Scandinavian Journal of Clinical & Laboratory Investigation最新文献

Analytical interference on measurement of immunoglobulins in monoclonal gammopathy. 单克隆抗体病中免疫球蛋白测量的分析干扰。

IF 1.3 4区医学

Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2024-11-16 DOI: 10.1080/00365513.2024.2429081

Anders Oest, Maja Boe, Marianne Christina Harbo Mosgaard, Jeanette Elgaard, Simon Lykkeboe, Paw Jensen, Henrik Gregersen, Stine Linding Andersen, Aase Handberg, Stine Krogh Venø

{"title":"Analytical interference on measurement of immunoglobulins in monoclonal gammopathy.","authors":"Anders Oest, Maja Boe, Marianne Christina Harbo Mosgaard, Jeanette Elgaard, Simon Lykkeboe, Paw Jensen, Henrik Gregersen, Stine Linding Andersen, Aase Handberg, Stine Krogh Venø","doi":"10.1080/00365513.2024.2429081","DOIUrl":"https://doi.org/10.1080/00365513.2024.2429081","url":null,"abstract":"Monoclonal gammopathy has been reported to interfere with several laboratory measurement results. We investigated potential interference in monoclonal gammopathy on immunoglobulin A (IgA), immunoglobulin G (IgG), and immunoglobulin M (IgM) concentrations using three different routine chemistry instruments: Alinity (Abbott Laboratories), Cobas 8000 (Roche Diagnostics) and Optilite (Binding Site) at the Department of Clinical Biochemistry, Aalborg University Hospital, Denmark. Blood samples collected from 216 patients with known monoclonal gammopathy were analyzed on Alinity, Cobas and Optilite. Diagnoses were ascertained from clinical records. Scatter plots with Passing-Bablok regression were used to investigate associations between concentrations of IgA, IgG and IgM measured with each of the different instruments. Furthermore, comparison of IgG analyses on Alinity, Optilite and Cobas according to monoclonal IgM concentration was explored with Bland-Altman plots. A total of 81 patients were identified with IgM type monoclonal gammopathy and 8 of these patients (10%) had analytical interference as reflected by more than 25% decrease in the level of IgG measured on Alinity as compared to Optilite and Cobas. All blood samples with interference on IgG measurement using Alinity were from patients with lymphoplasmacytic lymphoma/Waldenströms macroglobulinemia and all of them had monoclonal IgM concentrations above 10 g/L. This study identified a source of interference from IgM monoclonal gammopathy on IgG measurement performed using Alinity. The interferences caused falsely low results of IgG which is important to recognize to ensure proper patient management.","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-8"},"PeriodicalIF":1.3,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644709","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

Reference intervals for 23 common biochemical parameters during pregnancy and the first six postpartum months. 孕期和产后头 6 个月 23 项常见生化指标的参考区间。

IF 1.3 4区医学

Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2024-11-16 DOI: 10.1080/00365513.2024.2406006

Paul Kjetel Soldal Lillemoen, Kristin Holstad, Anne-Lise Bjørke-Monsen

{"title":"Reference intervals for 23 common biochemical parameters during pregnancy and the first six postpartum months.","authors":"Paul Kjetel Soldal Lillemoen, Kristin Holstad, Anne-Lise Bjørke-Monsen","doi":"10.1080/00365513.2024.2406006","DOIUrl":"https://doi.org/10.1080/00365513.2024.2406006","url":null,"abstract":"The concentration of many biochemical parameters changes significantly during pregnancy and the postpartum period, causing a need for specific reference values for biochemical parameters in these life periods. We have collected blood samples in pregnancy week 18, 28 and 36 and six weeks, four months and six months postpartum from 139 healthy women. Blood samples from 59 healthy never-pregnant women were included as controls. Serum samples were analyzed for 23 common biochemical parameters and reference intervals for pregnancy and postpartum periods were computed with the non-parametric method in accordance with recommendations from IFCC and CLSI. The dynamics of different biochemical parameters during and after pregnancy vary considerably between parameters. Some analytes like serum amylase and HDL cholesterol do not differ from never-pregnant values. Of the 23 parameters, serum alkaline phosphatase, chloride, gamma-glutamyl transferase and sodium and urea which were still significantly changed at six months postpartum compared to never-pregnant women. The physiological changes related to pregnancy and lactation have profound effects on biochemical parameters, denoting the use of specific reference intervals for both pregnancy and the postpartum period.","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-12"},"PeriodicalIF":1.3,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644717","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

