Pub Date : 2022-12-01DOI: 10.1515/labmed-2021-0138
F. He, K. Zhong, S. Yuan, Yuxuan Du, Wei Wang, Zhiguo Wang
Abstract Objectives This study intends to evaluate prenatal screening risk assessment performance based on biological variation to help clinical laboratories realize their own screening performance and set the appropriate performance specifications for prenatal screening risk assessment in China. Methods Fifteen samples with detailed clinical information were distributed to participants and the prenatal screening Down syndrome risk assessment of each sample were submitted. Three levels of performance specification (optimum, desirable, minimum) derived from biological variation were used to evaluate laboratory prenatal screening risk assessment performance. Results A total of 797 laboratories participated in the survey project. There are 216 laboratories using serological double-marker test and 581 laboratories using serological triple-marker test. For each screening protocol, more than 92.00% laboratories meet minimum performance specifications, more than 84.00% laboratories meet desirable performance specifications, and only about 62.50%laboratories meet optimum performance specifications. The Feltz and Miller test indicated that there were no significant statistical differences in the RCV for double-marker screening in 5 platforms and triple-marker screening in 6 platforms. Conclusions The risk assessment of prenatal screening in the second trimester in China can be improved further. It is appropriate to choose desirable performance specifications for external quality assurance organizations to evaluate the risk assessment performance.
{"title":"Evaluation laboratory prenatal screening performance based on biological variation of risk assessment in second trimester in China","authors":"F. He, K. Zhong, S. Yuan, Yuxuan Du, Wei Wang, Zhiguo Wang","doi":"10.1515/labmed-2021-0138","DOIUrl":"https://doi.org/10.1515/labmed-2021-0138","url":null,"abstract":"Abstract Objectives This study intends to evaluate prenatal screening risk assessment performance based on biological variation to help clinical laboratories realize their own screening performance and set the appropriate performance specifications for prenatal screening risk assessment in China. Methods Fifteen samples with detailed clinical information were distributed to participants and the prenatal screening Down syndrome risk assessment of each sample were submitted. Three levels of performance specification (optimum, desirable, minimum) derived from biological variation were used to evaluate laboratory prenatal screening risk assessment performance. Results A total of 797 laboratories participated in the survey project. There are 216 laboratories using serological double-marker test and 581 laboratories using serological triple-marker test. For each screening protocol, more than 92.00% laboratories meet minimum performance specifications, more than 84.00% laboratories meet desirable performance specifications, and only about 62.50%laboratories meet optimum performance specifications. The Feltz and Miller test indicated that there were no significant statistical differences in the RCV for double-marker screening in 5 platforms and triple-marker screening in 6 platforms. Conclusions The risk assessment of prenatal screening in the second trimester in China can be improved further. It is appropriate to choose desirable performance specifications for external quality assurance organizations to evaluate the risk assessment performance.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43616941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-18DOI: 10.1515/labmed-2022-0085
M. Menacho-Román, Salma Ouriach, Ignacio Arribas
Abstract Objectives Quality control measurements are a keystone in daily routine laboratory workflows. This study evaluated the use of a consolidated quality control material for increasing efficiency while also reducing costs. Methods Quality control materials from two different manufacturers were chosen to evaluate efficiency in a test setting. A total of 23 clinical chemistry tests and 15 immunoassays were performed twice each day under routine conditions over a 10-day time period using an Abbott Alinity system. Results The data obtained showed a saving of between 40 and 100% depending on test criteria. The cost savings in waste reduction ranges between a factor of 5.4 for dead volume to 19.8 for consumables. No difference in quality performance were found. Conclusions Choosing a consolidated quality control material resulted in a higher efficiency, greater cost savings and higher sustainability while maintaining the same level of performance.
