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1.
Chinese Journal of Laboratory Medicine ; (12): 1099-1103, 2022.
Artigo em Chinês | WPRIM | ID: wpr-958627

RESUMO

With the rapid development of sequencing technology and bioinformatics analysis, the application of high-throughput sequencing (NGS) technology in precision medicine has been deepening, mainly in genetic disease diagnosis, tumor gene detection and concomitant diagnosis, as well as infectious disease detection. Compared with the traditional clinical tests, NGS analysis are more complicated with tedious operation steps and complex workflow, and they have high requirements for data analysis and variant interpretation. NGS approaches were reviewed in clinical diagnosis for constitutional disorders, cancer, infectious diseases as well as current issues in these clinical applications. Finally some suggestions for the quality management of laboratories were discussed.

2.
Chinese Journal of Laboratory Medicine ; (12): 786-789, 2021.
Artigo em Chinês | WPRIM | ID: wpr-912476

RESUMO

Point-of-care testing (POCT) is one of the fastest growing disciplines of clinical laboratory medicine. It serves as a convenient tool for rapid clinical diagnosis. However, the increasing demand for POCT testing and the continuous expansion of the testing field has brought many new challenges to its quality management. This paper would introduce the problems existing in the clinical application of POCT, discuss the corresponding quality improvement suggestions and explore new thinkings for standardizing POCT management.

3.
Chinese Journal of Clinical Laboratory Science ; (12): 445-447, 2019.
Artigo em Chinês | WPRIM | ID: wpr-821742

RESUMO

Objective@#To develop a kind of quality control material which simulates clinical specimens for detecting plasma methylated Septin9 (mSEPT9) and investigate the performance for mSEPT9 detection in external quality assessment (EQA) of laboratories. @*Methods@#The cultured Hela and Jurkat cells, known to contain methylated and unmethylated Septin9 gene respectively, were cultured. The genomic DNA of the cells was collected and extracted, and detected by mSEPT9 kit. According to the Ct value, the genomic DNA was diluted into different concentrations of quality control materials with negative plasma. The homogeneity and stability of the quality control materials were evaluated. The panels consisted of 5 blindly coded samples were distributed to EQA participants and the results were summarized and evaluated. @*Results@#The purity and concentration of extracted genomic DNA met with the needs of use and could be used as quality control products for mSEPT9 detection. The homogeneity and stability met with the requirements of China National Accreditation Service for Conformity Assessment. Some of the participating laboratories occurred false positive results and false negative results, and a good linear correlation for the detected results (Ct values) was only observed in about 55.6% of the laboratories. Among the 9 participating laboratories, 7 laboratories (77.8%) performed well, 1 laboratory (11.1%) qualified, and 1 laboratory (11.1%) unqualified. @*Conclusion@#The quality control materials for mSEPT9 detection was successfully developed and the application in external quality assessment should be of great significance for evaluating and improving the detection ability of clinical laboratory.

4.
Chinese Journal of Clinical Laboratory Science ; (12): 142-145, 2019.
Artigo em Chinês | WPRIM | ID: wpr-821297

RESUMO

Objective@#To evaluate the external quality assessment (EQA) program for genotyping results of tacrolimus metabolism-related cytochrome P450 family 3 subfamily A member 5 ( CYP3A5 )using plasmid DNA constructed in vitro as quality control samples, discuss the problems in clinical laboratories enrolled in the program and improve the detection quality of CYP3A5 gene. @*Methods@#Recombinant plasmid carrying CYP3A5 *3 (rs776746) AA locus sequence was constructed as wild type sample and plasmid with CYP3A5 *3 GG mutation as mutant type sample. Heterozygous mutant samples were obtained by mixing the two plasmids with equal proportion. Recombinant plasmids DNA were used as the sample panel for EQA scheme. Participating laboratories were asked to test the samples using their routine methods and report the results before deadlines. The scores of each laboratory were calculated based on their results and the overall coincidence of different samples as well as the sensitivity and specificity of different methods. @*Results@#CYP3A5 *3 locus genotypes of the constructed plasmid were verified by Sanger sequencing. The results of 15 and 17 valid laboratories were received respectively in the two EQA programs. The total percentage of 93.33% (14/15) and 100% (17/17) of the laboratories submitted correct results for all the samples. The overall coincidence rates were 96% (72/75) and 100% (85/85) respectively. All the laboratories using digital FISH got full marks in two EQA schemes, while the coincidence rates were 90% (27/30) and 100% (40/40) for Sanger sequencing. @*Conclusion@#The recombinant plasmid DNA constructed in this study could effectively detect the performance of reagents with good clinical applicability. The results of EQA programs suggested that the overall accuracy rate of enrolled laboratories was high enough, while the performances in some laboratories still need to be improved. Quality controls in clinical laboratories were essential to assure the accuracy of results.

5.
Chinese Journal of Plastic Surgery ; (6): 296-299, 2019.
Artigo em Chinês | WPRIM | ID: wpr-804856

RESUMO

A male patient, with diagnose of Madelung disease, was admitted in September 2009. He has been a heavy drinker for decades before onset of the disease. This patient was characterized by the large amount of symmetrical deposits of adipose tissue in the subcutaneous layer around neck, and without obesity on other sites. The excessive adipose tissue was surgically removed by three steps. Appearance almost returned to normal. No recurrence happened after 8 years of follow-up.

