Practical Laboratory Medicine最新文献

{"title":"Genetic study of the CDKN2A and CDKN2B genes in renal cell carcinoma patients","authors":"Nattaradee Kiatprungvech ,&nbsp;Premsant Sangkum ,&nbsp;Rozita Malinee ,&nbsp;Suchada Sommaluan ,&nbsp;Veerawat Korkiatsakul ,&nbsp;Suchin Worawichawong ,&nbsp;Budsaba Rerkamnuaychoke ,&nbsp;Adcharee Kongruang ,&nbsp;Suraida Aeesoa ,&nbsp;Panuwat Lertsithichai ,&nbsp;Kittinut Kijvikai ,&nbsp;Wisoot Kongchareonsombat ,&nbsp;Teerapong Siriboonpiputtana","doi":"10.1016/j.plabm.2024.e00410","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00410","url":null,"abstract":"<div><h3>Objectives</h3><p>While recent studies have demonstrated several genetic alterations are associated with pathogenesis of RCC, the significance of cyclin-dependent kinase inhibitor 2A <em>(CDKN2A)</em> and cyclin-dependent kinase inhibitor 2B <em>(CDKN2B)</em> in tumorigenesis of RCC is less clear. We investigate the distribution of <em>CDKN2A</em> and <em>CDKN2B</em> mutations in patients with RCC and analyze the impact of <em>CDKN2A</em> and <em>CDKN2B</em> mutations on RCC.</p></div><div><h3>Methods</h3><p>A pathological examination was conducted using thirty fresh renal tissue samples with renal masses that had undergone partial or radical nephrectomy. Multiplex ligation-dependent probe amplification (MLPA) was used to detect genetic aberrations of <em>CDKN2A</em> and <em>CDKN2B</em> in genomic DNA isolated from samples. Subsequently, <em>CDKN2A</em> and <em>CDKN2B</em> mutations were confirmed using chromosomal microarray technique.</p></div><div><h3>Results</h3><p>Twenty-one patients were diagnosed with RCC, eight with benign diseases, including angiomyolipoma (AML) and oncocytoma, and one with mucinous adenocarcinoma of renal pelvis. Two of twenty-one patients (9.5 %) with clear-cell RCC were positive for <em>CDKN2A</em> and <em>CDKN2B</em> gene deletions. Interestingly, patients with <em>CDKN2A</em> and <em>CDKN2B</em> mutations were associated with sarcomatoid patterns of RCC (2 out of 4, 50 %). In contrast, no <em>CDKN2A</em> or <em>CDKN2B</em> deletions were detected in samples from benign renal tumors, papillary RCC, or other kidney cancers.</p></div><div><h3>Conclusions</h3><p>This study demonstrated the potential use of <em>CDKN2A</em> and <em>CDKN2B</em> as biomarkers for the prognostic and molecular classification of renal cancer. <em>CDKN2A</em> and <em>CDKN2B</em> mutations may be associated with RCC development and sarcomatoid changes. Further research is needed to understand the underlying molecular mechanisms of <em>CDKN2A</em> and <em>CDKN2B</em> in the pathogenesis of RCC.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"40 ","pages":"Article e00410"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000568/pdfft?md5=249646e4fe2ff3861b7952c26d5e0ef3&pid=1-s2.0-S2352551724000568-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141239117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detection of CDH1 gene promoter hypermethylation in gastric cancer and chronic gastritis","authors":"Mitra Bayat ,&nbsp;Amir Shirgir ,&nbsp;Arash Kazemi Veisari ,&nbsp;Rouhallah Najjar Sadeghi","doi":"10.1016/j.plabm.2024.e00406","DOIUrl":"10.1016/j.plabm.2024.e00406","url":null,"abstract":"<div><h3>Aim</h3><p>The current study aimed to assess the frequency of <em>CDH1</em> promoter gene hypermethylation in gastric cancer and chronic gastritis and its correlation with clinicopathological aspects.</p></div><div><h3>Methods</h3><p>Methylation-specific PCR was used to detect CDH1 promoter gene hypermethylation in 53 chronic gastritis patients and 40 gastric cancer patients along with normal adjacent tissues.