{"title":"Consolidation of quality control material improves patient safety and supports sustainability","authors":"M. Menacho-Román, Salma Ouriach, Ignacio Arribas","doi":"10.1515/labmed-2022-0085","DOIUrl":"https://doi.org/10.1515/labmed-2022-0085","url":null,"abstract":"Abstract Objectives Quality control measurements are a keystone in daily routine laboratory workflows. This study evaluated the use of a consolidated quality control material for increasing efficiency while also reducing costs. Methods Quality control materials from two different manufacturers were chosen to evaluate efficiency in a test setting. A total of 23 clinical chemistry tests and 15 immunoassays were performed twice each day under routine conditions over a 10-day time period using an Abbott Alinity system. Results The data obtained showed a saving of between 40 and 100% depending on test criteria. The cost savings in waste reduction ranges between a factor of 5.4 for dead volume to 19.8 for consumables. No difference in quality performance were found. Conclusions Choosing a consolidated quality control material resulted in a higher efficiency, greater cost savings and higher sustainability while maintaining the same level of performance.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47601267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-17DOI: 10.1515/labmed-2022-0073
Y. Katayama, Ryosei Murai, Yuki Sato, M. Moriai, Shinya Nirasawa, Masachika Saeki, Yuki Yakuwa, Y. Fujiya, K. Kuronuma, Satoshi Takahashi
Abstract Objectives Various reagents and equipment for testing SARS-CoV-2 infections have been developed, particularly rapid molecular tests based on polymerase chain reaction (PCR). Methods We evaluated the analytical performance of four rapid molecular tests for SARS-CoV-2. We used 56 nasopharyngeal swabs from patients with confirmed SARS-CoV-2 infection; 36 diagnosed as positive by the Ampdirect™ 2019-nCoV Detection Kit (Shimadzu assay) were considered as true-positive samples. Results The sensitivity of Cobas® Liat SARS-CoV-2 and Flu A/B (Cobas) was the highest among the four molecular test kits. The limit of detection was 1.49 × 10−2 copies/µL (95% confidence interval [CI]: 1.46×10−2−1.51 × 10−2 copies/µL) for Cobas; 1.43 × 10−1 copies/µL (95% CI: 8.01×10−3−2.78 × 10−1 copies/µL) for Xpert® Xpress SARS-CoV-2 test (Xpert); 2.00 × 10−1 copies/µL (95% CI: 1.95×10−1-2.05 × 10−1 copies/µL) for FilmArray Respiratory Panel v2.1 (FilmArray); and 3.33 × 10 copies/µL (95% CI: 1.93 × 10–4.72×10 copies/µL) for Smart Gene® SARS-CoV-2 (Smart gene). Cobas also had a high sensitivity (100%) compared with Shimadzu assay. The sensitivities of Xpert, FilmArray, and Smart Gene were 97.2%, 97.2%, and 75.0%, respectively. The specificity of all tests was 100%. Conclusions In conclusion, the four rapid SARS-CoV-2 molecular test kits have high specificity and sensitivity for detecting SARS-CoV-2. As they are easy to use, they could be a useful method for detecting SARS-CoV-2.
