Advances in laboratory medicine最新文献_第4页

Fundamentals of lipoprotein(a) request and quantification in the clinical laboratory. 脂蛋白的基本原理(a)在临床实验室的要求和定量。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-03-03 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2025-0034

Teresa Arrobas Velilla, Carla Fernández Prendes, Núria Amigó Grau, Pilar Calmarza, Silvia Camós Anguila, Beatriz Candas Estébanez, María José Castro Castro, David Ceacero, Irene González Martínez, María Martín Palencia, José Puzo Foncillas, Carlos Romero Román

{"title":"Fundamentals of lipoprotein(a) request and quantification in the clinical laboratory.","authors":"Teresa Arrobas Velilla, Carla Fernández Prendes, Núria Amigó Grau, Pilar Calmarza, Silvia Camós Anguila, Beatriz Candas Estébanez, María José Castro Castro, David Ceacero, Irene González Martínez, María Martín Palencia, José Puzo Foncillas, Carlos Romero Román","doi":"10.1515/almed-2025-0034","DOIUrl":"10.1515/almed-2025-0034","url":null,"abstract":"Cardiovascular diseases keep being the leading cause of mortality in Spain. Efforts should be intensified to identify new risk factors that may contribute to increasing cardiovascular risk. Lipoprotein(a) (Lp(a)) has been associated with a higher risk for developing aortic valve stenosis, heart failure, ischemic stroke, ischemic heart disease and peripheral arterial disease. Hyperlipoproteinemia(a) is a common health problem. Between 10 and 30 % of the world population have Lp(a) values exceeding 50 mg/dL. The scientific evidence provided in the recent years confirms an independent association between Lp(a) and the risk for having an arteriosclerotic cardiovascular event. This finding, added to the emergence of new specific therapies for reducing Lp(a) has raised interest in the quantification of this lipoprotein. The objective of this paper was to perform a review of the evidence available to identify the patients who will benefit from undergoing Lp(a) testing and determine the recommended quantification methods, the desirable concentrations, and the role of Lp(a) determination in reclassifying the cardiovascular risk of patients.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 1","pages":"7-16"},"PeriodicalIF":1.1,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11949557/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143755649","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}

引用次数: 0

Aspectos fundamentales en la solicitud y determinación de la lipoproteína(a) en el laboratorio clínico. 在临床实验室中应用和测定脂蛋白(a)的基本方面。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-03-03 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2024-0090

Teresa Arrobas Velilla, Carla Fernández Prendes, Núria Amigó Grau, Pilar Calmarza, Silvia Camós Anguila, Beatriz Candas Estébanez, María José Castro Castro, David Ceacero, Irene González Martínez, María Martín Palencia, José Puzo Foncillas, Carlos Romero Román

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Implementación del ADN libre circulante para la detección de aneuploidías fetales. 利用自由循环DNA检测胎儿非整倍体。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-02-28 eCollection Date: 2025-06-01 DOI: 10.1515/almed-2024-0110

Irene Madrigal Bajo, Meritxell Jodar Bifet, Celia Badenas Orquin

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Lights and shadows of artificial intelligence in laboratory medicine. 实验室医学中人工智能的光影。

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Advances in laboratory medicine Pub Date : 2025-02-24 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2025-0024

Giuseppe Lippi, Mario Plebani

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Intervalos de referencia de parámetros hematológicos en población chilena adulta y en la etnia mapuche. 智利成年人口和马普切族血液参数的参考区间。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-02-19 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2025-0014

Pablo J Letelier, Carolina A Chicahual, Nicolás F Arroyo, Daniel P Monsalves, Rodrigo E Boguen, Neftalí H Guzmán

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Lipid metabolism in overweight/obese children vs. normal weight children in a north-eastern region of Spain. 西班牙东北部地区超重/肥胖儿童与正常体重儿童的脂质代谢

IF 1.1

Advances in laboratory medicine Pub Date : 2025-02-18 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2025-0015

José Cuenca Alcocel, Lorena Villalba-Heredia, Inés Martínez Redondo, Alba Gallego Royo, José A Casajús, José M Arbonés-Mainar, Pilar Calmarza