</p></div><div><h3>Results</h3><p>The chronic gastritis group comprised 29 males and 24 females with a mean age of 51.8 ± 12.96 years, and 49.1 % of them were positive for H. pylori infection. The frequency of <em>CDH1</em> hypermethylation in gastritis lesions was 18.8 %. <em>CDH1</em> hypermethylation showed a significant correlation with H. pylori infection (p = 0.039), but no significant association was observed with other clinical features. The gastric cancer group consisted of individuals with a mean age of 65.4 ± 10.6, among them, 77.5 % were male and 22.5 % were female, 62.5 % had PT3 tumors, 40 % had PN1 lymph node involvement, and the majority (47.5 %) of samples were obtained from body segment. <em>CDH1</em> hypermethylation was significantly associated with depth of invasion (p = 0.017) and nodal invasion (p = 0.041) in this group. In both groups, normal adjacent specimens lacked CDH1 hypermethylation, and there was no statistically significant correlation between CDH1 hypermethylation and age at which the tumor was diagnosed, gender, activity level, or tumor location.</p></div><div><h3>Conclusion</h3><p>This study demonstrates that E-cadherin methylation is associated with some characteristics of chronic gastritis and gastric cancer. These findings support previous research indicating that CDH1 hypermethylation may play a significant role in the development of gastric cancer.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"40 ","pages":"Article e00406"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000520/pdfft?md5=8c6ac4ad32e9fc2fa93d69467d9c5744&pid=1-s2.0-S2352551724000520-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141140015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The US FDA's proposed rule on laboratory-developed tests: Impacts on clinical laboratory testing","authors":"Leslie Smith ,&nbsp;Lisa A. Carricaburu ,&nbsp;Jonathan R. Genzen","doi":"10.1016/j.plabm.2024.e00407","DOIUrl":"10.1016/j.plabm.2024.e00407","url":null,"abstract":"<div><h3>Objectives</h3><p>To solicit quantifiable feedback from clinical laboratorians on the U.S. Food and Drug Administration (FDA) proposed rule to regulate laboratory-developed tests (LDTs) as medical devices.</p></div><div><h3>Design and Methods</h3><p>A ten-item questionnaire was developed and submitted to clinical laboratory customers of ARUP Laboratories, a national nonprofit clinical laboratory of the University of Utah Department of Pathology.</p></div><div><h3>Results</h3><p>Of 503 clinical laboratory respondents, only 41 (8 %) support the FDA's proposed rule. 67 % of respondents work in laboratories that perform LDTs and were therefore asked additional questions regarding the proposed rule. 84 % of these respondents believe that the proposed rule will negatively impact their laboratories, while only 3 % believe that they have the financial resources to pay for FDA user fees. 61 % of respondents anticipate removing tests from their laboratory menus if the proposed rule is enacted, while an additional 33 % indicated that they do not yet know. Only 11 % of respondents believe that they would pursue FDA submissions for all of their existing LDTs if the final rule is enacted. The vast majority of respondents (&gt;80 %) were either ‘extremely concerned’ or ‘very concerned’ about the impact of the proposed rule on patient access to essential testing, financial and personnel resources to comply, innovation, the FDA's ability to implement the rule, and send-out costs and test prices.</p></div><div><h3>Conclusions</h3><p>The majority of clinical laboratorians surveyed do not support the FDA's proposed rule on LDTs and report having insufficient resources to comply with the rule if it is enacted.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"40 ","pages":"Article e00407"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000532/pdfft?md5=bc55bcefd759e5695d2abc8c336ddfb6&pid=1-s2.0-S2352551724000532-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141130914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the diagnostic performance of an immunochromatographic test for Chlamydia trachomatis","authors":"Shu-Lian Li ,&nbsp;Hui-Ling Lin ,&nbsp;Hong-Fei Mi ,&nbsp;Qing-Qi Meng ,&nbsp;Ya Yan ,&nbsp;Xiao-Luo Zhang ,&nbsp;Wei-Ming Gu ,&nbsp;Yao Xiao","doi":"10.1016/j.plabm.2024.e00412","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00412","url":null,"abstract":"<div><h3>Objectives</h3><p>To evaluate the diagnostic performance of different brands of immunochromatographic test (ICT) reagents for <em>Chlamydia trachomatis</em> using homogenized samples to provide a reference for reagent quality control.