{"title":"The frequency of JAK2 V617F mutation and its association with low EPO levels in polycythemia vera patients.","authors":"Recai Aci, Adem Keskin, Özlem Sezer, Taner Karakaya, Samet Semiz, Halit Kızılet","doi":"10.1080/00365513.2025.2502945","DOIUrl":"10.1080/00365513.2025.2502945","url":null,"abstract":"<p><p>Myeloid cell overgrowth in polycythemia vera (PV) is identified by a clonal disorder. The mutation in the Janus tyrosine kinase 2 (JAK2) gene known as V617F has been demonstrated to be responsible for the molecular development of the illness. This study investigates how frequently the JAK2 V617F mutation occurs and its association with erythropoietin (EPO) and hematological parameters in PV patients. Two hundred and forty-five patients who presented to the genetic outpatient clinic with a prediagnosis of PV were included in this study. Blood samples from all patients were screened for the G-T point mutation (V617F) in the JAK2 gene on chromosome 9 by allele-specific polymerase chain reaction (PCR). In addition, EPO levels, biochemical and hematological parameters of the patients were analyzed. JAK-2 mutation was detected in 28.9% (71) of patients diagnosed with PV. The mean age of the JAK2 V617F positive group was 64.09 ± 13.66 years, negative group was 66.62 ± 16.60 years. No statistically significant difference was found between the groups in terms of age and gender. When laboratory parameters were analyzed, ferritin, Fe, MCV, MCH, MCHC and EPO values were found to be lower in the JAK2 V617F positive group compared to the negative group, while RBC, RDW, MPV, PLT, HGB and UIBC values were found to be higher. The main observation of the study was that the JAK2 V617F mutation was present in 71 out of 215 PV patients (28.98%), confirming the observation of lower EPO levels in PV patients, and the results of the study are in close agreement with previous studies.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"259-262"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996153","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}
{"title":"The effect of common blood sampling types on metabolic screening.","authors":"Ceylan Bal, Esra Özyurt, Gülsen Yılmaz","doi":"10.1080/00365513.2025.2490936","DOIUrl":"10.1080/00365513.2025.2490936","url":null,"abstract":"<p><p>Capillary blood is often used for dried blood spot samples in metabolic screening tests. This study's objective is to examine the amino acid and acylcarnitine levels in the commonly used sampling types from the same subjects and compare the findings with capillary whole blood samples as the reference. Thirty adult patipicants' blood samples were collected into four different tubes: citrated tubes, serum separating tubes, heparin tubes, and EDTA tubes, respectively and additionally into the syringe. 50 μL blood from each tube and syringe was absorbed onto filter papers. Additionally, capillary whole blood taken from each person's fingertip was absorbed onto the filter paper. All measurements were performed with flow-injection analysis tandem mass spectrometry. In the pairwise comparison of fingertip group and other groups, almost all results were different from the reference group (<i>p</i> < 0.05), except for glutamine and methionine for amino acid analysis. The difference in acylcarnitine levels is not as obvious as in amino acid levels. If other sampling types are used for metabolic screening instead of capillary whole blood, it may lead to low results, especially in amino acid measurements. Additionally, cut-off values should be interpreted, taking into consideration the sampling type, and laboratories should be informed about the sampling type used.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":"85 3","pages":"196-201"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144006355","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}
Laura Pighi, Davide Negrini, Marco Tosi, Giuseppe Lippi
{"title":"Performance assessment of ChatGPT in classification of urine particles.","authors":"Laura Pighi, Davide Negrini, Marco Tosi, Giuseppe Lippi","doi":"10.1080/00365513.2025.2496265","DOIUrl":"https://doi.org/10.1080/00365513.2025.2496265","url":null,"abstract":"","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":"85 3","pages":"223-227"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043885","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}
