Scandinavian Journal of Clinical & Laboratory Investigation最新文献

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Renal elimination and eGFR prediction of proenkephalin. 脑啡肽的肾消除和eGFR预测。
IF 1.3 4区 医学
Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2025-06-10 DOI: 10.1080/00365513.2025.2512383
Johann Sigurjonsson, Ulf Nyman, Henrik Bjursten, David Grubb
{"title":"Renal elimination and eGFR prediction of proenkephalin.","authors":"Johann Sigurjonsson, Ulf Nyman, Henrik Bjursten, David Grubb","doi":"10.1080/00365513.2025.2512383","DOIUrl":"https://doi.org/10.1080/00365513.2025.2512383","url":null,"abstract":"<p><p>Proenkephalin (PENK) is assumed to be freely filtered by the glomerulus, thus potentially useful for estimating glomerular filtration rate (eGFR). Recently developed eGFR-equation based on PENK and creatinine has not been validated against existing cystatin C-based equations. This study aimed to test the hypothesis of free filtration of PENK. Also, the PENK-creatinine based eGFR-equation was validated against cystatin C. Plasma concentrations of PENK, creatinine and cystatin C were determined in arterial and renal venous blood samples collected from 70 patients undergoing transcatheter aortic valve implantation (TAVI). The renal elimination ratio (RER) of PENK (RER<sub>PENK</sub>) was calculated and compared to the RER of creatinine (RER<sub>crea</sub>). RER constitutes the single-pass renal elimination of a molecule, calculated as the arteriovenous concentration difference divided by the arterial concentration. For eGFR validations, the CAPA (cystatin C) and LMR (creatinine) equations were used. RER<sub>PENK</sub> (23.7 ± 9.6%) was approximately 10% higher than RER<sub>crea</sub> (21.4 ± 5.8%). The PENK-creatinine equation overestimated GFR by 26,1% on average, compared to the mean of the LMR and CAPA equations. The relationship between RER<sub>PENK</sub> and RER<sub>crea</sub> suggests free filtration and a slight degree of non-glomerular elimination of PENK. There was poor agreement between PENK and cystatin C derived eGFR-equations. PENK needs further evaluation as a predictor of GFR.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-6"},"PeriodicalIF":1.3,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267232","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}
引用次数: 0
Laboratory reference intervals - history and modern approaches for improved utility. 实验室参考间隔。改进效用的历史和现代方法。
IF 1.3 4区 医学
Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2025-06-05 DOI: 10.1080/00365513.2025.2512995
Tony Badrick, Joe M El-Khoury, Elvar Theodorsson
{"title":"Laboratory reference intervals - history and modern approaches for improved utility.","authors":"Tony Badrick, Joe M El-Khoury, Elvar Theodorsson","doi":"10.1080/00365513.2025.2512995","DOIUrl":"https://doi.org/10.1080/00365513.2025.2512995","url":null,"abstract":"<p><p>Diagnosing using laboratory results is commonly based on whether the concentration of a biomarker is outside of the reference limits following the currently dominating statistical decision theoretical approach. Such dichotomization disregards several crucial factors, including the uncertainty of the measurement result, how extreme the concentration of the biomarker is, the prevalence of the condition in the tested population, and the costs of false positives and false negatives. The history, properties, pros, and cons of reference intervals are discussed, including promising alternatives such as standard scores, percentiles, and likelihood ratios.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-13"},"PeriodicalIF":1.3,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235042","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}
引用次数: 0
A novel modification approach for the one sample Kolmogorov-Smirnov test in large sample size. 大样本量单样本Kolmogorov-Smirnov检验的一种新的修正方法。
IF 1.3 4区 医学
Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2025-06-05 DOI: 10.1080/00365513.2025.2512384
Ugurcan Sayili, Mehmet Guven Gunver
{"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":"https://doi.org/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":"1-12"},"PeriodicalIF":1.3,"publicationDate":"2025-06-05","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}
引用次数: 0
Comparison of total calprotectin levels with S100A8 and S100A9 subunit levels in critically ill patients. 危重患者总钙保护蛋白水平与S100A8和S100A9亚基水平的比较
IF 1.3 4区 医学
Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2025-06-02 DOI: 10.1080/00365513.2025.2512997
Kristina Sejersen, Aleksandra Mandic Havelka, Miklos Lipcsey, Anders Larsson