</p></div><div><h3>Methods</h3><p>Eight commercially available ICT reagents were evaluated, of which three used the latex method and five used the colloidal gold method. Analytical performance evaluation using a pure culture broth of <em>C. trachomatis</em>, as well as clinical application validation using cervical epithelial cell samples acquired from the research subjects, were conducted. The concentration of <em>C. trachomatis</em> was quantified using a nucleic acid amplification test.</p></div><div><h3>Results</h3><p>The limit of detection (LOD) of different ICT reagents in the analytical performance evaluation varied from 9.5 × 10³ to 1 × 10⁵ IFU/mL, and only one reagent met the LOD specified in the manufacturer's instructions. Likewise, only one reagent in the clinical application validation achieved the analytical LOD, four reagents were 2.1–4.2-fold of the analytical LODs, and three reagents failed to detect positive results in clinical samples.</p></div><div><h3>Conclusions</h3><p>The diagnostic performance of different methods and different brands of ICT reagents in clinical practice was different from the manufacturer's instructions and the results of laboratory evaluation. The diagnostic performance of reagents should be evaluated before they are actually used in clinical practice.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"40 ","pages":"Article e00412"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000581/pdfft?md5=80e4a58215dd1f948a6dbedf49b565ca&pid=1-s2.0-S2352551724000581-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141239035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Management of refined and personalized newborn blood specimen collection","authors":"Hui-Bin Huang ,&nbsp;Yu-Bin Lin ,&nbsp;Jin-Hua Chen ,&nbsp;Min Zhu ,&nbsp;Li-Jin Chen ,&nbsp;Wang Ye ,&nbsp;Lin-Hua Luo ,&nbsp;Hui-ming Ye","doi":"10.1016/j.plabm.2024.e00408","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00408","url":null,"abstract":"<div><h3>Background</h3><p>Iatrogenic blood loss is an important cause of neonatal anemia. In this study, a spreadsheet tool was developed to reduce blood collection, providing a new idea for the prevention of iatrogenic blood loss in newborns.</p></div><div><h3>Methods</h3><p>Based on hematocrit, minimum test volume and dead volume, a new tool was to calculate the minimum blood collection volume and the number of containers required for the test portfolio. We collected data from October 2022 to October 2023 from Xiamen Maternal and Child Health Hospital for analysis and validation.</p></div><div><h3>Results</h3><p>During this year, there were 16,434 patients and 13,696 plasma/serological samples in the neonatology department. Among them, there were 8 test combinations of greater than 1%, and 9490 samples in total. According to the hospital manual, the recommended amount of blood collection is 27,534 ml and 9490 containers. Through the analysis of this tool, total blood collection was 8864.77 ml, marked qnantity of upward containers (closest level to the calculated blood collection volume) was 10301 ml, and the amount of containers was 8835, which decreased by 67.8%, 62.58% and 6.9% respectively. Besides, if the hematocrit information cannot be obtained in advance and the high hematocrit is calculated as 0.8, the recommended amount of blood collection is 14334.3 ml, and the marked amount of the upward container markering is 17340 ml, decreasing by 47.9% and 37.02% respectively.</p></div><div><h3>Conclusion</h3><p>We have developed an auxiliary tool that can manage neonatal blood specimen collection in a fine and personalized way and can be applied among different laboratory instruments by parameters modification.