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Objective@#To compare the carcinogenic abilities of CD133+CD44+ laryngeal cancer stem cells and general laryngeal cancer stem cells and to identify the mechanism underlying the action of miRNAs.@*Methods@#Solid tumor-derived laryngeal carcinoma stem cells and Hep-2-derived laryngeal carcinoma stem cells were cultured, and CD133+CD44+ laryngeal cancer stem cells were sorted by flow cytometry. Boden chamber invasion assay, cell migration assay and tumor formation assay were then performed to compare the invasion, migration and tumorigenic abilities of CD133+CD44+ laryngeal cancer stem cells and general laryngeal cancer stem cells. And then, miRNAs isolated from two laryngeal cancer stem cells were detected and analysed with miRNA chip.@*Results@#(1)In Boyden chamber invasion assay, the cell invasion rate of CD133+CD44+ laryngeal cancer stem cells was obviously higher (80.2%±2.3% vs. 63.9%±3.2%, t=5.011, P=0.027); (2)CD133+CD44+ laryngeal cancer stem cells also had higher mobility in cell migration assay (82.9%±1.1% vs. 70.9%±0.6%, t=4.514, P=0.031); (3)In tumor formation assay, the tumor formation rate of CD133+CD44+ laryngeal cancer stem cells was also higher (80% vs. 50%). What′s more, we identified 15 miRNAs that were significantly upregulated in CD133+CD44+ laryngeal cancer stem cells and 3 miRNAs that were significantly downregulated in CD133+CD44+ laryngeal cancer stem cells, compared with normal laryngeal cancer stem cells.@*Conclusions@#CD133+CD44+ laryngeal cancer stem cells have stronger invasion, migration and tumorigenic abilities compared with normal laryngeal cancer stem cells, and the difference of miRNAs′ expression is one of the possible causes.
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Objective To evaluate the efficacy of tinnitus retraining therapy (TRT) on anxiety , depression , and symptoms of sleep disorders in patients with chronic subjective tinnitus. Methods Eighty patients with chronic subjective tinnitus visiting The Affiliated Hospital of Hangzhou Normal University from January 2016 to December 2017 were recruited ,and were divided into an observation group and a control group through computer generated random numbers. Patients in the control group were given drug treatment only ,while those in the observation group received TRT in addition to drug treatment. Clinical efficacy was evaluated using Tinnitus Handicap Inventory (THI) , Pittsburgh Sleep Quality Index (PSQI) ,Hamilton Depression Scale (SDS) ,and Hamilton Anxiety Scale (SAS ) for both groups. Results Patients in the observation group were associated with significantly lower scores of THI ,PSQI ,SAS and SDS ,compared with those in the control group 3 months after treatment (each P＜0.05). Furthermore ,the effectiveness rate was markedly higher (82.5% or 33 cases vs. 55.0% or 22 cases ,χ2＝7.040 ,P＜0.01) in the observation group than in the control group 6 months after treatment. Conclusion Tinnitus retraining therapy combined with conventional therapy can help to reduce the severity of tinnitus handicap ,ameliorate negative emotions such as anxiety and depression ,and improve sleep quality in patients with chronic subjective tinnitus.
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Objective To discuss the optimalselection of the puncture path in performing CT-guided pericardial drainage,and to evaluate its clinical feasibility and safety.Methods A total of 114 patients with pericardial effusion,who were admitted to authors' hospital during the period from May 2013 to March 2016,were enrolledin this study.The appropriate body position and suitable needle-puncturing route were selected,and CT-guided pericardial drainage with Seldinger'stechnique was performed.Results Successful puncturing and catheter drainage was obtained in all 114 patients,no any serious complication occurred.The time used for manipulation was 18-30 min.Conclusion The use of right puncture path is of great importance for the performance of CT-guided pericardial drainage for pericardial effusion,this technique is highly feasible and safe for relieving the clinical symptoms of pericardial tamponade.