{"title":"Lipid metabolism in overweight/obese children vs. normal weight children in a north-eastern region of Spain.","authors":"José Cuenca Alcocel, Lorena Villalba-Heredia, Inés Martínez Redondo, Alba Gallego Royo, José A Casajús, José M Arbonés-Mainar, Pilar Calmarza","doi":"10.1515/almed-2025-0015","DOIUrl":"10.1515/almed-2025-0015","url":null,"abstract":"Objectives: Obesity and overweight have increased in children and adolescents in Europe in the recent years, accounting for a major global public health problem. The objective of this study was the early detection of metabolic abnormalities in overweight/obese children (8-12 years old) that may ultimately induce impaired glucose metabolism and/or cardiovascular diseases.Methods: Lipid metabolism and metabolic control parameters were measured and monitored in a group of 61 male and female children with overweight/obesity and a group of 45 healthy, normal weight children, comparing the results obtained. Ages ranged from 8 to 12 years.Results: Higher levels of triglycerides and insulin and lower levels of high-density lipoprotein (HDL) cholesterol and apolipoprotein A1 were observed in overweight/obese children, as compared to normal weight children. Overweight/obese children exhibited higher apolipoprotein B/apolipoprotein A1 ratio, triglyceride-glucose ratio and HOMA index and a lower low-density lipoprotein (LDL) cholesterol/apolipoprotein B ratio.Conclusions: Obesity at an early age (8-12 years) negatively affects lipid parameters. Hence, overweight/obese children presented a more atherogenic lipid profile, manifested as higher concentrations of remnant particles and small dense LDL particles, higher insulin resistance and a higher risk for developing diabetes mellitus type 2 and cardiovascular disease, as compared to normal weight children.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 1","pages":"79-87"},"PeriodicalIF":1.1,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11949562/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756114","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}

引用次数: 0

Evaluación de siete programas bioinformáticos para el análisis terciario de datos genómicos generados a partir de la secuenciación del exoma completo en un grupo piloto de pacientes. 评价7个生物信息学程序，用于对一组试点患者的全外泌体测序产生的基因组数据进行三级分析。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-02-10 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2024-0101

Nerea Bastida-Lertxundi, Itxaso Martí-Carrera, Borja Laña-Ruíz, Otilia Martínez-Múgica Barbosa, Raquel Muguerza-Iraola, Raquel Sáez-Villaverde, Julien S Crettaz

引用次数: 0

Detection of Chlamydia trachomatis ompA DNA in urine by loop-mediated isothermal amplification (LAMP) assay. 环介导等温扩增（LAMP）法检测尿中沙眼衣原体DNA。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-02-05 eCollection Date: 2025-09-01 DOI: 10.1515/almed-2024-0117

Hemali Attanayake, Charitha Goonasekara, Nalaka Abeygunasekera, Jayanthi Elvitigala, Kamani Mangalika Gunasekera

{"title":"Detection of Chlamydia trachomatis ompA DNA in urine by loop-mediated isothermal amplification (LAMP) assay.","authors":"Hemali Attanayake, Charitha Goonasekara, Nalaka Abeygunasekera, Jayanthi Elvitigala, Kamani Mangalika Gunasekera","doi":"10.1515/almed-2024-0117","DOIUrl":"10.1515/almed-2024-0117","url":null,"abstract":"Objectives: Efficient real-time PCR kits are commercially available for the detection of Chlamydia trachomatis (CT) genetic material, but at a price. As a result, cost-effective, sensitive and specific CT diagnostic tests are essential for resource limited countries. This study aims to describe the optimization of a loop mediated isothermal amplification (LAMP) assay for the detection of CT ompA DNA in urine.Methods: Cost-saving modifications included using Bsm polymerase and a nucleic acid gel stain. Crude DNA extraction (method-1) involved centrifuging urine at 14,000 g for 30 min, heating the deposit at 95 °C for 5 min, and centrifuging again at 17,000 g for 1 min. To boost sensitivity, urinary inhibitors were diluted with phosphate-buffered saline washes and a larger urine volume was used (method-2). The LAMP-SYBR GOLD assay was incubated at 56 °C for 60 min, with nucleic acid gel stain color changes observed under UV light. Urine from 326 sexually transmitted diseases clinic attendees was tested with both LAMP-SYBR GOLD and real-time PCR, comparing sensitivity and specificity.Results: Analytical sensitivity of the LAMP-SYBR GOLD assay was 0.8 copies per reaction volume. Compared to real-time PCR, LAMP-SYBR GOLD assay had sensitivity, specificity, positive predictive and negative predictive values of 71.4 , 99.7, 96.2, 96.7 % respectively. Five of the seven false negative results obtained with method-1 were re-tested using method-2, providing in all the cases the expected positive results.Conclusions: The LAMP-SYBR GOLD assay showed a sensitivity of 71 % and a high specificity for detecting CT in urine with extraction method-1. The use of method-2 could increase this sensitivity, likely due to the removal of urine inhibitors.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"314-319"},"PeriodicalIF":1.1,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446907/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114459","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}