{"title":"Analytical performance of four rapid molecular testing for SARS-CoV-2","authors":"Y. Katayama, Ryosei Murai, Yuki Sato, M. Moriai, Shinya Nirasawa, Masachika Saeki, Yuki Yakuwa, Y. Fujiya, K. Kuronuma, Satoshi Takahashi","doi":"10.1515/labmed-2022-0073","DOIUrl":"https://doi.org/10.1515/labmed-2022-0073","url":null,"abstract":"Abstract Objectives Various reagents and equipment for testing SARS-CoV-2 infections have been developed, particularly rapid molecular tests based on polymerase chain reaction (PCR). Methods We evaluated the analytical performance of four rapid molecular tests for SARS-CoV-2. We used 56 nasopharyngeal swabs from patients with confirmed SARS-CoV-2 infection; 36 diagnosed as positive by the Ampdirect™ 2019-nCoV Detection Kit (Shimadzu assay) were considered as true-positive samples. Results The sensitivity of Cobas® Liat SARS-CoV-2 and Flu A/B (Cobas) was the highest among the four molecular test kits. The limit of detection was 1.49 × 10−2 copies/µL (95% confidence interval [CI]: 1.46×10−2−1.51 × 10−2 copies/µL) for Cobas; 1.43 × 10−1 copies/µL (95% CI: 8.01×10−3−2.78 × 10−1 copies/µL) for Xpert® Xpress SARS-CoV-2 test (Xpert); 2.00 × 10−1 copies/µL (95% CI: 1.95×10−1-2.05 × 10−1 copies/µL) for FilmArray Respiratory Panel v2.1 (FilmArray); and 3.33 × 10 copies/µL (95% CI: 1.93 × 10–4.72×10 copies/µL) for Smart Gene® SARS-CoV-2 (Smart gene). Cobas also had a high sensitivity (100%) compared with Shimadzu assay. The sensitivities of Xpert, FilmArray, and Smart Gene were 97.2%, 97.2%, and 75.0%, respectively. The specificity of all tests was 100%. Conclusions In conclusion, the four rapid SARS-CoV-2 molecular test kits have high specificity and sensitivity for detecting SARS-CoV-2. As they are easy to use, they could be a useful method for detecting SARS-CoV-2.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-11-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46379346","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-15DOI: 10.1515/labmed-2021-0176
E. Menekşe, M. E. Duz, B. Avci, Alpaslan Ozturk, Mustafa Durmaz
Abstract Objectives The effectiveness of the Luer-Lok™ Access Device (LL) with the intravenous catheter (IVC) on sample rejections, which is used to prevent primarily hemolysis in the emergency department (ED), clinics, and intensive care units (ICU), was examined. Methods A total of 491.850 samples of eight months from Amasya University Sabuncuoğlu Şerefeddin Training and Research Hospital were investigated retrospectively. Inpatient, intensive care unit and emergency department samples were included in the study. Pre- (BLL) and post-Luer Lok (ALL) rejection of the samples analyzed. In the BLL period, 3,463 rejection samples out of 253,818 (1.36%) in the September-December period of 2020; in the ALL period, 1819 rejected samples from 238,032 (0.76%) in January-April 2021 were analyzed for all reasons. Results It was determined that the use of LL significantly reduced all-cause sample rejections. In addition, a significant decrease was observed in the rates of hemolysis and clot-related rejection thanks to LL. Conclusions According to our study data, in patients with IVC with the LL device, the pressure brought by the syringe is mainly avoided, and reliable blood collection is achieved, similar to the routine vacutainer blood collection apparatus, and hemolysis- and clot-related sample rejections are largely prevented.
{"title":"Results of using Luer-Lok access device for clinics, intensive care units, and emergency services with high pre-analytical errors: analysis of 491.850 samples","authors":"E. Menekşe, M. E. Duz, B. Avci, Alpaslan Ozturk, Mustafa Durmaz","doi":"10.1515/labmed-2021-0176","DOIUrl":"https://doi.org/10.1515/labmed-2021-0176","url":null,"abstract":"Abstract Objectives The effectiveness of the Luer-Lok™ Access Device (LL) with the intravenous catheter (IVC) on sample rejections, which is used to prevent primarily hemolysis in the emergency department (ED), clinics, and intensive care units (ICU), was examined. Methods A total of 491.850 samples of eight months from Amasya University Sabuncuoğlu Şerefeddin Training and Research Hospital were investigated retrospectively. Inpatient, intensive care unit and emergency department samples were included in the study. Pre- (BLL) and post-Luer Lok (ALL) rejection of the samples analyzed. In the BLL period, 3,463 rejection samples out of 253,818 (1.36%) in the September-December period of 2020; in the ALL period, 1819 rejected samples from 238,032 (0.76%) in January-April 2021 were analyzed for all reasons. Results It was determined that the use of LL significantly reduced all-cause sample rejections. In addition, a significant decrease was observed in the rates of hemolysis and clot-related rejection thanks to LL. Conclusions According to our study data, in patients with IVC with the LL device, the pressure brought by the syringe is mainly avoided, and reliable blood collection is achieved, similar to the routine vacutainer blood collection apparatus, and hemolysis- and clot-related sample rejections are largely prevented.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42084913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-14DOI: 10.1515/labmed-2022-0044