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Objective By using array-based single nucleotide polymorphisms comparative genomic hybridization (SNP-aCGH) to detect and fine mapping copy number variations (CNVs) in children with unexplained mental retardation/brain development delay(MR/BD),then the CNVs were analyzed to determine diagnosis and offer genetic counseling,finally to discuss the application of SNP-aCGH in genetic diagnosis of MR/BD with unknown causes.Methods Ninety-two children with unexplained MR/BD were recruited.SNP-aCGH was used to get CNVs from the whole genome-wide,and the correlation of CNVs and phenotype was analyzed to definit disease genes or pathogenic fragment.Statistics was performed to analyze the common phenotype between positive cases (case with CNVs) and negative cases.Results (1) The CNVs were detected in 10 cases with a detection rate of 10.86％,from which 8 cases showed subtelomeric aberration,5 cases without subtelomeric aberration,and the rate was 8.70％,5.40％,respectively.The CNVs related to MR/BD involved 10 different subtelomeric regions (9p,21q,3p,2p,15q,4p,12p,22q,16p,17p),and 7 different regions without subtelomeric (1p,4q,2p,14q,15q,12q,22q).The deletions involved 11 zones (size:1.05-8.80 Mb),and duplications referred to 8 zones (size:1.33-31.25 Mb).(2) One case was diagnosed as 9p duplication syndrome,for candidate genes:DOCK8,VLDLR.A case was detected with a gene fracture (CRBN).One case was diagnosed as Coffin-Sirrs syndrome combined with a deletion of 15q26.3-qter,for candidate genes:SOX11 and LINS1,respectively.One case referred to 12p13.3 deletion syndrome,for candidate genes:ELKS,ERC1.One case referred to 22q13.2-qter deletion,for candidate genes:SHANK3.Two cases were diagnosed as ATR-16 syndrome with 17p13.3 deletion syndrome,their candidate genes:HBA1,HBA2,SOX8 for the former,YWHAE,LIS1 for the latter.(3)There were statistically significant differences in comparison of positive cases to the negative ones for growth delay,internal organs deformity,low birth weight infant(LBW) and premature infant (all P ＜0.05).Conclusions (1) Besides MR/BD in different degrees in all the positive cases,they also showed growth delay,a portion of them with internal organs deformity,low birth weight infant and premature infant.(2) Subtelomeric aberrations are related to MR/BD,while the submicroscopic rearrangement in regions without subtelomeric is suspiciously pathogenic,and need to be further studied.(3) SNP-aCGH can fine mapping the region of CNVs by high resolution from the whole genome-wide,which does contribute to limit the zones for finding pathogenic region and candidate genes,as well as to offer a technology platform for investigating about the correlation of phenotype and genes or CNVs.
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Objective To analyze the genotype-phenotype correlations of Angelman syndrome ( AS ) , and to discuss the advantage of applying array-based single nucleotide polymorphisms comparative genomic hybridization ( SNP aCGH) in diagnosis of AS. Methods Examination of electroencephalogram( EEG) and intelligence quotient( IQ) evaluation were done for 11 cases diagnosed as AS clinically. Gesell scares were chosen as the evaluation criterion of IQ. The screening techniques was methylation polymerase chain reaction( MS-PCR) ,then SNP aCGH was used to make genetic diagnosis. Results (1)Eleven cases of AS were confirmed:1 case had UPD(uniparental disomy),10 cases were type of deletion, from which 6 cases were deletion (Ⅱ) , 4 cases were deletion (Ⅰ) . ( 2 ) The copy number variations were detected in the region of 15q11-q13,which contained genes like MKRN3,MAGEL2,NDN,SNRPN, SNURF,GABRB3,GABRA5,GABRG3,UBE3A,OCA2,ATP10A. To search online Mendelian inheritance in man,genes above were correlated with AS manifestation. (3)All cases of deletion were 3-5 standard deviation(SD) in weight and height to normal children at the same age and with the same sex,while UPD was below 1. 5 SD. Gesell scares showed that the deletion(Ⅰ) was the most serious in mental retardation,deletion(Ⅱ) was moderate,and the UPD was mild. Eight cases were hypopigmentation,and one was the UPD. EEG revealed that 1 case of deletion(Ⅰ) and the UPD were spike occasionally,another one deletion(Ⅰ) was limit EEG. The rest cases displayed slow and spike waves paroxysmal-ly,with amplitude of medium or high,2. 5-3. 0 Hz. Conclusions Not only can SNP aCGH make a diagnosis of AS but discriminate the types of genetic pathology. Since different type contributes to a diverse of clinical features and the rate of recurrence is also different,it is significant for family genetic consultation. Moreover,the technology is advantageous for the study on the pathogenesis and gene function.