6.
Chinese Journal of Laboratory Medicine ; (12): 749-754, 2018.
Artigo em Chinês | WPRIM | ID: wpr-712205

RESUMO

Objective To evaluate the performance of MTHFR 677 genotyping external quality assessment ( EQA) program using plasmid DNA constructed in vitro as quality control samples and discuss the problems in clinical laboratories enrolled in the program .Methods Recombinant plasmid carrying MTHFR 677C locus sequence was constructed as wild type sample and plasmid with MTHFR 677T mutation was generated with site-directed mutagenesis as mutant type sample .Heterozygous mutant samples were obtained after equal proportion of the two plasmids .EQA scheme were held twice a year in 2016 and 2017, and sample panels contained 5 different samples using recombinant plasmid DNA containing all types of MTHFR 677 locus genotypes.Participating laboratories were asked to test samples using their routine methods and report the results before deadlines .26, 28, 52 and 56 effective reports were received respectively in the four EQA schemes .The scores of each lab were calculated based on their results and the overall compliance of different samples as well as the sensitivity and specificity of different methods were calculated using Microsoft Excel .Results MTHFR 677 locus genotypes of the constructed plasmid were verified by Sanger sequencing and there was no failure of sample detection in the four EQA schemes , which suggest that the plasmid has good clinical applicability .About 96.15%( 25/26 ) ,100%( 28/28 ) ,96.15% (50/52)and 98.21%(55/56) of the laboratories submitted correct results for all samples in the four EQA schemes.The overall compliance rate were 99.23% ( 129/130 ) , 100%( 140/140 ) ,96.92% ( 252/260 ) and 98.93%(277/280) respectively.All laboratories using digital FISH and microarrays got full marks in four EQA schemes.The compliance rates for fluorescent PCR were 97.5% ( 39/40 ) , 100% ( 45/45 ) , 94.29%(66/70) and 100% (95/95) respectively, while the rates were 100% (20/20), 100% (15/15), 90%(36/40) and 92.5%(37/40) for Sanger sequencing.Conclusions The recombinant plasmid DNA constructed in this study can effectively detect the performance of reagents with good clinical applicability.The results of EQA programs suggested that the overall accuracy rate of laboratories enrolled was high enough , while some laboratories′performance still needs to be improved .Quality controls in clinical laboratories were essential to assure the accuracy of results .

7.
Chinese Journal of Laboratory Medicine ; (12): 85-87, 2018.
Artigo em Chinês | WPRIM | ID: wpr-712106

RESUMO

Gene detection related to tumor targeted therapy, pharmacogenomics, birth defects area is now widely used in clinical laboratories with the introduction of"precision medicine"concept.As next-generation-sequencing and digital PCR technology get to clinical application quickly, clinical medical decision is highly dependent on molecular diagnosis test results, therefore, the requirements for tests accuracy is unprecedented.However,the continuous development and fast expansion of molecular diagnosis technology brings outstanding quality problems.Its quality management also faces new challenges, which deserve the attention of medical laboratories and regulation bureaus.

8.
Chinese Journal of Laboratory Medicine ; (12): 532-535, 2016.
Artigo em Chinês | WPRIM | ID: wpr-496179

RESUMO

Personalized medicine has revolutionized patients ′care, and results in a personalized drug choice and dosage, through integration of pharmacology , drug information and individual ′s genetics information.The genetic testing for genes involved in drug metabolisms and targets become more and more important.However, the variety of the tests as well as the complexity of the technology brought great challenges in laboratory managements and quality assurance for individual clinical laboratory .This article briefly described the development status of pharmacogenomics and focused mainly on the routine quality assurance principle for four different techniques adopted by related genetic testing , and then presented recent research progression of related reference materials in genetic testing .Finally, the author prospects briefly the future development aspect of the quality control system .

9.
Chinese Journal of Laboratory Medicine ; (12): 95-98, 2016.
Artigo em Chinês | WPRIM | ID: wpr-489079

RESUMO

Objective To investigate the relationship between anti-HCV antibody level and hepatitis C virus genotype in the patients.Methods Total of 603 anti-HCV positive serum samples were collected during 2013 to 2014 by retrospective research method.HCV RNA were detected in anti-HCV positive samples by repeat test and the genotype were detected in HCV RNA positive samples.The distribution of anti-HCV level in different hepatitis C genotype patients was analyzed and the body's response to viral antibodies and viral genotype correlation with anti-HCV concentration interquartile range was explored.Rates among genotype groups were compared using chi-square test.Results Totally 412 of 603 (68.33%) samples were anti-HCV positive by double reagent screening.174(42.3%) samples were detected as HCV RNA positive.The distributions of different anti-HCV level in different genotype patients were 1a(n =8) 1/8,1/8,4/8,2/8;1b(n =112)25.9% (29/112),17.0% (19/112),25.9% (29/112),31.3% (35/112);2a(n =14)3/14,4/14,5/14,2/14;3a(n =11)3/11,6/11,2/11,0/11;3b(n =16)4/16,11/16,1/16,0/16;6a(n =8)2/8,2/8,1/8,3/8 with anti-HCV concentration interquartile range respectively.The anti-HCV concentration distribution was different in patients with different HCV genotypes.The anti-HCV concentration distribution in patients of 1 b,2a and 6a genotypes were evently,while anti-HCV level was relatively high in 1a (13.65) and relatively low in 3b (8.77).There were differences in different genotypes of antibody concentrations (x2 =35.2,P < 0.05).Conclusions There was correlation between anti-HCV level and HCV genotype.Because there were fewer cases in some genotypes,it was necessary to investigate more samples to corfirm the above results.

10.
Chinese Journal of Laboratory Medicine ; (12): 125-129, 2013.
Artigo em Chinês | WPRIM | ID: wpr-431396

RESUMO

Benefit from the completion of human genome project and the rapid development of bioinformatics,the clinical molecular diagnostics continues to expand its scope of application which involves more widely use in infectious diseases,genetic diseases and tumors and other aspects.In the clinical molecular diagnostics,the application of international standard materials could effectively guarantee the quality of laboratory tests.This paper reviews the research progress in well-established international standard materials used for molecular diagnosis.

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