A. Bozkurt, Mehmet Gürbüzel, İ. Sayar, Soner Baydeniz, Y. Arslan
Abstract Objectives Free DNA is used as a cancer biomarker due to its low cost, high applicability, and fast, reliable results compared to invasive methods. This study aimed to evaluate the quantification of plasma-free DNA after long-term storage conditions and perform qualification through single nucleotide polymorphism (SNP) screening based on this DNA. Methods Plasma-free DNA samples were quickly isolated from the peripheral blood of both the benign prostatic hyperplasia (BPH) and control group participants and then maintained at −80 °C for four years. Upon thawing, first, free DNA was purified and fluorometric measurements were taken to determine the amount of DNA. Subsequently, the rs6983267, rs12628, and rs1799939 SNPs were screened in the CCAT2, HRAS, and RET genes, respectively. Results Significant results were obtained from the fluorometric measurements in terms of single-stranded DNA (ssDNA) (p<0.001). However, there was no significant difference in SNPs rs6983267, rs12628, and rs1799939 in the BPH group compared to the healthy individuals. Conclusions The data show that fluorometric ssDNA measurements are suitable for quantifying free DNA. The fact that SNP screening can be done successfully in both healthy people and BPH patients suggests that plasma-free DNA can be stored in the laboratory under appropriate conditions.
{"title":"Qualification and quantification of plasma cell-free DNA after long-term storage conditions in patients with benign prostatic hyperplasia (BPH): a pilot study","authors":"A. Bozkurt, Mehmet Gürbüzel, İ. Sayar, Soner Baydeniz, Y. Arslan","doi":"10.1515/labmed-2022-0044","DOIUrl":"https://doi.org/10.1515/labmed-2022-0044","url":null,"abstract":"Abstract Objectives Free DNA is used as a cancer biomarker due to its low cost, high applicability, and fast, reliable results compared to invasive methods. This study aimed to evaluate the quantification of plasma-free DNA after long-term storage conditions and perform qualification through single nucleotide polymorphism (SNP) screening based on this DNA. Methods Plasma-free DNA samples were quickly isolated from the peripheral blood of both the benign prostatic hyperplasia (BPH) and control group participants and then maintained at −80 °C for four years. Upon thawing, first, free DNA was purified and fluorometric measurements were taken to determine the amount of DNA. Subsequently, the rs6983267, rs12628, and rs1799939 SNPs were screened in the CCAT2, HRAS, and RET genes, respectively. Results Significant results were obtained from the fluorometric measurements in terms of single-stranded DNA (ssDNA) (p<0.001). However, there was no significant difference in SNPs rs6983267, rs12628, and rs1799939 in the BPH group compared to the healthy individuals. Conclusions The data show that fluorometric ssDNA measurements are suitable for quantifying free DNA. The fact that SNP screening can be done successfully in both healthy people and BPH patients suggests that plasma-free DNA can be stored in the laboratory under appropriate conditions.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44495498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-11-03DOI: 10.1515/labmed-2022-0061
Lifang Wu, Q. Du
Abstract Objectives Deficiency of calcium and vitamin D is a common finding in postmenopausal osteoporosis (PMOP). However, the effect of cigarette smoking on the serum levels of calcium and 25-hydroxyvitamin D [25(OH)D] remains inconclusive. Methods The data of 432 inpatients with PMOP between January 2016 and October 2019 were collected from the hospital information system of the Second Hospital of Shanxi Medical University. The associations between smoking habits and serum calcium and 25(OH)D levels were analyzed by multiple linear regression. The intensity and duration of smoking were also conducted in the analysis to detect the dose-dependent effect of cigarette smoking. Results Significant differences were found between smokers and never smokers regarding serum calcium and 25(OH)D levels. The multiple linear regression model showed significant negative associations of the daily number of cigarette smoking and the smoking durations with the serum calcium and 25(OH)D levels. Moreover, the effect of smoking on the decreased levels of serum calcium and 25(OH)D showed a dose-dependent manner. Conclusions Cigarette smoking was negatively associated with the serum calcium and 25(OH)D levels in patients with PMOP. Early detection of serum calcium and 25(OH)D may contribute to predicting fracture risk, and smoking cessation intervention is necessary for patients with POMP.