{"title":"Comparison of serum antinuclear antibodies in Guillain-Barré syndrome and chronic inflammatory demyelinating polyradiculoneuropathy: a retrospective case-control study.","authors":"Yu Tu, Xuan Gong, Jiewei Peng, Peipei Zhu, Wenyan Zhuo, Xueying Yu","doi":"10.1080/00365513.2025.2496267","DOIUrl":"10.1080/00365513.2025.2496267","url":null,"abstract":"<p><p>Serum antinuclear antibodies (ANAs) facilitate the diagnosis and evaluation of patients with many systemic autoimmune conditions. However, there are no systematic reports concerning differences in Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). Therefore, we assessed the differences in serum ANAs in GBS and CIDP patients and control subjects in a Chinese cohort. A retrospective enrollment of 417 patients was conducted for this study, consisting of 158 clinically confirmed GBS patients, 115 CIDP patients, and 144 non-GBS and CIDP inpatients as a control group. The measurement of serum ANAs, including autoantibodies against the Ro52 protein (anti-Ro52 antibody), anti-Sjogren's-syndrome-related antigen A antibodies (anti-SSA), anti-mitochondrial antibody M2 (AMA-M2), etc., was performed on all enrolled patients. Additionally, erythrocyte sedimentation rate (ESR), anti-streptolysin O (ASO), and C-reactive protein (CRP) values were also assessed. The results revealed significantly higher positive rates of Anti-Ro52 antibody, AMA-M2, and Anti-SSA antibody in the GBS group compared to the CIDP and control groups (<i>adjusted p < 0.001</i>). In the GBS group, Anti-Ro52 and AMA-M2 antibody positivity was moderate to severe, while anti-SSA antibody positivity was mild. In the GBS group, the most common finding for a serum ANAs burden score was 3 (58, 36.71%), which was higher than the CIDP group where a score of 1 was the most common finding (14, 12.17%). Anti-Ro52 antibodies, anti-SSA antibodies, and AMA-M2 were closely associated with GBS. Differential positivity of serum ANAs in GBS and CIDP patients was proposed to provide a reference for clinical diagnosis and treatment methods.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"242-247"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144044424","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}
{"title":"A novel modification approach for the one sample Kolmogorov-Smirnov test in large sample size.","authors":"Ugurcan Sayili, Mehmet Guven Gunver","doi":"10.1080/00365513.2025.2512384","DOIUrl":"10.1080/00365513.2025.2512384","url":null,"abstract":"<p><p>This study aims to propose and evaluate a modified version of the One-Sample Kolmogorov-Smirnov (K-S) test that addresses its current limitations in large sample groups, with the goal of improving its accuracy and reliability in assessing normality assumptions in medical research data. In addition to the classical K-S test, a logarithmic modification was applied to reduce the impact of sample size. This modification replaces the sample size in the test calculation with a logarithmic formula (ln n<sup>2</sup>) to prevent z-values from becoming excessively small in large samples. Statistical analyses were conducted using Microsoft 365/Excel, SPSS 21.0 and STATA/MP18 with a geometric approach employed to assess data normality using the Geometric Approach to Normality Testing. The study analyzed real-world laboratory data obtained from the complete blood count (CBC) results of 122,310 adult patients (aged ≥18 years) who were treated at Cerrahpaşa Medical Faculty Hospital throughout 2022. The modified K-S test with the proposed logarithmic modification (ln n<sup>2</sup>) reduced the tendency to reject normality solely due to large sample size. The modified test was able to confirm that some hematological parameters did indeed fit normal distribution models, while discriminating those that did not. In particular, analysis of the data set trimmed by 0.5% showed further improvement in test performance. Consequently, the proposed modification is shown to provide a more sensitive method for assessing the assumption of normal distribution in large data sets. The method can be easily integrated into existing statistical software, making it accessible for routine use in large-scale data analysis.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"287-298"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235041","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}
Jennifer Anton, Charlotte S Larsen, Majken Gudmundsson, Lasse K Bak
{"title":"The effects of storage conditions on the stability of salivary melatonin in synthetic fiber swabs for home sampling.","authors":"Jennifer Anton, Charlotte S Larsen, Majken Gudmundsson, Lasse K Bak","doi":"10.1080/00365513.2025.2487987","DOIUrl":"10.1080/00365513.2025.2487987","url":null,"abstract":"<p><p>Home sampling of saliva is noninvasive, easy, and convenient, especially for multiple sampling. Such samples are therefore appropriate for the measurement of melatonin, a biomarker for circadian dysregulation. However, home sampling is restricted by access to appropriate storage conditions. This study, therefore, evaluated the effect of common storage conditions on the stability of melatonin in synthetic fiber swabs employed for home sampling. Saliva was provided by healthy volunteers during daytime, pooled and subsequently divided