FlowDiff: a simple, flow cytometry-based approach for performing a leukocyte differential count. FlowDiff：一种基于流式细胞仪进行白细胞差分计数的简单方法。

IF 1.3 4区医学

Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2024-11-16 DOI: 10.1080/00365513.2024.2426140

Konstantinos Dimopoulos, Delphine Bonneau, Jens Hannibal

{"title":"FlowDiff: a simple, flow cytometry-based approach for performing a leukocyte differential count.","authors":"Konstantinos Dimopoulos, Delphine Bonneau, Jens Hannibal","doi":"10.1080/00365513.2024.2426140","DOIUrl":"https://doi.org/10.1080/00365513.2024.2426140","url":null,"abstract":"To overcome the challenges of a manual leukocyte differential count, we have developed FlowDiff, an 8-colour, single tube flow cytometry panel, and investigated whether it could potentially replace the manual differential in our laboratory. The instrument was set up in accordance with the EuroFlow settings, and the protocol comprised a stain-lyse no wash process, taking approximately 30 min of working time, without the addition of a toxic lysis reagent. We found a very good correlation for all leukocyte populations between FlowDiff and the Sysmex XN analyzer in 80 normal, non-flagged samples. In addition, FlowDiff showed a very good correlation with manual differential in 168 abnormal samples, as well as a high diagnostic accuracy. FlowDiff correctly identified all samples with acute leukemia (N = 13) and differentiated all B-lymphomas (N = 49) in samples with lymphocytosis. Moreover, FlowDiff detected an additional five samples with B-lymphocytosis without any prior hematological malignancy, which turned out to be a B-lymphoma. Our data suggest that FlowDiff, our 8-colour flow cytometry-based differential, is comparable to, and can successfully substitute the manual differential.","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-9"},"PeriodicalIF":1.3,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644715","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

Prevalence of monoclonal proteins in patients with isolated hypogammaglobulinemia on serum protein electrophoresis. 血清蛋白电泳中孤立性低丙种球蛋白血症患者的单克隆蛋白患病率。

IF 1.3 4区医学

Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2024-11-14 DOI: 10.1080/00365513.2024.2429090

Joris Godelaine, Toon Schiemsky, Ben Persy, Joris Penders

{"title":"Prevalence of monoclonal proteins in patients with isolated hypogammaglobulinemia on serum protein electrophoresis.","authors":"Joris Godelaine, Toon Schiemsky, Ben Persy, Joris Penders","doi":"10.1080/00365513.2024.2429090","DOIUrl":"https://doi.org/10.1080/00365513.2024.2429090","url":null,"abstract":"Isolated hypogammaglobulinemia (IH) is an electrophoretic pattern that can be encountered on serum protein electrophoresis (SPEP) and is defined as a decreased but morphologically normal γ-globulin fraction with normal α- and β-globulin fractions. SPEP is mainly used to detect monoclonal proteins which are usually observed as additional peaks in the electropherogram. However, they may also be more discretely present in a significant proportion of patients presenting with IH. Therefore, we aimed to evaluate i) via both retrospective and prospective analysis to what extent paraproteins as identified by immunofixation are present in patients demonstrating IH on SPEP and ii) whether other parameters may predict their presence in IH-patients. For this purpose, we first reviewed historic SPEP- and immunofixation results in our tertiary hospital and determined paraprotein prevalence in this retrospective cohort. This analysis showed immunofixation was requested in only 519/3938 (13.2%) historic IH-results with 52/519 (10%) patients demonstrating paraproteins. Next, various laboratory parameters were compared between paraprotein-positive and -negative patients and subjected to logistic regression models but regrettably, no parameter could be retained as promising predictor of paraproteins. Lastly, to confirm paraprotein prevalence seen in the historical query, we conducted a six-month prospective analysis during which immunofixation was requested more frequently in IH-cases during routine diagnostics and which showed paraproteins to be present in 20/83 (24.1%) of IH-patients. Hence, as up to 24% of patients with IH may harbour paraproteins, one should consider performing follow-up analyses (e.g. immunofixation, urine electrophoresis and/or free light chain analysis) for all IH-cases identified via SPEP.","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-5"},"PeriodicalIF":1.3,"publicationDate":"2024-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142626092","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

