Advances in laboratory medicine最新文献_第10页

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

引用次数: 0

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}

引用次数: 0

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}

引用次数: 0

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

Parámetros de variabilidad glucémica de la monitorización continua de glucosa como predictores de diabetes: evaluación prospectiva en una población general sin diabetes. 作为糖尿病预测指标的持续血糖监测的血糖变化参数：对一般无糖尿病人群的前瞻性评估。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-01-13 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2024-0125

Andrea Valle Rodríguez, Javier Rodríguez García, Felix Camiña Darriba, Juan B Ortolá Devesa, Santiago Rodríguez-Segade Villamarín

引用次数: 0

Estudio del metabolismo lipídico en niños aragoneses con sobrepeso/obesidad vs. niños normopeso. 阿拉贡超重/肥胖儿童与正常体重儿童的脂质代谢研究。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-01-06 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2024-0113

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

引用次数: 0

Reference intervals of hematological parameters in the Chilean adult population and the Mapuche ethnic group. 智利成人和马普切族人血液学参数的参考区间。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-01-03 eCollection Date: 2025-03-01 DOI: 10.1515/almed-2024-0080

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

{"title":"Reference intervals of hematological parameters in the Chilean adult population and the Mapuche ethnic group.","authors":"Pablo J Letelier, Carolina A Chicahual, Nicolas F Arroyo, Daniel P Monsalves, Rodrigo E Boguen, Neftalí H Guzmán","doi":"10.1515/almed-2024-0080","DOIUrl":"10.1515/almed-2024-0080","url":null,"abstract":"Objectives: Reference intervals (RI) are an essential tool to support clinical decisions. These may have intra- and inter-individual variations associated with genetic differences and environmental factors. Given that Chile is a multiethnic territory, studying these variables is even more relevant. The purpose of this study was to establish RI for various hematological parameters in the Chilean population and the Mapuche ethnic group.Methods: A sample of 356 adult individuals (aged 18-65 years), of which 146 belonged to the Mapuche ethnic group, was selected using the indirect a posteriori method from the database of the UC Temuco Clinical Laboratory. The analysis was conducted by sex and ethnicity. The Tukey fences method was employed to detect outliers, and the RIs were established through the non-parametric method recommended by the IFCC.Results: The median age for the overall sample of the general population was 35 years (female) and 36 years (male). Differences (p<0.05) were found by sex in parameters dependent on hemoglobin and platelets counts. In the analysis by ethnicity, the parameters of RBC, HGB and HCT presented significant differences (p<0.0001).Conclusions: This study shows that hematological RI vary according to sex and ethnicity, which must be considered in a multiethnic population. This understanding enhances our comprehension of the individual characteristics of each person and facilitates more accurate clinical interpretation.","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 1","pages":"59-68"},"PeriodicalIF":1.1,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11949534/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143756121","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

La reutilización de biomarcadores para otros fines: oportunidades y dificultades en el cambiante campo de la medicina de laboratorio. 生物标志物的其他用途的再利用：不断变化的实验室医学领域的机遇和挑战。

IF 1.1

Advances in laboratory medicine Pub Date : 2025-01-03 eCollection Date: 2025-06-01 DOI: 10.1515/almed-2024-0196

Damien Gruson, Nassiba Menghoun, Anne-Catherine Pouleur, Antoni Bayes Genis

引用次数: 0