into fractions, each spiked with different amounts of melatonin. Synthetic fiber swabs were allowed to accumulate saliva from these fractions followed by storage at room temperature, 4 °C or -20 °C for 24, 48 or 72 h. The melatonin levels were analyzed employing a commercial ELISA assay. Differences in concentrations at each storage condition were evaluated with a two-way repeated measures ANOVA followed by a Tukey multiple comparison test. Samples were significantly more stable at -20 °C compared to room temperature and 4 °C, irrespective of the storage duration. However, no significant decrease from baseline was observed for samples stored at either 4 °C or -20 °C after 72 h. In comparison, a significant decrease was observed at room temperature after just 24 h. In conclusion, storage at -20 °C may be considered the gold standard for synthetic fiber swabs for quantification of salivary melatonin. However, storage at 4 °C ensures stability for 72 h while also ensuring convenience for home sampling. It is therefore our recommendation that such home samples are refrigerated, transported cold and centrifuged within 72 h of collection.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":"85 3","pages":"180-183"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996072","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}
{"title":"Increased serum anti-angiogenic factor levels in insulin-resistant obese children and adolescents with or without liver steatosis (NAFL).","authors":"Samed Emre Darılmaz, Melike Zeynep Tugrul Aksakal, Gozde Ceylan, Canan Kucukgergin, Aylin Yetim Sahin, Seldag Bekpinar","doi":"10.1080/00365513.2025.2502947","DOIUrl":"10.1080/00365513.2025.2502947","url":null,"abstract":"<p><p>This study aimed to investigate the effect of obesity on angiogenesis and its relationship with liver steatosis in obese children and adolescents. The study ıncluded 81 obese ın chıldren and 30 healthy controls. Obese subjects were subdıvıded by ultrasound ınto three groups: no steatosıs, grade 1 lıver steatosıs (NAFL), and grade 2 NAFL. Obese individuals, regardless of the presence of NAFL, exhibited significant insulin resistance (<i>p</i> < .01) compared to their lean counterparts. All obese subjects showed elevated serum ALT, wıth a sıgnıfıcantly greater ın those wıth NAFL. Marked dyslipidemia by decreased high-density lipoprotein (HDL) levels and elevated triglycerides, was observed in obese individuals with NAFL. The serum levels of angiopoietin-1 (Ang-1) and vascular endothelial growth factor-165b (VEGF165b) were measured as anti-angiogenic markers, while vascular endothelial growth factor-A (VEGF-A), fibroblast growth factor-2 (FGF-2) and P-selectin were assessed as pro-angiogenic factors. Compared to normal-weight children (5558 ± 674 pg/mL), Ang-1 levels were significantly elevated in all obese subgroups (8861 ± 1026; 8105 ± 615; 7388 ± 924, respectıvely). However, no significant differences in Ang-1 levels were observed among the obese subgroups. Ang-1 and VEGF165b levels were significantly higher in insulin-resistant individuals (7575 ± 747 pg/mL and 293 ± 44.4 pg/mL, respectively) compared to insulin-sensitive subjects (6143 ± 557 pg/mL and 179 ± 31.4 pg/mL, respectively). These findings suggest that insulin resistance in obese children is associated with altered angiogenic signaling. However, no significant differences in the serum levels of angiogenic factors were observed between obese groups with and without NAFL.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"263-268"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144080071","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}
Josefine B H Adelhelm, Charlotte S Jørgensen, Heidi B Hansen, Stine B Østertoft, Mads Nybo, Louise H Jørgensen
{"title":"Validation of cobas<sup>®</sup> pulse point-of-care testing device for blood glucose monitoring.","authors":"Josefine B H Adelhelm, Charlotte S Jørgensen, Heidi B Hansen, Stine B Østertoft, Mads Nybo, Louise H Jørgensen","doi":"10.1080/00365513.2025.2512382","DOIUrl":"10.1080/00365513.2025.2512382","url":null,"abstract":"<p><p>The aim of this study was to validate the blood glucose point-of-care system, cobas<sup>®</sup> pulse (Roche Diagnostics GmbH), which is the successor to the Accu-Chek<sup>®</sup> Inform II system (Roche Diagnostics GmbH). Since the cobas<sup>®</sup> pulse device is intended to replace an existing device from the same manufacturer, we found it highly relevant to perform an industry-independent validation regarding accuracy and comparability with existing glucose measurement systems. From 40 randomly selected, non-fasting adults capillary and venous blood was drawn simultaneously. Correlation and agreement was evaluated by comparing capillary blood glucose on cobas<sup>®</sup> pulse to plasma glucose on cobas<sup>®</sup> 8000 (Roche Diagnostics