Challenges of preanalytical variables in erythrocyte sedimentation rate: a CUBE 30 touch evaluation. 红细胞沉降率分析前变量的挑战：CUBE 30 touch 评估。

IF 1.3 4区医学

Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2024-11-10 DOI: 10.1080/00365513.2024.2422397

Flaminia Tomassetti, Roberto Guerranti, Roberto Leoncini, Carolina Pieroni, Daniela Diamanti, Michele Cirianni, Caterina Silvestrini, Lucrezia Galasso, Martina Pelagalli, Eleonora Nicolai, Alfredo Giovannelli, Massimo Pieri, Sergio Bernardini

{"title":"Challenges of preanalytical variables in erythrocyte sedimentation rate: a CUBE 30 touch evaluation.","authors":"Flaminia Tomassetti, Roberto Guerranti, Roberto Leoncini, Carolina Pieroni, Daniela Diamanti, Michele Cirianni, Caterina Silvestrini, Lucrezia Galasso, Martina Pelagalli, Eleonora Nicolai, Alfredo Giovannelli, Massimo Pieri, Sergio Bernardini","doi":"10.1080/00365513.2024.2422397","DOIUrl":"https://doi.org/10.1080/00365513.2024.2422397","url":null,"abstract":"The erythrocyte sedimentation rate (ESR) is a widely used diagnostic test, influenced by all physiological and pathological conditions that can bias blood rheology by interfering factors. This study aimed to evaluate the performance of the CUBE 30 touch ESR analyzer in samples with preanalytical variables, as lipemia, hemolysis, and icterus or in presence of fibrinogen., Moreover we focused to define the maximum time limits to ensure a reliable ESR measure. Accuracy, intra-run and inter-run precision, and stability studies were performed. Moreover, hemolytic, jaundiced, lipemic samples and fibrinogen sensitivity were analyzed for interference study. Statistical analyses were performed. CUBE 30 touch and Westergren method comparison showed no statistical differences (Spearman Coefficient, R2=0,95). In the intra-run precision, the CV% mean obtained on samples with normal ESR level was 8,9%; with middle ESR level was 5,9% and with high ESR level the CV% was 4,3%. Inter-run precision test showed CV% of for single samples and overall samples in the range (12,3% for normal level and 4,8% for abnormal level). The samples stored at 4 °C showed good stability up to 3 h from collecting time. ESR samples showing lipemia, hemolysis or jaundice showed good correlations with the gold standard method (R2 0,901, 0,940, 0,911; p < 0,0001), however, Westergren tests were more sensitive than CUBE 30 touch to fibrinogen additions. The high comparability with the Westergren method, both in normal and interfering samples, and the good precision, support the usefulness of CUBE 30 touch in the clinical routine laboratory.","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-9"},"PeriodicalIF":1.3,"publicationDate":"2024-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142626120","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