{"title":"The effect of cigarette smoking on the serum levels of calcium and 25 hydroxy vitamin D in patients with postmenopausal osteoporosis","authors":"Lifang Wu, Q. Du","doi":"10.1515/labmed-2022-0061","DOIUrl":"https://doi.org/10.1515/labmed-2022-0061","url":null,"abstract":"Abstract Objectives Deficiency of calcium and vitamin D is a common finding in postmenopausal osteoporosis (PMOP). However, the effect of cigarette smoking on the serum levels of calcium and 25-hydroxyvitamin D [25(OH)D] remains inconclusive. Methods The data of 432 inpatients with PMOP between January 2016 and October 2019 were collected from the hospital information system of the Second Hospital of Shanxi Medical University. The associations between smoking habits and serum calcium and 25(OH)D levels were analyzed by multiple linear regression. The intensity and duration of smoking were also conducted in the analysis to detect the dose-dependent effect of cigarette smoking. Results Significant differences were found between smokers and never smokers regarding serum calcium and 25(OH)D levels. The multiple linear regression model showed significant negative associations of the daily number of cigarette smoking and the smoking durations with the serum calcium and 25(OH)D levels. Moreover, the effect of smoking on the decreased levels of serum calcium and 25(OH)D showed a dose-dependent manner. Conclusions Cigarette smoking was negatively associated with the serum calcium and 25(OH)D levels in patients with PMOP. Early detection of serum calcium and 25(OH)D may contribute to predicting fracture risk, and smoking cessation intervention is necessary for patients with POMP.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41280137","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-21DOI: 10.1515/labmed-2021-0191
Wenqian Song, Nan Xiao, Shihang Zhou, Weijian Yu, Ni Wang, L. Shao, X. Liang
Abstract Objectives To assess the efficacy of a mini-STR-based next-generation sequencing (NGS) method for non-invasive prenatal paternity testing (NIPPT). Methods Plasma DNA from 28 pregnant women was extracted and cell-free foetal DNA (cffDNA) genotyping was performed at 23 mini-STR loci using the Illumina NextSeq 500 system. For each mini-STR locus, the cffDNA genotype was validated by determining infant DNA genotype. The mini-STR loci with high concordance rates were selected for the comparison of STR genotyping results between cffDNA and biological father DNA or random male DNA for each family. Results The biological relationship was identified between alleged fathers and infants in all 28 families using the capillary electrophoresis (CE) method. Moreover, the concordance rates of STR genotypes D5S818, D19S253, and D21S1270 were less than 50% in 23 autosomal STR loci. The STR genotype matching probability was calculated using 20 STR loci with more than 60% concordance rate. There was a significant difference in the STR genotype matching probability between cffDNA and the DNA from the biological father (75–100%) or from random males (25–70%) (p<0.0001). Conclusions Our study demonstrated that mini-STR can be used for NGS-based NIPPT. Furthermore, this method can be used for crime control purposes using the STR data available from the national forensic DNA databases.