GmbH) and capillary blood glucose on ABL800 Flex (Radiometer, Denmark), respectively. The cobas<sup>®</sup> pulse generally showed good agreement with both comparison methods, although the agreement between cobas<sup>®</sup> pulse and ABL800 Flex was better (bias -0.01 mmol/L) than between cobas<sup>®</sup> pulse and cobas<sup>®</sup> 8000 (bias 0.61 mmol/L). Differences between measurements of low blood glucose levels (range 0.5 to 4.8 mmol/L) and higher blood glucose levels (range 9.7 to 15.3 mmol/L) when comparing cobas<sup>®</sup> pulse to ABL800 Flex was also within allowable limits. Altogether, the validation study demonstrated a clinically satisfactory performance of the cobas<sup>®</sup> pulse point-of-care device.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"275-280"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144187857","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}
Bent Kristensen, Marc Ø Nielsen, Arlinda Ljoki, Bo Zerahn, Lars T Jensen
{"title":"Exploratory method comparison analysis with emphasis on graphical illustrations.","authors":"Bent Kristensen, Marc Ø Nielsen, Arlinda Ljoki, Bo Zerahn, Lars T Jensen","doi":"10.1080/00365513.2025.2494259","DOIUrl":"10.1080/00365513.2025.2494259","url":null,"abstract":"<p><p><b>Objectives:</b> To develop and present simple visual and descriptive summary measures of agreement in method comparison studies with replicated measurements and to discuss detection of drift in method comparison studies. Summary measures may serve as an exploratory data analysis guiding further agreement and decision analysis of two methods using the Bland and Altman method and mixed-effects modeling. <b>Materials and methods:</b> The methodological approach is illustrated using freely available clinical datasets from two published method comparison studies with repeated measurements on each subject. <b>Results:</b> With the use of ellipses and a numerical ideality index as summary measures for each subject with paired measurements from two clinical methods, it is possible to quickly decode a dataset's intra- and interindividual variation, differential and proportional bias, possible drift, and the number of measured subjects in clinically relevant areas for the two methods. <b>Conclusion:</b> Simple and intuitive exploratory method comparison analysis can be performed and interpreted even for relatively large datasets prior to more advanced statistical analysis of method comparisons using data with replicated measurements.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":"85 3","pages":"202-213"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009380","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}
David Lyse Overgaard, Tina Parkner, Josefine Jul Jarbæk Nielsen, Henning Andersen, Cindy Soendersoe Knudsen
{"title":"Impact of preanalytical factors on the stability of acetylcholine receptor antibodies in serum.","authors":"David Lyse Overgaard, Tina Parkner, Josefine Jul Jarbæk Nielsen, Henning Andersen, Cindy Soendersoe Knudsen","doi":"10.1080/00365513.2025.2500011","DOIUrl":"10.1080/00365513.2025.2500011","url":null,"abstract":"<p><p>This study investigated the preanalytical stability of acetylcholine receptor antibodies (AChRAb) in patient samples, a crucial biomarker for diagnosing Myasthenia Gravis (MG). The objective was to evaluate the impact of delayed centrifugation, storage temperature, and repeated freeze-thaw cycles on the accuracy of AChRAb test results. Blood samples were collected from nine MG patients, and four stability studies were conducted. These studies examined: (I) the effect of delayed centrifugation on whole blood (up to 7 h at room temperature), (II) storage of serum at room temperature (up to 7 days), (III) storage of serum at -20 °C (up to 26 weeks), and (IV) the impact on serum of repeated freeze-thaw cycles (up to 3 cycles). AChRAb levels were measured using ELISA, and the results were analysed for statistical variation against baseline measurements using bias limits of ±15%. The findings revealed that AChRAb remained stable for up to 7 hours of delayed centrifugation, 5 days at room temperature, 13 weeks at -20 °C, and after 3 freeze-thaw cycles. However, the antibody levels showed instability after 7 days at room temperature and 26 weeks at -20 °C, where the percentage differences exceeded acceptable limits. Analytical variation, especially at low antibody levels, and differences between ELISA kit lots were potential factors contributing to these findings. In conclusion, AChRAb shows good stability if care is taken to avoid prolonged storage and handling times to maintain diagnostic accuracy.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"308-312"},"PeriodicalIF":1.3,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028066","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}