Significance of myeloperoxidase, pentraxin-3 and soluble urokinase plasminogen activator receptor determination in patients with moderate carotid artery stenosis. 颈动脉中度狭窄患者髓过氧化物酶、五肽-3 和可溶性尿激酶纤溶酶原激活剂受体测定的意义。

IF 1.3 4区医学

Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2024-11-07 DOI: 10.1080/00365513.2024.2422404

Ana Ruzanovic, Marija Saric-Matutinovic, Neda Milinkovic, Snezana Jovicic, Andreja Dimic, David Matejevic, Ognjen Kostic, Igor Koncar, Svetlana Ignjatovic

{"title":"Significance of myeloperoxidase, pentraxin-3 and soluble urokinase plasminogen activator receptor determination in patients with moderate carotid artery stenosis.","authors":"Ana Ruzanovic, Marija Saric-Matutinovic, Neda Milinkovic, Snezana Jovicic, Andreja Dimic, David Matejevic, Ognjen Kostic, Igor Koncar, Svetlana Ignjatovic","doi":"10.1080/00365513.2024.2422404","DOIUrl":"https://doi.org/10.1080/00365513.2024.2422404","url":null,"abstract":"We investigated serum concentrations of specific inflammatory parameters in patients with significant carotid artery stenosis (CAS) of 50-99%, with an additional focus on patients with moderate stenosis (50-69%), in terms of both symptomatic status and plaque morphology, to determine whether there are certain parameters that can be associated with plaque instability before the progression of CAS to a high degree. The study included 119 CAS patients, 29 of whom had moderate stenosis, and 46 controls. Ultrasonography of the carotid arteries was performed using color flow Doppler and B-mode duplex ultrasound, and serum inflammatory parameters were measured using commercially available enzyme immunoassays. When comparing patients with 50-99% stenosis, only serum amyloid A (SAA) was higher in symptomatic patients, while in the group of patients with 50-69% stenosis, myeloperoxidase (MPO) was higher and pentraxin-3 (PTX-3) was lower in symptomatic compared to asymptomatic patients, and soluble urokinase plasminogen activator receptor (suPAR) was higher in patients with carotid plaque of unstable compared to stable morphology. Our results suggest that the importance of different inflammatory parameters in patients with moderate CAS is not the same as in CAS patients in general, and therefore their separate investigation in patients with high and moderate stenosis may be beneficial. SAA has the potential to be further considered in research to predict CAS symptom risk. There is a possibility that MPO and PTX-3 play a role in the development of CAS symptoms originating from less stenotic plaques and that suPAR is involved in the destabilisation of such plaques.","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-7"},"PeriodicalIF":1.3,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142590956","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

Reliability of albumin bromocresol green colorimetric method and clinical impact. 白蛋白溴甲酚绿比色法的可靠性及临床影响

IF 1.3 4区医学

Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2024-11-05 DOI: 10.1080/00365513.2024.2420311

Slavka Penickova, Sara Benyaich, Ibrahim Ambar, Frédéric Cotton

{"title":"Reliability of albumin bromocresol green colorimetric method and clinical impact.","authors":"Slavka Penickova, Sara Benyaich, Ibrahim Ambar, Frédéric Cotton","doi":"10.1080/00365513.2024.2420311","DOIUrl":"https://doi.org/10.1080/00365513.2024.2420311","url":null,"abstract":"Measuring plasma albumin is a common and important laboratory test. We compared the results obtained with the bromocresol green (BCG) colorimetric, immunoturbidimetric (IT), and capillary electrophoresis (CE) methods and evaluated the clinical reliability of the colorimetric test. Samples from 320 patients including 227 patients with hypoalbuminemia (albumin levels <35 g/L) were analyzed. Results were compared between different patient groups. The BCG method indicated significantly higher plasma albumin levels than the CE and IT methods, especially in patients with elevated C-reactive protein, alpha-1 globulin (a1G), and alpha-2 globulin (a2G) values. A significant proportion of patients with mild hypoalbuminemia tested using the BCG method (albBCG) and were classified as severely hypoalbuminemic (albumin <20 g/L) when switching to the CE or IT method (albCE and albIT). These patients had elevated a1G and/or a2G levels. This change of result implied an additional indication for albumin replacement therapy. The BCG method significantly overestimates albumin levels in patients with inflammation and hypoalbuminemia, which may lead to inappropriate therapeutic decisions.","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-7"},"PeriodicalIF":1.3,"publicationDate":"2024-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142584273","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