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Objectives To detect genetic causes of dystrophic epidermolysis bullosa (DEB). Methods Next-generation sequencing was used to detect a neonate with DEB. Sanger sequencing was used to confirm the results and detect his parents and grandmother on his mother side from the family. Results The neonate was found to have heterozygous mutation c.6781C>T of exon 86 in COL7A1 gene.This mutation results in R2261X nonsense mutation in typeⅦcollagen. His mother and grand-mother on his mother side have the same mutation. Conclusion Next-generation sequencing technology is a useful tool for the detection of mutations of COL7A1 gene, which is valuable for clinical application.
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Objective Discuss the methodology and significance of clinical transfusion assessment,establish an effective evaluation system for blood transfusion,identify rational indexes for the evaluation,and promote quality of clinical transfusion.Methods Development of the clinical blood transfusion assessment regulations,tightened blood transfusion approval system,enhanced medical record check for blood transfusion,better statistics for the data collected,and analysis of data in 2012 to compare changes in blood volume before and after tighter management in place.These efforts aim at improving the assessment system for optimal clinical blood transfusion.Results Compared to Jan.-June in 2012,patients discharged and surgical cases in Dec.of the same year dropped 2.15％ and 0.73％ respectively.However,the volume of blood transfusion decreased 22.7％,the percentage of blood transfusion for inpatients decreased from 8.78％ to 7.17％,and the average use of blood for inpatients decreased from 0.73U to 0.57U.Conclusion Reasonable and scientific assessment for blood transfusion and better clinical blood use management can improve blood transfusion therapeutic efficacy and save blood resources.
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Objective To investigate the diagnosis of a case with 7p15.3p22.1 microdeletion by applying array-based comparative genomic hybridization (array-CGH) and to analyze the relationship between the clinical manifestations and 7p15.3p22.1 microdeletion. Method Array-CGH technique was used to detect genomic copy number variations (CNVs) in an infant with normal karyotype after conventional chromosomal karyotyping. Results Array-CGH detected 7p15.3p22.1 deletion (chr7: 6777262-23981753), which was confirmed as pathogenic CNV after comparative analysis with database. Conclusion Array-CGH could serve as a useful complement for G-banding to be used in the clinical cytogenetic diagnosis.
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<p><b>OBJECTIVE</b>To analyze the clinical features, metabolic profiling and gene mutations of patients with ornithine transcarbamylase deficiency (OTCD) and explore the molecular pathogenesis of OTCD in order to provide a solution for molecular diagnostics and genetic counseling.</p><p><b>METHODS</b>Clinical data of 3 neonates were analyzed. The amino acids level in blood was analyzed with mass spectrum technology. PCR was used to amplify all the 10 exons of OTC gene. The PCR products were directly sequenced to detect the mutations.</p><p><b>RESULTS</b>All of the 3 cases had neonatal onset and showed poor reaction, feeding difficulty, convulsion and neonatal infection. Citrulline levels were significantly decreased. Case 1 had a missense mutation of Y183C. Case 2 showed a missense mutation of V339G in exon 10. And a missense mutations of W332S in exon 9 was detected in case 3.</p><p><b>CONCLUSION</b>Analysis of OTC gene sequences can be used for the diagnosis of OTCD and screening of asymptomatic carriers. Mutation analysis is important for prenatal diagnosis of individuals with a positive family history and genetic counseling. The V339G and W332S mutations have been discovered for the first time. Patients with such mutations may have onset of the disease during neonatal period.</p>
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Humains , Mâle , Mutation , Ornithine carbamoyltransferase , Génétique , Déficit en ornithine carbamyl transférase , Génétique , MétabolismeRésumé
Dynamic contrasted-enhanced perfusion MR imaging can provide noninvasive and physical maps of cerebral microcirculation. The tumor vascularities are assessed by calculating cerebral blood volumes of the normal cerebral tissue and tumor tissue from imaging signal intensities. This technique is helpful to better evaluate the histopathological grade of gliomas, determine the biopsy site for tumors. And it is very useful for the preoperative diagnosis of gliomas, solitary metastases, cerebral lymphomas, as well as differentiating tumor recurrence after surgical resection and radiotherapy from radiation necrosis. But there are some limitations in evaluating extraaxial tumors and cerebral tumors with severe breakdown of blood-brain barrier.