{"title":"Comparison of total calprotectin levels with S100A8 and S100A9 subunit levels in critically ill patients.","authors":"Kristina Sejersen, Aleksandra Mandic Havelka, Miklos Lipcsey, Anders Larsson","doi":"10.1080/00365513.2025.2512997","DOIUrl":"https://doi.org/10.1080/00365513.2025.2512997","url":null,"abstract":"<p><p>Calprotectin is a 24 kD heterodimer of calcium-binding proteins S100A8 and S100A9. At present, there is a lack of knowledge about the specificity of various methods for calprotectin detection, whether they measure only dimers between S100A8 and S100A9, S100A8-S100A8 dimers, S100A9/S100A9 dimers, or free subunits. This study aimed to compare total calprotectin levels with those of its subunits, S100A8 and S100A9, in ICU patients. This prospective observational study includes 271 sepsis and non-sepsis patients. Inclusion criteria were admission to intensive care and the presence or need for an arterial catheter. Plasma total calprotectin was measured at ICU admission and the following two days by particle-enhanced turbidimetric (PETIA) calprotectin reagents from Gentian AS and a Mindray BS380 chemistry analyzer. S100A8 and S100A9 were analyzed by commercial sandwich ELISA DY4570-05, and DY5578, R&D Systems, respectively. Sepsis was defined according to Sepsis-3 as suspected infection and a Sequential organ failure assessment (SOFA) >2 on admission. Receiver operating characteristic (ROC) analysis showed that total calprotectin had a larger area under the curve (AUC) for distinguishing sepsis from non-sepsis patients (0.67) compared to S100A8 (0.59) and S100A9 (0.52). For predicting 30-day mortality, S100A9 had a higher AUC value (0.64) than S100A8 (0.59). However, weak correlations between total calprotectin and its subunits suggest no significant predictive relationship for 30-day mortality, while also highlighting potential assay harmonization challenges across manufacturers.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-6"},"PeriodicalIF":1.3,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144209410","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}
引用次数: 0
Interference from haemolysis on serum protein electrophoresis in the identification and quantification of monoclonal immunoglobulins. 溶血对单克隆免疫球蛋白鉴定和定量中血清蛋白电泳的干扰。
IF 1.3 4区 医学
Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2025-06-02 DOI: 10.1080/00365513.2025.2511303
Anne-Birgitte Garm Blavnsfeldt, Anders Mønsted Abildgaard
{"title":"Interference from haemolysis on serum protein electrophoresis in the identification and quantification of monoclonal immunoglobulins.","authors":"Anne-Birgitte Garm Blavnsfeldt, Anders Mønsted Abildgaard","doi":"10.1080/00365513.2025.2511303","DOIUrl":"https://doi.org/10.1080/00365513.2025.2511303","url":null,"abstract":"","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-3"},"PeriodicalIF":1.3,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144209411","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}
引用次数: 0
Parathyroid hormone using second and third generation assays in patients with various stages of chronic kidney disease. 甲状旁腺激素使用第二代和第三代测定患者的不同阶段的慢性肾脏疾病。
IF 1.3 4区 医学
Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2025-05-31 DOI: 10.1080/00365513.2025.2512998
Ida Marie Nørum Wigh, Anne Kathrine Aagaard Thomsen, Jens Dam Jensen, Hanne Skou Jørgensen, Stine Linding Andersen
{"title":"Parathyroid hormone using second and third generation assays in patients with various stages of chronic kidney disease.","authors":"Ida Marie Nørum Wigh, Anne Kathrine Aagaard Thomsen, Jens Dam Jensen, Hanne Skou Jørgensen, Stine Linding Andersen","doi":"10.1080/00365513.2025.2512998","DOIUrl":"https://doi.org/10.1080/00365513.2025.2512998","url":null,"abstract":"<p><p>Mineral metabolism disturbances are common in chronic kidney disease (CKD) and parathyroid hormone (PTH) plays an important role in patient monitoring. Levels of PTH may vary with different biochemical assays, especially with kidney dysfunction, and more evidence is needed to substantiate the differences between second generation (2. gen) and third generation (3. gen) PTH immunoassays in this patient group. A cross-sectional study of 350 CKD patients (61% males) in the North Denmark Region. From April to September 2023, blood samples drawn for measurement of PTH as part of routine care in the Department of Nephrology, Aalborg University Hospital, were consecutively collected for measurement of PTH using different assays (2. gen., Atellica, Siemens Healthineers and 3. gen, Cobas 8000, Roche Diagnostics). Results were reported as the mean relative difference (RD): (2. gen PTH-3. gen PTH)/3. gen PTH. Overall, the 2. gen assay provided higher values of PTH as reflected by the median PTH (2. gen: 26.4 pmol/L; 3. gen 14.5 pmol/L) and the mean RD (82%). When stratified by CKD subgroup, the difference between the assays increased with decreasing kidney function (CKD1-3 (<i>n</i> = 19): mean RD 41%; CKD4 (<i>n</i> = 25): 66%; CKD5 (<i>n</i> = 93): 81%; dialysis (<i>n</i> = 186): 90%). PTH measured with 2. and 3. gen assays differed markedly among CKD patients, and the assay difference was dependent on the degree of kidney failure. Results inform clinical guidance on the monitoring and management based on PTH among patients with CKD.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-8"},"PeriodicalIF":1.3,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144192161","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}