Hb Tacoma by seven HbA1c methods - one with significant interference. 用七种 HbA1c 方法检测血红蛋白塔科马--其中一种干扰很大。

IF 1.3 4区医学

Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2024-10-27 DOI: 10.1080/00365513.2024.2417383

Anni Mäenpää, Moona Kangastie, Päivikki Kangastupa

{"title":"Hb Tacoma by seven HbA1c methods - one with significant interference.","authors":"Anni Mäenpää, Moona Kangastie, Päivikki Kangastupa","doi":"10.1080/00365513.2024.2417383","DOIUrl":"https://doi.org/10.1080/00365513.2024.2417383","url":null,"abstract":"Hemoglobin Tacoma is known to potentially interfere HbA1c assays. The variant is common in Finland with prevalence of up to 2% regionally and cases are also reported in areas that have attracted Finnish immigrants, especially in Sweden and North America. Here, we investigated the effect of Hb Tacoma on seven HbA1c methods. 20 non-variant and 20 Hb Tacoma samples were measured with Tina-quant Gen. 3 (immunoassay, considered as reference) and the following point of care instruments: Afinion 2, HbA1c 501 (both utilizing boronate affinity), QuikRead go, cobas b 101, DCA Atellica, and Standard F (all immunoassays). Repeatability was also assessed by measuring both non-variant and Hb Tacoma samples five times each at two different levels. For non-variant samples, the mean relative bias with all methods was < ±4%, whereas for Hb Tacoma samples Standard F had 38% mean relative bias. In absolute bias, the difference was 17 mmol/mol on average and constant through the measured range. For other methods the mean relative bias for Hb Tacoma samples was < ±6%. The repeatability with all methods was similar for non-variant and Hb Tacoma samples and at highest 4.1% (mean CV% of two levels). The observed interference by Standard F is likely due to two-antibody assay design as Hb Tacoma has been shown to result in conformational change. This interference is clinically significant and highlight the need for better controlling and better understanding hemoglobin variants in HbA1c testing.","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-5"},"PeriodicalIF":1.3,"publicationDate":"2024-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142507042","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 retrospective study on biotinidase deficiency: analysis of the Eastern Anatolia region patient cohort. 生物素酶缺乏症回顾性研究：东安纳托利亚地区患者队列分析。

IF 1.3 4区医学

Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2024-10-25 DOI: 10.1080/00365513.2024.2420320

Oğuzhan Yaralı, Sezai Arslan, Özge Beyza Gündoğdu Öğütlü, Mustafa Can Guler, Büşra Nur Akgül