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"40 ","pages":"Article e00408"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000544/pdfft?md5=a8b4c6a26fc621181e559c650bf3000f&pid=1-s2.0-S2352551724000544-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141239116","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Performance evaluation of influenza a rapid antigen test and PCR among nasopharyngeal and oropharyngeal samples","authors":"Xiaosong Su ,&nbsp;Jiaye Zhou ,&nbsp;Ling Liu ,&nbsp;Hongzhi Gao ,&nbsp;Yan Lin ,&nbsp;Zhile Wang ,&nbsp;Xin Zhang ,&nbsp;Baishen Pan ,&nbsp;Beili Wang ,&nbsp;Chunyan Zhang ,&nbsp;Wei Guo","doi":"10.1016/j.plabm.2024.e00416","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00416","url":null,"abstract":"<div><h3>Objectives</h3><p>Rapid antigen test (RAT) and polymerase chain reaction (PCR) using nasopharyngeal (NP) or oropharyngeal (OP) swab specimens are the two main testing techniques used for laboratory diagnosis of influenza in clinical practice. However, performance variations have been observed not only between techniques, but also between different specimens. This study evaluated the differences in performance between specimens and testing techniques to identify the best combination in clinical practice.</p></div><div><h3>Methods</h3><p>Both NP and OP samples from suspected influenza patients collected in the 2023/4–2023/5 Flu-season in Xiamen, China, were tested for RAT and quantitative PCR. The testing performance of the different specimens and testing techniques were recorded and evaluated.</p></div><div><h3>Results</h3><p>Compared to PCR, RAT showed 58.9 % and 10.3 % sensitivity for NP and OP swabs, respectively. The Limit of Detection (LoD) was 28.71 the Median Tissue Culture Infectious Dose (TCID₅₀)/mL. Compared with PCR using NP swabs, PCR with OP swabs showed 89.5 % sensitivity and 95.4 % specificity.</p></div><div><h3>Conclusions</h3><p>There were no significant differences in performance between the specimens when PCR was used to test for influenza. However, a decrease in sensitivity was observed when the RAT was used, regardless of the specimen type. Therefore, to avoid false-negative results, PCR may be a better choice when OP swabs are used as specimens. In contrast, NP swabs should be the recommended specimens for RAT.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"40 ","pages":"Article e00416"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000623/pdfft?md5=efeafd52dcb04891c8f51ab8d9ce74d1&pid=1-s2.0-S2352551724000623-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141323512","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enzymatic detection of α-hydroxybutyrate, an important marker of insulin resistance, and comparison with LC-MS/MS detection","authors":"Beate Steiner ,&nbsp;Christian Leitner ,&nbsp;David Stadler ,&nbsp;Eva-Maria Prugger ,&nbsp;Christoph Magnes ,&nbsp;Peter L. Herzog","doi":"10.1016/j.plabm.2024.e00398","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00398","url":null,"abstract":"<div><h3>Aim</h3><p>The metabolite α-hydroxybutyrate (α-HB) is an important marker of insulin resistance and impaired glucose tolerance allowing to identify patients at risk of developing diabetes and related metabolic disorders before any symptoms become apparent. At present, its exact quantification requires mass spectrometry (LC-MS), which is not compatible with routine laboratory use. Accordingly, a simple enzymatic-based method was assessed and its applicability and measuring accuracy compared with LC-MS was investigated.</p></div><div><h3>Methods</h3><p>Standards, serum, and plasma samples containing α-HB were prepared with routine procedures and their α-HB contents measured with the XpressGT® enzymatic test kit photometrically or with LC-MS and multiple reaction monitoring.</p></div><div><h3>Results</h3><p>α-HB detection with XpressGT® yielded highly linear calibration curves and 102 % recovery of stocks added to commercial samples. Stability of the analyte in serum and plasma samples prepared with various anti-coagulants was &gt;90 % after 46 h for several widely used preparations and recovery after 3 freeze-thaw cycles was ≥95 % with these anti-coagulants. A direct comparison of 75 samples indicated very good agreement of α-HB levels determined by both methods, 86 % of XpressGT® samples being within ±20 % of LC-MS values and even 93 % within ±20 % considering only samples above 30 μM concentration.