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Evaluating the research parameters available on the Sysmex^® XN-series hematology analyzers as markers of dysplasia in peripheral blood. 评估Sysmex®xn系列血液学分析仪上可用的研究参数，作为外周血异常增生的标志物。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-02-04 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2025-0003

Vicente Aguadero, María López, Míriam Ruíz, Diana Regidor, Gemma Celma

{"title":"Evaluating the research parameters available on the Sysmex® XN-series hematology analyzers as markers of dysplasia in peripheral blood.","authors":"Vicente Aguadero, María López, Míriam Ruíz, Diana Regidor, Gemma Celma","doi":"10.1515/almed-2025-0003","DOIUrl":"10.1515/almed-2025-0003","url":null,"abstract":"Objectives: Myelodysplastic syndromes (MDS) are clonal hematopoietic disorders characterized by peripheral blood cytopenias, cellular dysplasia and risk for progression into acute leukemia. Recent studies reveal that some research parameters available on Sysmex XN-1000® hematology analyzers, including immature platelet fraction (IPF), Neutrophil Granularity Index (Neu-GI), or platelet distribution width (PDW), show a relationship with dysplasia in peripheral blood. The objective of this study was to examine the association between classic and research blood count parameters and the presence of dysplasia. The secondary objective was to develop a multivariate model that allows the prediction of dysplasia with high probability.Methods: Seventy-five patients older than 60 years with anemia, leukopenia or thrombocytopenia, without vitamin B12 and folate deficiency or hematological diseases underwent testing with the Sysmex XN-1000 analyzer.Results: Dysplasia was confirmed in 32 % of patients, with significant differences in Neu-GI, PDW and IPF count between the groups of patients with and without dysplasia. Neu-GI was the parameter with the highest predictive value (AUC=0.98), with such value not increasing significantly after the addition of PDW or PIF. A Neu-GI value≤146ch predicts dysplasia with a positive predictive value=90 %.Conclusions: Neu-GI is the parameter most strongly associated with dysplasia. A Neu-GI value≤146ch indicates a high probability of dysplasia and supports indication for a blood smear review. Additionally, values>152ch indicate a low probability of dysplasia.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 1","pages":"98-102"},"PeriodicalIF":1.1,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11949553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756216","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}

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Diagnosis of hemogobinopathies in the clinical laboratory: an occult Hofu hemoglobin on HPLC. 临床实验室血液病的诊断：HPLC上隐匿的Hofu血红蛋白。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-01-23 eCollection Date: 2025-06-01 DOI: 10.1515/almed-2024-0175

Maitane Echeverría Urroz, Ana Isabel López Delgado, Raquel Oliveros Conejero, David Álvarez Nistal

{"title":"Diagnosis of hemogobinopathies in the clinical laboratory: an occult Hofu hemoglobin on HPLC.","authors":"Maitane Echeverría Urroz, Ana Isabel López Delgado, Raquel Oliveros Conejero, David Álvarez Nistal","doi":"10.1515/almed-2024-0175","DOIUrl":"10.1515/almed-2024-0175","url":null,"abstract":"Objectives: Hemoglobinopathies are disorders affecting the structure, function and/or production of hemoglobin. These conditions are caused by mutations in the genes encoding globin synthesis. The highly variable clinical manifestations of hemoglobin disorders range from asymptomatic forms to severe anemia. Laboratory tests are crucial for diagnosis.Case presentation: We report the case of a patient who presented with asthenia. Since the patient had a family history of hemoglobonipathies, screening for erythropathies was performed. High-resolution liquid chromatography (HPLC) showed a normal distribution of hemoglobin levels. In contrast, capillary zone electrophoresis at alkaline pH demonstrated an unidentified rapid migration peak. Genetic testing revealed a mutation in the HBB gene causing Hofu hemoglobin disease.Conclusions: The hemoglobin variant Hofu is slightly unstable. While heterozygous carriers most frequently remain asymptomatic, they may develop anemia in the presence of other concomitant disorders. Distinctively, the retention time of Hb Hofu on HPLC is very close to that of HbA (0) and they often elute together. Therefore, Hb Hofu may remain masked, thereby leading to the misinterpretation of test results.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 2","pages":"213-216"},"PeriodicalIF":1.1,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12107408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175953","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}

引用次数: 0