{"title":"Non-invasive prenatal paternity testing using mini-STR-based next-generation sequencing: a pilot study","authors":"Wenqian Song, Nan Xiao, Shihang Zhou, Weijian Yu, Ni Wang, L. Shao, X. Liang","doi":"10.1515/labmed-2021-0191","DOIUrl":"https://doi.org/10.1515/labmed-2021-0191","url":null,"abstract":"Abstract Objectives To assess the efficacy of a mini-STR-based next-generation sequencing (NGS) method for non-invasive prenatal paternity testing (NIPPT). Methods Plasma DNA from 28 pregnant women was extracted and cell-free foetal DNA (cffDNA) genotyping was performed at 23 mini-STR loci using the Illumina NextSeq 500 system. For each mini-STR locus, the cffDNA genotype was validated by determining infant DNA genotype. The mini-STR loci with high concordance rates were selected for the comparison of STR genotyping results between cffDNA and biological father DNA or random male DNA for each family. Results The biological relationship was identified between alleged fathers and infants in all 28 families using the capillary electrophoresis (CE) method. Moreover, the concordance rates of STR genotypes D5S818, D19S253, and D21S1270 were less than 50% in 23 autosomal STR loci. The STR genotype matching probability was calculated using 20 STR loci with more than 60% concordance rate. There was a significant difference in the STR genotype matching probability between cffDNA and the DNA from the biological father (75–100%) or from random males (25–70%) (p<0.0001). Conclusions Our study demonstrated that mini-STR can be used for NGS-based NIPPT. Furthermore, this method can be used for crime control purposes using the STR data available from the national forensic DNA databases.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45528096","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-12DOI: 10.1515/labmed-2022-0042
R. Dolscheid-Pommerich, B. Stoffel‐Wagner, Madlen Reinicke, F. Stellaard, D. Lütjohann, L. Eichhorn
Abstract Objectives Apnea diving is characterized by extreme hypoxia and hypercapnia. Possible pathophysiological processes concerning the cardiovascular system are not yet fully understood. Hypoxia has effects on triglyceride metabolism and circulating blood lipids. To date, in voluntary apnea divers, no short-time hypoxia expositions focusing on plasma triglycerides, lipoprotein and cholesterol derived oxysterols levels have been performed. We hypothesize that short time hypoxemia leads to altered triglyceride, cholesterol, and oxysterol plasma levels in voluntary apnea divers. Methods Ten athletes performed apnea under dry conditions in a horizontal position. Plasma levels of lipids, lipoproteins and oxysterols were determined with turbidimetric immunoassays, gas chromatography (GC) - flame ionization detection (FID) and GC-MS-SIM before apnea, immediately after apnea and 0.5 h after apnea. All sterols and oxysterols were corrected for GC-FID cholesterol as measured in the same sample. Spearman’s rank correlation test was performed and pairwise comparison of absolute and cholesterol corrected plasma levels from the different sampling dates was conducted using a robust mixed linear model. Results We observed significantly reduced levels of apolipoprotein B, triglycerides, cholesterol, high-density lipoprotein (HDL)-cholesterol, low-density lipoprotein (LDL)-cholesterol, and oxysterols (7β-OHC, 24-OHC, 27-OHC and 7-KC) for different time points. Cholesterol corrected plasma levels of the oxysterols showed no significant changes after short post-apnea time except for a significant elevation of the cholestane-3β, 5α, 6β-triol ratio. Conclusions We could observe that a single short time hypoxemia under dry conditions in voluntary apnea divers leads to altered triglyceride, cholesterol and oxysterol plasma levels.