{"title":"A retrospective study on biotinidase deficiency: analysis of the Eastern Anatolia region patient cohort.","authors":"Oğuzhan Yaralı, Sezai Arslan, Özge Beyza Gündoğdu Öğütlü, Mustafa Can Guler, Büşra Nur Akgül","doi":"10.1080/00365513.2024.2420320","DOIUrl":"https://doi.org/10.1080/00365513.2024.2420320","url":null,"abstract":"ABTRACTThis study retrospectively reviews individuals diagnosed with biotinidase deficiency in Eastern Anatolia to analyze the genetic variants and their relationship with biotinidase activity levels. The research focuses on determining the percentage impact of different variants on enzyme activity. The study included 357 patients who presented to Erzurum City Hospital with symptoms of biotinidase deficiency between 2018 and 2023 and were referred to the medical genetics department. Biotinidase enzyme levels were determined using spectrophotometric and colorimetric techniques, while Sanger sequencing analyzed the four exons and intron boundaries of the BTD gene. In the analysis of 357 patients (181 boys, 176 girls), the most frequent variant was c.1270G > C | p.Asp424His. Biotinidase enzyme activity was above 30% in 97.3% of patients with a homozygous p.D424His mutation. The mutations that caused the most significant decrease in enzyme activity were c.410G > A p.Arg137His, c.38_delinsTCC p.Cys13phefs*36, and c.1535C > T p.Thr512Met. Hearing loss (4 patients) and optic atrophy (1 patient) were mainly observed in patients with the c.38_delinsTCC mutation (homozygous or heterozygous). Most patients were asymptomatic, and mild symptoms were effectively prevented with biotin treatment. This study provides a detailed analysis of genetic diversity and clinical presentation in biotinidase deficiency cases in Eastern Anatolia, demonstrating the efficacy of biotin treatment. It highlights the significant role of genetic variants in phenotypic diversity and the need for personalized treatment, calling for further genetic research to enhance understanding of variant diversity and its impact on enzyme activity.","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-7"},"PeriodicalIF":1.3,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142507041","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 eGFR_{cystatin C}/eGFR_creatinine-ratio is associated with maternal morbidity in hypertensive disorders in pregnancy and may indicate optimal timing of delivery. eGFRcystatin C/eGFRcreatinine-ratio 与妊娠期高血压疾病的孕产妇发病率有关，可指示最佳分娩时间。

IF 1.3 4区医学

Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2024-10-18 DOI: 10.1080/00365513.2024.2417379

Danielle Damm, Anders Grubb, Helena Strevens

{"title":"The eGFRcystatin C/eGFRcreatinine-ratio is associated with maternal morbidity in hypertensive disorders in pregnancy and may indicate optimal timing of delivery.","authors":"Danielle Damm, Anders Grubb, Helena Strevens","doi":"10.1080/00365513.2024.2417379","DOIUrl":"https://doi.org/10.1080/00365513.2024.2417379","url":null,"abstract":"A low eGFRcystatin C/eGFRcreatinine-ratio is characteristic of a group of serious kidney disorders called 'Selective Glomerular Hypofiltration Syndromes'. This study examines if such a low ratio can also be used to evaluate the risk for women with hypertensive disorders in pregnancy to develop severe maternal morbidity. All women discharged from the perinatal ward at the Skåne University Hospital in Lund during the period of 1-9-2016 to 31-8-2017 under one of the diagnoses within hypertensive disorders in pregnancy were considered for inclusion in the study. After delivery and discharge from the hospital, records from included patients were reviewed and all registered measures of renal function were analysed. An eGFRcystatin C/eGFRcreatinine-ratio ≤0.60 in a sample drawn not earlier than three days before delivery was considered as defining a high risk for severe maternal morbidity. A strong association (p-value: 0.035) between severe maternal morbidity and an eGFRcystatin C/eGFRcreatinine-ratio ≤0.60 was found in a subgroup of 32 women diagnosed with 'preeclampsia with severe features'. A total of 69 women were included in the study. Fifty were defined as high-risk and seventeen of them (34%) developed severe maternal morbidity. Among the nineteen women defined as low-risk only two (10.5%) developed severe maternal morbidity (p-value: 0.051). A low eGFRcystatin C/eGFRcreatinine-ratio seems promising as a predictive marker for maternal morbidity in hypertension in pregnancy. Its performance as a tool in the monitoring of progressing disease should be evaluated further in larger cohorts. Delivery before the eGFRcystatin C/eGFRcreatinine-ratio decreases to, or below, 0.60 might help avoid maternal complications.","PeriodicalId":21474,"journal":{"name":"Scandinavian Journal of Clinical & Laboratory Investigation","volume":" ","pages":"1-6"},"PeriodicalIF":1.3,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142473787","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