Clinical Chemistry and Laboratory Medicine (CCLM)最新文献

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Performance of four regression frameworks with varying precision profiles in simulated reference material commutability assessment 四种不同精度分布的回归框架在模拟参考物质可交换性评估中的性能
Clinical Chemistry and Laboratory Medicine (CCLM) Pub Date : 2022-06-01 DOI: 10.1515/cclm-2022-0205
C. Markus, Rui Zhen Tan, Chun Yee Lim, W. Rankin, S. Matthews, T. P. Loh, W. Hague
{"title":"Performance of four regression frameworks with varying precision profiles in simulated reference material commutability assessment","authors":"C. Markus, Rui Zhen Tan, Chun Yee Lim, W. Rankin, S. Matthews, T. P. Loh, W. Hague","doi":"10.1515/cclm-2022-0205","DOIUrl":"https://doi.org/10.1515/cclm-2022-0205","url":null,"abstract":"Abstract Objectives One approach to assessing reference material (RM) commutability and agreement with clinical samples (CS) is to use ordinary least squares or Deming regression with prediction intervals. This approach assumes constant variance that may not be fulfilled by the measurement procedures. Flexible regression frameworks which relax this assumption, such as quantile regression or generalized additive models for location, scale, and shape (GAMLSS), have recently been implemented, which can model the changing variance with measurand concentration. Methods We simulated four imprecision profiles, ranging from simple constant variance to complex mixtures of constant and proportional variance, and examined the effects on commutability assessment outcomes with above four regression frameworks and varying the number of CS, data transformations and RM location relative to CS concentration. Regression framework performance was determined by the proportion of false rejections of commutability from prediction intervals or centiles across relative RM concentrations and was compared with the expected nominal probability coverage. Results In simple variance profiles (constant or proportional variance), Deming regression, without or with logarithmic transformation respectively, is the most efficient approach. In mixed variance profiles, GAMLSS with smoothing techniques are more appropriate, with consideration given to increasing the number of CS and the relative location of RM. In the case where analytical coefficients of variation profiles are U-shaped, even the more flexible regression frameworks may not be entirely suitable. Conclusions In commutability assessments, variance profiles of measurement procedures and location of RM in respect to clinical sample concentration significantly influence the false rejection rate of commutability.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86664536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
A comparison of the faecal haemoglobin concentrations and diagnostic accuracy in patients suspected with colorectal cancer and serious bowel disease as reported on four different faecal immunochemical test systems 四种不同的粪便免疫化学测试系统对疑似结直肠癌和严重肠道疾病患者的粪便血红蛋白浓度和诊断准确性的比较
Clinical Chemistry and Laboratory Medicine (CCLM) Pub Date : 2022-06-01 DOI: 10.1515/cclm-2021-1248
S. Benton, C. Piggott, Z. Zahoor, S. O’Driscoll, C. Fraser, N. D’Souza, Michelle M. Chen, T. Georgiou Delisle, M. Abulafi
{"title":"A comparison of the faecal haemoglobin concentrations and diagnostic accuracy in patients suspected with colorectal cancer and serious bowel disease as reported on four different faecal immunochemical test systems","authors":"S. Benton, C. Piggott, Z. Zahoor, S. O’Driscoll, C. Fraser, N. D’Souza, Michelle M. Chen, T. Georgiou Delisle, M. Abulafi","doi":"10.1515/cclm-2021-1248","DOIUrl":"https://doi.org/10.1515/cclm-2021-1248","url":null,"abstract":"Abstract Objectives Faecal immunochemical tests for haemoglobin (FIT) are used in colorectal cancer (CRC) screening programmes and to triage patients presenting with symptoms suggestive of CRC for further bowel investigations. There are a number of quantitative FIT analytical systems available. Currently, there is no harmonisation or standardisation of FIT methods. The aim of the study was to assess the comparability of numerical faecal haemoglobin concentrations (f-Hb) obtained with four quantitative FIT systems and the diagnostic accuracy at different f-Hb thresholds. Methods A subgroup of the National Institute for Health and Care Excellence (NICE) FIT study, a multicentre, prospective diagnostic accuracy study were sent four FIT specimen collection devices from four different FIT systems or two FIT devices for one FIT system. Faecal samples were examined and analysis of results carried out to assess difference between methods at thresholds of limit of detection (LoD), 10 µg haemoglobin/g faeces (µg/g) and 100 μg/g. Results 233 patients returned specimen collection devices for examination on four different systems; 189 patients returned two FIT kits for one system. At a threshold of 100 μg/g the sensitivity is the same for all methods. At lower thresholds of LoD and 10 μg/g differences were observed between systems in terms of patients who would be referred and diagnostic accuracies. Conclusions The lack of standardisation or harmonisation of FIT means that differences are observed in f-Hb generated on different systems. Further work is required to understand the clinical impact of these differences and to minimise them.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74109671","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 6
Evaluation of a pneumatic tube system carrier prototype with fixing mechanism allowing for automated unloading 带固定机构的气动管道系统载体原型的评估,允许自动卸载
Clinical Chemistry and Laboratory Medicine (CCLM) Pub Date : 2022-05-31 DOI: 10.1515/cclm-2022-0193
Cora M. Märtens, Juliane Schöpfel, S. Bollmann, A. Hannemann, S. Zylla, M. B. Dahl, Friederike Gauß, Josef Schedl, M. Nauck, A. Petersmann
{"title":"Evaluation of a pneumatic tube system carrier prototype with fixing mechanism allowing for automated unloading","authors":"Cora M. Märtens, Juliane Schöpfel, S. Bollmann, A. Hannemann, S. Zylla, M. B. Dahl, Friederike Gauß, Josef Schedl, M. Nauck, A. Petersmann","doi":"10.1515/cclm-2022-0193","DOIUrl":"https://doi.org/10.1515/cclm-2022-0193","url":null,"abstract":"Abstract Objectives A carrier prototype by Aerocom® (Schwäbisch Gmünd, Germany) for pneumatic tube systems (PTS) is able to transport 9 blood tubes which are automatically fixed by closing the lid. In this study, we examined the influence of the transport on blood sample quality using the carrier prototype comparing to courier transport and a conventional carrier (AD160, Aerocom®). Methods Triplicate blood samples sets (1 lithium heparin, 1 EDTA, 1 sodium citrate) of 35 probands were split among the transportation methods: 1. courier, 2. conventional carrier, and 3. carrier prototype. After transport 51 measurands from clinical chemistry, hematology and coagulation were measured and compared. Results Overall, 49 of the investigated 51 measurands showed a good concordance among the three transport types, especially between the conventional carrier and the carrier prototype. Focusing on well-known hemolysis sensitive measurands, potassium showed no statistically significant differences. However, between courier and both carrier types lactate dehydrogenase (LDH) and free hemoglobin (fHb) showed statistically significant shifts, whereas the clinical impact of the identified differences was neglectable. The median concentration of fHb, for example, was 0.29 g/L (18 µmol/L), 0.31 g/L (19 µmol/L) and 0.32 g/L (20 µmol/L) for courier transport, conventional carrier and carrier prototype, respectively. These differences cannot be resolved analytically since the minimal difference (MD) for fHb is 0.052 g/L (3.23 µmol/L), at this concentration. Conclusions The carrier prototype by Aerocom® is suitable for transportation of diagnostic blood samples. The overall workflow is improved by decreasing hands-on-time on the ward and laboratory while minimizing the risk of incorrectly packed carriers.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86578948","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Circulating cell-free DNA undergoes significant decline in yield after prolonged storage time in both plasma and purified form 循环无细胞DNA在血浆和纯化形式中经过长时间的储存后产量显著下降
Clinical Chemistry and Laboratory Medicine (CCLM) Pub Date : 2022-05-31 DOI: 10.1515/cclm-2021-1152
N. Yuwono, Mollie Ailie Acheson Boyd, C. Henry, Bonnita Werner, C. Ford, K. Warton