</p></div><div><h3>Conclusion</h3><p>XpressGT®-based detection of α-HB is an easily applicable method which can be used for accurate and reliable quantification of the metabolite in clinical practice. Routine α-HB determination in patients at risk of developing diabetes would allow early establishment of preventive measures or pharmacological intervention reducing the risk for the onset of serious diabetes-related health problems.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"40 ","pages":"Article e00398"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000441/pdfft?md5=f57563a55f17bbd1ce542cb6fe9fd18f&pid=1-s2.0-S2352551724000441-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140879997","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Seasonal variation of HbA1c levels in diabetic and non-diabetic patients","authors":"Sana Ahuja ,&nbsp;Sugandha Sugandha ,&nbsp;Rohit Kumar ,&nbsp;Sufian Zaheer ,&nbsp;Mukul Singh","doi":"10.1016/j.plabm.2024.e00396","DOIUrl":"10.1016/j.plabm.2024.e00396","url":null,"abstract":"<div><h3>Background</h3><p>Hemoglobin A1c (HbA1c) serves as a pivotal marker for long-term glycemic control. The Diabetes Control and Complications Trial (DCCT) established its relevance, yet gaps exist in understanding potential seasonal variations in HbA1c levels among diabetic patients. The study highlights the need to explore potential seasonal variations in HbA1c levels and their impact on diabetic patients.</p></div><div><h3>Materials and methods</h3><p>This is an observational study conducted in a tertiary care hospital from January to December 2019, the study analyzed HbA1c levels in 8138 patients. Blood samples were collected using Potassium EDTA-containing vials and processed with an automated analyzer. Seasonal variations were explored using time series analysis.</p></div><div><h3>Results</h3><p>Mean HbA1c levels peaked during the monsoon (June to September) and were lowest in autumn (October to November). Subgroup analysis revealed differences in patients with HbA1c values below and above 6.5 %. Those with controlled blood sugar showed higher levels in winter (December to February) and monsoon (June to September), while patients with HbA1c values ≥ 6.5 % exhibited significantly lower levels in monsoon (June to September) and autumn (October to November) compared to summer (March to May).</p></div><div><h3>Conclusion</h3><p>In contrast to global trends, Indian patients demonstrated distinct seasonal variations in HbA1c levels. The highest levels during the monsoon (June to September) may be linked to reduced outdoor activity and dietary changes. The study emphasizes the need for tailored diabetes management considering seasonal influences. Further extensive, longitudinal studies across diverse Indian regions are recommended to comprehensively grasp the impact of seasonal changes on diabetes outcomes.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"40 ","pages":"Article e00396"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000428/pdfft?md5=a43a21f9736fa93c86e41c9a472dd442&pid=1-s2.0-S2352551724000428-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140766439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"HPLC and flow cytometry combined approach for HbF analysis in fetomaternal haemorrhage evaluation","authors":"Benedetta Peruzzi ,&nbsp;Serena Guerrieri ,&nbsp;Tiziana Biagioli ,&nbsp;Luisa Lanzilao ,&nbsp;Sara Pratesi ,&nbsp;Sara Bencini ,&nbsp;Marinella Statello ,&nbsp;Alessia Carraresi ,&nbsp;Stefania Stefanelli ,&nbsp;Martina Tonelli ,&nbsp;Marco Brogi ,&nbsp;Manuela Capone ,&nbsp;Alessio Mazzoni ,&nbsp;Anna Maria Grazia Gelli ,&nbsp;Alessandra Fanelli ,&nbsp;Roberto Caporale ,&nbsp;Francesco Annunziato","doi":"10.1016/j.plabm.2024.e00401","DOIUrl":"10.1016/j.plabm.2024.e00401","url":null,"abstract":"<div><h3>Introduction</h3><p>Recently, a flow cytometric (FC) based test has been developed for detection of circulating fetal cells to replace the less accurate and reproducible Kleihauer-Betke test.</p><p>FC test is easier to perform, it can distinguish the origin of fetal cells, but it is expensive and available in highly specialized laboratories. We evaluated the introduction of high-performance liquid chromatography (HPLC) approach as initial screening to identify patients who need an additional FC test to better discriminate the nature of haemoglobin-F (HbF) positive cells.