{"title":"The effect of short post-apnea time on plasma triglycerides, lipoprotein and cholesterol derived oxysterols levels","authors":"R. Dolscheid-Pommerich, B. Stoffel‐Wagner, Madlen Reinicke, F. Stellaard, D. Lütjohann, L. Eichhorn","doi":"10.1515/labmed-2022-0042","DOIUrl":"https://doi.org/10.1515/labmed-2022-0042","url":null,"abstract":"Abstract Objectives Apnea diving is characterized by extreme hypoxia and hypercapnia. Possible pathophysiological processes concerning the cardiovascular system are not yet fully understood. Hypoxia has effects on triglyceride metabolism and circulating blood lipids. To date, in voluntary apnea divers, no short-time hypoxia expositions focusing on plasma triglycerides, lipoprotein and cholesterol derived oxysterols levels have been performed. We hypothesize that short time hypoxemia leads to altered triglyceride, cholesterol, and oxysterol plasma levels in voluntary apnea divers. Methods Ten athletes performed apnea under dry conditions in a horizontal position. Plasma levels of lipids, lipoproteins and oxysterols were determined with turbidimetric immunoassays, gas chromatography (GC) - flame ionization detection (FID) and GC-MS-SIM before apnea, immediately after apnea and 0.5 h after apnea. All sterols and oxysterols were corrected for GC-FID cholesterol as measured in the same sample. Spearman’s rank correlation test was performed and pairwise comparison of absolute and cholesterol corrected plasma levels from the different sampling dates was conducted using a robust mixed linear model. Results We observed significantly reduced levels of apolipoprotein B, triglycerides, cholesterol, high-density lipoprotein (HDL)-cholesterol, low-density lipoprotein (LDL)-cholesterol, and oxysterols (7β-OHC, 24-OHC, 27-OHC and 7-KC) for different time points. Cholesterol corrected plasma levels of the oxysterols showed no significant changes after short post-apnea time except for a significant elevation of the cholestane-3β, 5α, 6β-triol ratio. Conclusions We could observe that a single short time hypoxemia under dry conditions in voluntary apnea divers leads to altered triglyceride, cholesterol and oxysterol plasma levels.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48158324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-09-12DOI: 10.1515/labmed-2022-0089
Xiang-you Zhao, Guoqing Zhang, S. Dong, R. Yao, Niu Li, Tingting Yu, F. Bei, Jian Wang
Abstract Objectives Glycine decarboxylase gene (GLDC) mutations cause nonketotic hyperglycinemia (NKH). Patients of NKH usually have heterogeneous phenotypes including respiratory failure, lethargy, myoclonic jerks, and hypotonia. The excessive glycine accumulation in brain is a crucial pathogenic mechanism. Methods We performed a clinical phenotypic analysis of two Chinese patients and conducted whole exome sequencing to detect possible pathogenic genes. Transcriptional experiments were carried out to evaluate the impact of GLDC c.862-2A>G on GLDC transcript splicing. Results GLDC variants were identified in both patients who mainly presented with hypotonia, apnea, and lethargy patient 1 had compound heterozygous variants, which were c.334+5G>C and c.862-2A>G, while patient 2 had c.862-2A>G and c.2098C>G (p.P700A) in GLDC. Transcriptional experiments of GLDC c.862-2A>G revealed the presence of aberrant transcripts leading to truncated protein products. Conclusions Both patients were diagnosed with neonatal NKH. Two novel splice-site variations in GLDC, c.334+5G>C and c.862-2A>G, were identified. The c.862-2A>G variation was found in both patients and was confirmed to affect the splicing of GLDC. Our study enriched our knowledge of the genotypic and the phenotypic spectrum of NKH.
{"title":"Novel GLDC variants causing nonketotic hyperglycinemia in Chinese patients","authors":"Xiang-you Zhao, Guoqing Zhang, S. Dong, R. Yao, Niu Li, Tingting Yu, F. Bei, Jian Wang","doi":"10.1515/labmed-2022-0089","DOIUrl":"https://doi.org/10.1515/labmed-2022-0089","url":null,"abstract":"Abstract Objectives Glycine decarboxylase gene (GLDC) mutations cause nonketotic hyperglycinemia (NKH). Patients of NKH usually have heterogeneous phenotypes including respiratory failure, lethargy, myoclonic jerks, and hypotonia. The excessive glycine accumulation in brain is a crucial pathogenic mechanism. Methods We performed a clinical phenotypic analysis of two Chinese patients and conducted whole exome sequencing to detect possible pathogenic genes. Transcriptional experiments were carried out to evaluate the impact of GLDC c.862-2A>G on GLDC transcript splicing. Results GLDC variants were identified in both patients who mainly presented with hypotonia, apnea, and lethargy patient 1 had compound heterozygous variants, which were c.334+5G>C and c.862-2A>G, while patient 2 had c.862-2A>G and c.2098C>G (p.P700A) in GLDC. Transcriptional experiments of GLDC c.862-2A>G revealed the presence of aberrant transcripts leading to truncated protein products. Conclusions Both patients were diagnosed with neonatal NKH. Two novel splice-site variations in GLDC, c.334+5G>C and c.862-2A>G, were identified. The c.862-2A>G variation was found in both patients and was confirmed to affect the splicing of GLDC. Our study enriched our knowledge of the genotypic and the phenotypic spectrum of NKH.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43639400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-08-17DOI: 10.1515/labmed-2022-0078