{"title":"Circulating cell-free DNA undergoes significant decline in yield after prolonged storage time in both plasma and purified form","authors":"N. Yuwono, Mollie Ailie Acheson Boyd, C. Henry, Bonnita Werner, C. Ford, K. Warton","doi":"10.1515/cclm-2021-1152","DOIUrl":"https://doi.org/10.1515/cclm-2021-1152","url":null,"abstract":"Abstract Objectives Circulating DNA (cirDNA) is generally purified from plasma that has been biobanked for variable lengths of time. In long-term experiments or clinical trials, the plasma can be stored frozen for up to several years. Therefore, it is crucial to determine the stability of cirDNA to ensure confidence in sample quality upon analysis. Our main objective was to determine the effect of storage for up to 2 years on cirDNA yield and fragmentation. Methods We stored frozen EDTA plasma and purified cirDNA from 10 healthy female donors, then quantified cirDNA yield at baseline, and at regular intervals for up to 2 years, by qPCR and Qubit. We also compared cirDNA levels in non-haemolysed and haemolysed blood samples after 16 months of storage and tested the effect of varying DNA extraction protocol parameters. Results Storage up to two years caused an annual cirDNA yield decline of 25.5% when stored as plasma and 23% when stored as purified DNA, with short fragments lost more rapidly than long fragments. Additionally, cirDNA yield was impacted by plasma input and cirDNA elution volumes, but not by haemolysis. Conclusions The design of long-term cirDNA-based studies and clinical trials should factor in the deterioration of cirDNA during storage.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"90085396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
The novelties of the regulation on health technology assessment, a key achievement for the European union health policies 卫生技术评估条例的新颖性,是欧盟卫生政策的一项重要成就
Clinical Chemistry and Laboratory Medicine (CCLM) Pub Date : 2022-05-30 DOI: 10.1515/cclm-2022-0228
A. Pisapia, G. Banfi, R. Tomaiuolo
{"title":"The novelties of the regulation on health technology assessment, a key achievement for the European union health policies","authors":"A. Pisapia, G. Banfi, R. Tomaiuolo","doi":"10.1515/cclm-2022-0228","DOIUrl":"https://doi.org/10.1515/cclm-2022-0228","url":null,"abstract":"Abstract Health technology assessment is a key tool for ensuring healthcare quality, accessibility, and sustainability. The novel European Union (EU) Health Technology Assessment (HTA) regulation of 15 December 2021, in harmonizing the laws of the Member States about the procedures and criteria for the evaluation of health technologies (i.e., medical devices and in vitro diagnostic tools), constitutes a significant achievement in the definition of EU health policies. On the one hand, for the European Union, it constitutes an essential driving force for the development of a competitive market for health technologies and, on the other, for European citizens, it guarantees the application of superordinate safety and quality standards with an impact positive on access to health technologies, including expressly also in vitro diagnostic medical devices classified in class D by art. 47 of Reg. (EU) 2017/746. As pointed out by the European Commissioner for Healthcare, the regulation identifies a new way for the Member States to cooperate on healthcare matters in the Union. The clinical efficacy and safety of drugs and devices are legal assets that today find their protection in a binding and directly applicable regulatory instrument, superordinate in the hierarchy of sources. Implementing the regulation will also be essential to achieve the objectives of the Union’s pharmaceutical strategy and the European plan to fight cancer. The novel HTA European regulation, applicable from January 2025, will ensure inclusion and transparency in evaluating health technologies and increase the predictability of decisions for both Member State authorities and industry.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86558606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Covert poisoning with difenacoum: diagnosis and follow-up difficulties 隐蔽性中毒的诊断及随访困难
Clinical Chemistry and Laboratory Medicine (CCLM) Pub Date : 2022-05-30 DOI: 10.1515/cclm-2022-0314
Kitel Caroline, Jaillette Emmanuelle, Zawadzki Christophe, Azzouz Ramy, Lenski Marie
