal epithelioid angiomyolipoma (eAML).Methods The CEUS features of 18 patients with 18 histopathologically proved renal eAMLs were retrospective analyzed using both of qualitative and quantitative approachs.Tumor conventional ultrasound and CEUS features were observed.The Sonoliver software was applied to perform quantitative analysis,which provided five parameters,including the maximum intensity (IMAX),rise time (RT),time to peak (TTP),mean transit time (mTT) and area under the curve (AUC).Results All of 18 lesions were pathological proved as eAML,among them,heterocyst was observed in 7 lesions,1 lesion had dissemination inter-kidney and vessel invasion,necrosis or cystic degeneration was found in 3 eAMLs.On conventional ultrasound,eAML showed hypoecho,isoecho and hyperecho were 14(77.8％),3(16.7％) and 1 (5.6％) respectively.Blood flow could be detected in 16 (88.9％) lesions.On CEUS,the characters of slow-in,synchronous-in,slow centripetal enhancement and entire enhancement were observed in 10 (55.6％),8 (44.4％),8 (44.4％) and 12 (55.6％) lesions,respectively.Most of eAMLs showed homogeneous enhancement (15/18,83.3％) and hyper-or iso-enhancement (16/18,88.8 ％) at peak time.The characters of fast-out,synchronous-out and slow out were observed in 8 (44.4％),2 (11.2％) and 8 (44.4％) cases,respectively.Pseudocapsule was detected in 5 (27.8％) lesions.The parameters of RT,TP and AUC for eAMLs were higher than that for renal cortex (P ＜ 0.05),while the parameters of IMAX and mTT had no significant statistical difference between eAMLs and renal cortex(P ＞0.05).Conclusions Qualitative and quantitative analysis of CEUS reflect the blood perfusion of eAMLs in different aspect,which offer some useful informations for the diagnosis of eAMLs.

OBJECTIVETo compare the postoperative recovery among patients undergoing orthotopic bladder substitution with sigmoid or ileal grafts.

METHODSThe clinical data and postoperative recovery (postoperative complications, continence recovery time and postoperative hospital stay) of 84 patients receiving orthotopic bladder substitution with sigmoid or ileal grafts after radical cystectomy for bladder cancer were analyzed.

RESULTSOf the 84 cases, 70 had continent urinary reservoirs constructed, among whom 58 (aged 48-89 years) received an ileal neobladder (IN) and 12 (aged 28-80 years) received a sigmoid neobladder (SN). The postoperative complications rate, continence recovery time and postoperative hospital stay in IN group was 29.3% (17/58), 91.4%, and 23.5 days, as compared to 58.3%(7/12) (P=0.04), 66.7% (P=0.03), and 25 days (P=0.04) in patients in SN group, respectively.

CONCLUSIONA neobladder constructed from ileal grafts achieves better postoperative recovery results compared to a neobladder constructed from sigmoid grafts.

Adult ; Aged ; Aged, 80 and over ; Colon, Sigmoid ; transplantation ; Female ; Humans ; Ileum ; transplantation ; Male ; Middle Aged ; Reconstructive Surgical Procedures ; methods ; rehabilitation ; Urinary Bladder Neoplasms ; rehabilitation ; surgery ; Urinary Diversion ; methods ; rehabilitation

Objective To investigate the life quality (QoL) of end stage renal disease patients. Methods KDQOL-SFTM1.2 scale was used to assess the life quality of end-stage renal disease patients who received maintenance hemodialysis or Newly diagnosed but not yet received renal replacement therapy more than three months in the First Affiliated Hospital of Kunming Medical University or the Yunnan Kidney Disease Hospital from March 2011 to July 2012. Results (1) The QoL of maintenance hemodialysis group was significantly higher than not yet started renal replacement therapy group in the Physical functioning (PF),Role physical (RP),Body pain (BP) fields, the difference was statistically significant ( <0.05) . (2) The QoL of maintenance hemodialysis group was significantly higher than not yet started renal replacement therapy group in the Symptom/problem list (SPL), Sleep fields,but lower than not yet started renal replacement therapy group in the Effects of Kidney disease (EKD), Work status (WS) fields,the difference was statistically significant (<0.05) . Conclusion The life quality of maintenance hemodialysis patients is higher than newly diagnosed but not yet started renal replacement therapy patients in some aspects.

Acetylcholinesterase (AChE) plays a key role in the pesticide determination. However, the extraction of AChE from natural materials has the disadvantages of low yield, complex purification and poor stability. Therefore, the preparation of recombinant AChE with high performance becomes the hot topic of researchers in recent years. In this article we summarize the progress in the expression of recombinant AChE and the improvement of its analytical characteristic. Finally, we point out that the directed evolution strategy combined with surface display technology is the future trend on improving recombinant AChE activity.
Acetylcholinesterase ; biosynthesis ; chemistry ; genetics ; Baculoviridae ; genetics ; metabolism ; Cell Surface Display Techniques ; Cholinesterase Inhibitors ; analysis ; Evolution, Molecular ; Genetic Vectors ; genetics ; Pesticide Residues ; analysis ; Pichia ; genetics ; metabolism ; Recombinant Proteins ; biosynthesis ; genetics