Christian Thiemann, Britta Klitzke, Philipp Martinetz, Philipp Grüning, Thomas Käster, E. Barth, Jan Kramer, T. Martinetz
Abstract Objectives The reliable evaluation of immunofixation electrophoresis is part of the laboratory diagnosis of multiple myeloma. Until now, this has been done routinely by the subjective assessment of a qualified laboratory staff member. The possibility of subjective errors and relatively high costs with long staff retention are the challenges of this approach commonly used today. Methods Deep Convolutional Neural Networks are applied to the assessment of immunofixation images. In addition to standard monoclonal gammopathies (IgA-Kappa, IgA-Lambda, IgG-Kappa, IgG-Lambda, IgM-Kappa, and IgM-Lambda), also bi- or oligoclonal gammopathies, free chain gammopathies, non-pathological cases, and cases with no clear finding are detected. The assignment to one of these 10 classes comes with a confidence value. Results On a test data set with over 4,000 images, approximately 25% of the cases are sorted out as inconclusive or due to low confidence for subsequent manual evaluation. On the remaining 75%, about 3,000 cases, not even one is classified as falsely positive, and only one as falsely negative. The remaining few deviations of the automated assessment from the classifications assigned manually by experts are borderline cases or can be explained otherwise. As a software running on a standard desktop computer, the Deep Convolutional Neural Network needs less than a second for the assessment of an immunofixation image. Conclusions Assisting the laboratory expert in the assessment of immunofixation images can be a useful addition to laboratory diagnostics. However, the decision-making authority should always remain with the physician responsible for the findings.
{"title":"Automated assessment of immunofixations with deep neural networks","authors":"Christian Thiemann, Britta Klitzke, Philipp Martinetz, Philipp Grüning, Thomas Käster, E. Barth, Jan Kramer, T. Martinetz","doi":"10.1515/labmed-2022-0078","DOIUrl":"https://doi.org/10.1515/labmed-2022-0078","url":null,"abstract":"Abstract Objectives The reliable evaluation of immunofixation electrophoresis is part of the laboratory diagnosis of multiple myeloma. Until now, this has been done routinely by the subjective assessment of a qualified laboratory staff member. The possibility of subjective errors and relatively high costs with long staff retention are the challenges of this approach commonly used today. Methods Deep Convolutional Neural Networks are applied to the assessment of immunofixation images. In addition to standard monoclonal gammopathies (IgA-Kappa, IgA-Lambda, IgG-Kappa, IgG-Lambda, IgM-Kappa, and IgM-Lambda), also bi- or oligoclonal gammopathies, free chain gammopathies, non-pathological cases, and cases with no clear finding are detected. The assignment to one of these 10 classes comes with a confidence value. Results On a test data set with over 4,000 images, approximately 25% of the cases are sorted out as inconclusive or due to low confidence for subsequent manual evaluation. On the remaining 75%, about 3,000 cases, not even one is classified as falsely positive, and only one as falsely negative. The remaining few deviations of the automated assessment from the classifications assigned manually by experts are borderline cases or can be explained otherwise. As a software running on a standard desktop computer, the Deep Convolutional Neural Network needs less than a second for the assessment of an immunofixation image. Conclusions Assisting the laboratory expert in the assessment of immunofixation images can be a useful addition to laboratory diagnostics. However, the decision-making authority should always remain with the physician responsible for the findings.","PeriodicalId":55986,"journal":{"name":"Journal of Laboratory Medicine","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2022-08-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47448440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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