{"title":"Covert poisoning with difenacoum: diagnosis and follow-up difficulties","authors":"Kitel Caroline, Jaillette Emmanuelle, Zawadzki Christophe, Azzouz Ramy, Lenski Marie","doi":"10.1515/cclm-2022-0314","DOIUrl":"https://doi.org/10.1515/cclm-2022-0314","url":null,"abstract":"","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"74903860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Machine learning-based system for prediction of ascites grades in patients with liver cirrhosis using laboratory and clinical data: design and implementation study 利用实验室和临床数据预测肝硬化患者腹水等级的基于机器学习的系统:设计和实施研究
Clinical Chemistry and Laboratory Medicine (CCLM) Pub Date : 2022-05-24 DOI: 10.1515/cclm-2022-0454
B. Hatami, F. Asadi, Azadeh Bayani, M. Zali, K. Kavousi
{"title":"Machine learning-based system for prediction of ascites grades in patients with liver cirrhosis using laboratory and clinical data: design and implementation study","authors":"B. Hatami, F. Asadi, Azadeh Bayani, M. Zali, K. Kavousi","doi":"10.1515/cclm-2022-0454","DOIUrl":"https://doi.org/10.1515/cclm-2022-0454","url":null,"abstract":"Abstract Objectives The aim of the study was to implement a non-invasive model to predict ascites grades among patients with cirrhosis. Methods In the present study, we used modern machine learning (ML) methods to develop a scoring system solely based on routine laboratory and clinical data to help physicians accurately diagnose and predict different degrees of ascites. We used ANACONDA3–5.2.0 64 bit, free and open-source platform distribution of Python programming language with numerous modules, packages, and rich libraries that provide various methods for classification problems. Through the 10-fold cross-validation, we employed three common learning models on our dataset, k-nearest neighbors (KNN), support vector machine (SVM), and neural network classification algorithms. Results According to the data received from the research institute, three types of data analysis have been performed. The algorithms used to predict ascites were KNN, cross-validation (CV), and multilayer perceptron neural networks (MLPNN), which achieved an average accuracy of 94, 91, and 90%, respectively. Also, in the average accuracy of the algorithms, KNN had the highest accuracy of 94%. Conclusions We applied well-known ML approaches to predict ascites. The findings showed a strong performance compared to the classical statistical approaches. This ML-based approach can help to avoid unnecessary risks and costs for patients with acute stages of the disease.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87325696","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
Fibrin strands in peripheral blood smear: the COVID-19 era 外周血涂片中的纤维蛋白链:COVID-19时代
Clinical Chemistry and Laboratory Medicine (CCLM) Pub Date : 2022-05-24 DOI: 10.1515/cclm-2022-0199
Sara Sousa, Cacilda Magalhães, Cristina Teixeira, Yuliana O. Eremina
{"title":"Fibrin strands in peripheral blood smear: the COVID-19 era","authors":"Sara Sousa, Cacilda Magalhães, Cristina Teixeira, Yuliana O. Eremina","doi":"10.1515/cclm-2022-0199","DOIUrl":"https://doi.org/10.1515/cclm-2022-0199","url":null,"abstract":"","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82404442","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Age and sex specific reference intervals of 13 hematological analytes in Chinese children and adolescents aged from 28 days up to 20 years: the PRINCE study 中国28天至20岁儿童和青少年13项血液学分析的年龄和性别特定参考区间:PRINCE研究
Clinical Chemistry and Laboratory Medicine (CCLM) Pub Date : 2022-05-24 DOI: 10.1515/cclm-2022-0304
Wenqi Song, R. Yan, M. Peng, Hong Jiang, Guixia Li, S. Cao, Yongmei Jiang, Zhen-xin Guo, Dapeng Chen, Hongling Yang, Jin Xu, Yong Chang, Yun Xiang, Min Zhao, Chenbin Li, Ying Shen, Fang Jin, Qiliang Li, Yan Wang, Yaguang Peng, Lixin Hu, Ying Liu, Xiaofei Zhang, Wenxian Chen, X. Peng, X. Ni
{"title":"Age and sex specific reference intervals of 13 hematological analytes in Chinese children and adolescents aged from 28 days up to 20 years: the PRINCE study","authors":"Wenqi Song, R. Yan, M. Peng, Hong Jiang, Guixia Li, S. Cao, Yongmei Jiang, Zhen-xin Guo, Dapeng Chen, Hongling Yang, Jin Xu, Yong Chang, Yun Xiang, Min Zhao, Chenbin Li, Ying Shen, Fang Jin, Qiliang Li, Yan Wang, Yaguang Peng, Lixin Hu, Ying Liu, Xiaofei Zhang, Wenxian Chen, X. Peng, X. Ni","doi":"10.1515/cclm-2022-0304","DOIUrl":"https://doi.org/10.1515/cclm-2022-0304","url":null,"abstract":"Abstract Objectives Pediatric Reference Intervals in China (PRINCE) is a nationwide initiative that aims to establish and validate harmonized reference intervals (RIs) for Chinese children and adolescents, in which 15,150 healthy volunteers aged up to 20 years were recruited from 11 centers to establish RIs and 7,557 children and adolescents were enrolled from 21 centers to validate RIs. Methods The complete blood cell counts (CBC) of venous whole blood were measured by hematology analyzers through Sysmex systems in different centers. Age- and sex-specific RIs were calculated according to the guidelines. Results Unlike adults with certain levels of analyte concentrations, hematological parameters of children changed through growth and development. Red blood cell counts, hemoglobin, and hematocrit increased with age, and revealed higher concentrations in boys than girls after puberty. White blood cell counts and platelet counts showed significant higher levels than adults before 2 years of age, and then gradually decreased without distinct sex differences. In addition, lymphocyte counts decreased with age while neutrophil counts showed an opposite trend. The lower and upper limits of pediatric RIs of CBC were different from those of adults. Conclusions The validation of RIs indicated that the PRINCE study provided a version of RIs suitable for most of regions in China. This first harmonized pediatric RIs of CBC across China provided a robust database to understand the dynamic changes of hematologic parameters from birth to adolescence, and will contribute to clinical diagnosis and prognosis evaluation for pediatric patients as well.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87427486","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 7
Validation of steroid ratios for random urine by mass spectrometry to detect 5α-reductase deficiency in Vietnamese children 用质谱法检测越南儿童5α-还原酶缺乏症的随机尿液类固醇比例验证
Clinical Chemistry and Laboratory Medicine (CCLM) Pub Date : 2022-05-24 DOI: 10.1515/cclm-2022-0272
Thin-Mai T Tran, Thị Ngọc Lam Trần, Hoang Bich Nga Le, Việt Hoa Nguyễn, M. Tran, C. Vu, R. Greaves
{"title":"Validation of steroid ratios for random urine by mass spectrometry to detect 5α-reductase deficiency in Vietnamese children","authors":"Thin-Mai T Tran, Thị Ngọc Lam Trần, Hoang Bich Nga Le, Việt Hoa Nguyễn, M. Tran, C. Vu, R. Greaves","doi":"10.1515/cclm-2022-0272","DOIUrl":"https://doi.org/10.1515/cclm-2022-0272","url":null,"abstract":"Abstract Objectives The 5α-reductase-type-2 deficiency (5ARD2) is a rare autosomal recessive 46,XY disorder of sex development caused by the mutated 5α-reductase type 2 (SRD5A2) gene. In this disease, defective conversion of testosterone to dihydrotestosterone leads to variable presentations of male ambiguous genitalia during fetal development. We aimed to examine characteristics of patients presenting with 5ARD2 over a 4 year period. Methods Random urine samples of control and patients with suspected 5ARD2 were collected and urine steroidomic metabolites were measured by Gas chromatography-mass spectrometry (GC-MS) in the period from 2017 to 2021 at National Children’s Hospital, Hanoi Vietnam. 5α- to 5β-reduced steroid metabolite ratio, 5a-tetrahydrocortisol to tetrahydrocortisol (5α-THF/THF), was reviewed by receive operator characteristics (ROC) curve analysis. Molecular testing was offered to 25 patients who were diagnosed with 5ARD2 by GC-MS urinary steroid analysis. Results Urine steroidomic profiling was conducted for 104 male controls and 25 patients between the ages of 6 months and 13 years old. Twelve of the twenty-five 5ARD2 patients agreed to undertake genetic analysis, and two mutations of the SRD5A2 gene were detected in each patient, confirming the diagnosis. All patients showed a characteristically low ratio of 5α-THF/THF. There was no overlap of 5α-THF/THF ratio values between control and 5ARD2 groups. The ROC of 5α-THF/THF ratio at 0.19 showed 100% sensitivity and 100% specificity for boys between 6 months and 13 years of age. Conclusions Analysis of the urine steroid metabolome by GC-MS can be used to assist in the diagnosis of 5ARD2. We recommend consideration of random urine steroid analysis as a first-line test in the diagnosis of 5ARD2.","PeriodicalId":10388,"journal":{"name":"Clinical Chemistry and Laboratory Medicine (CCLM)","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87943705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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