</p></div><div><h3>Methods</h3><p>Blood samples from 130 pregnant women suspected to have fetomaternal haemorrhage were analysed with HPLC and FC methods. The cut-off for HbF HPLC concentration was calculated. Statistical analyses for the evaluation of HPLC as a screening method were performed. The positivity cut-off of HbF to be used as decision-making value to continue the investigation was calculated.</p></div><div><h3>Results</h3><p>An excellent agreement (R² &gt; 0.90) was observed between the percentage of HbF obtained by HPLC and the percentage of fetal cells detected by FC. Results obtained from each assay were compared to define the HPLC threshold below which it is not necessary to continue the investigations, confirming the maternal nature of the HbF positive cells detected. Our study demonstrated that a cut-off of 1.0 % HbF obtained by HPLC was associated with the lowest rate of false negative results in our patient cohort.</p></div><div><h3>Conclusions</h3><p>This study provides a new FMH investigation approach that possibly leads to a reduction in times and costs of the analysis.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"40 ","pages":"Article e00401"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000477/pdfft?md5=8fe6e1a4d570fbec4024ab791d7c745f&pid=1-s2.0-S2352551724000477-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141039630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Italian external quality assessment program for Cystic Fibrosis sweat chloride test: CFTR modulators and the impact of a new sweat test report form","authors":"Natalia Cirilli ,&nbsp;Giovanna Floridia ,&nbsp;Annalisa Amato ,&nbsp;Rita Padoan ,&nbsp;Federica Censi ,&nbsp;Gianluca Ferrari ,&nbsp;Valeria Raia ,&nbsp;Giuseppe Castaldo ,&nbsp;Ettore Capoluongo ,&nbsp;Domenica Taruscio ,&nbsp;Marco Salvatore","doi":"10.1016/j.plabm.2024.e00403","DOIUrl":"https://doi.org/10.1016/j.plabm.2024.e00403","url":null,"abstract":"<div><h3>Background</h3><p>The advent of CFTR modulators highlighted that the sweat test (ST) for CF can be used also as an outcome measure for the basic defect of CFTR. Despite the technological advances, ST still remains operator-dependent and its execution should be strongly paired with guidelines. In 2022, due to the advent of CFTR modulators, the Italian CF Society introduced a specific ST report. The aim of the present paper is to discuss the impact of this new report in the 2022-23 round of the Italian External Quality Assessment program for ST (I-EQA-SCT).</p></div><div><h3>Methods</h3><p>The scheme of the I-EQA-SCT is prospective, enrolment is voluntary, the payment of a fee is required and results are shared through a web-facility. Assessment covers analysis, interpretation, and reporting of results. In the 2022-23 round, 2 out of the 3 mock clinical information referred to patients who started modulators.</p></div><div><h3>Results</h3><p>Fourteen laboratories completed the 2022-23 I-EQA-SCT round. Three of them failed in the interpretation of results from these two mock cases and/or used a wrong report not consistent with the more recent Italian Sweat Test Recommendations.</p></div><div><h3>Conclusions</h3><p>The overall results obtained from the laboratories involved in the I-EQA-SCT program clearly showed that the laboratories’ qualitative and quantitative performance improved significantly. Results emerged from this round highlighted an issue in the report form used for monitoring patients on CFTR modulator therapy thus stressing the importance of these programs in improving both the performance of lab services and ameliorating the sweat test recommendations.</p></div>","PeriodicalId":20421,"journal":{"name":"Practical Laboratory Medicine","volume":"40 ","pages":"Article e00403"},"PeriodicalIF":1.9,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352551724000490/pdfft?md5=0d971d899d8456940875725a0c6bb72f&pid=1-s2.0-S2352551724000490-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141083660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}