引用次数: 0
Validation of cobas® pulse point-of-care testing device for blood glucose monitoring. 用于血糖监测的cobas®脉搏即时检测设备的验证。
IF 1.3 4区 医学
Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2025-05-30 DOI: 10.1080/00365513.2025.2512382
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":"https://doi.org/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":"1-6"},"PeriodicalIF":1.3,"publicationDate":"2025-05-30","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}
引用次数: 0
Toxicological findings in Swedish cases of suspected drug-facilitated sexual assault (DFSA). 瑞典疑似毒品性侵犯案件的毒理学调查结果(DFSA)。
IF 1.3 4区 医学
Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2025-05-27 DOI: 10.1080/00365513.2025.2511305
Anna Möller, Isabelle Högbeck, Markus R Meyer, Daniela Wissenbach, Olof Beck, Anders Helander
{"title":"Toxicological findings in Swedish cases of suspected drug-facilitated sexual assault (DFSA).","authors":"Anna Möller, Isabelle Högbeck, Markus R Meyer, Daniela Wissenbach, Olof Beck, Anders Helander","doi":"10.1080/00365513.2025.2511305","DOIUrl":"https://doi.org/10.1080/00365513.2025.2511305","url":null,"abstract":"<p><p>Suspicion of proactive drug-facilitated sexual assault (DFSA) where the perpetrator covertly administers psychoactive drugs to the victim has been reported in considerable proportions from sexual assault centers and forensic units all over the world. Substances implicated in DFSA are often referred to as 'date-rape drugs'. This study investigated toxicological findings in cases of suspected proactive DFSA presenting to the Emergency Clinic for Rape Victims in Stockholm, Sweden within 48 h of the assault. Urine samples for toxicological analysis were collected on the first visit to the clinic. During follow-up 10-14 days later, participants provided a control urine sample and reported voluntary intake of alcohol, recreational and prescription drugs in connection with the assault according to a standardized protocol. Urine samples were subjected to extensive toxicological LC-MS/MS analysis that covered common recreational drugs and >100 DFSA-associated substances. 31 out of the 55 women who presented to the clinic after a suspected proactive DFSA during the study period returned for follow-up and completed the study. Almost all women (97%) reported voluntary alcohol intake in connection with the assault, which exceeded 70 g ethanol in half of the cases. Unexpected toxicological findings were made only in five cases (16%), with the most common substance being cocaine. No typical date-rape drug was identified in cases where involuntary intake was considered likely. In conclusion, the greatest risk factor exploited by perpetrators of DFSA appears to be voluntary alcohol intoxication, while toxicological evidence of illicit drugging is rare.</p>","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-6"},"PeriodicalIF":1.3,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144161807","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}
引用次数: 0
Increased serum anti-angiogenic factor levels in insulin-resistant obese children and adolescents with or without liver steatosis (NAFL). 伴有或不伴有肝脂肪变性(NAFL)的胰岛素抵抗型肥胖儿童和青少年血清抗血管生成因子水平升高。
IF 1.3 4区 医学
Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2025-05-14 DOI: 10.1080/00365513.2025.2502947
Samed Emre Darılmaz, Melike Zeynep Tugrul Aksakal, Gozde Ceylan, Canan Kucukgergin, Aylin Yetim Sahin, Seldag Bekpinar
{"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":"https://doi.org/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":"1-6"},"PeriodicalIF":1.3,"publicationDate":"2025-05-14","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}
引用次数: 0
The frequency of JAK2 V617F mutation and its association with low EPO levels in polycythemia vera patients. 真性红细胞增多症患者JAK2 V617F突变频率及其与低EPO水平的关系
IF 1.3 4区 医学
Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2025-05-08 DOI: 10.1080/00365513.2025.2502945
Recai Aci, Adem Keskin, Özlem Sezer, Taner Karakaya, Samet Semiz, Halit Kızılet
{"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":"https://doi.org/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":"1-4"},"PeriodicalIF":1.3,"publicationDate":"2025-05-08","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}
引用次数: 0
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