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Liquid biopsy: a step forward in laboratory medicine. 液体活检：检验医学的一个进步。
IF 1.1 Q4 MEDICAL LABORATORY TECHNOLOGY
Advances in laboratory medicine
Pub Date : 2025-09-08 eCollection Date: 2025-09-01 DOI: 10.1515/almed-2025-0116
Angel Díaz-Lagares, Wladimiro Jiménez
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引用次数: 0
Farmacogenética y medicina de laboratorio: del gen individual a los estudios genéticos integrales. 药物遗传学和实验室医学：从单个基因到整体基因研究。
IF 1.1 Q4 MEDICAL LABORATORY TECHNOLOGY
Advances in laboratory medicine
Pub Date : 2025-09-01 eCollection Date: 2025-12-01 DOI: 10.1515/almed-2025-0109
Mercè Brunet Serra, María Isidoro García
{"title":"Farmacogenética y medicina de laboratorio: del gen individual a los estudios genéticos integrales.","authors":"Mercè Brunet Serra, María Isidoro García","doi":"10.1515/almed-2025-0109","DOIUrl":"10.1515/almed-2025-0109","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"381-384"},"PeriodicalIF":1.1,"publicationDate":"2025-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744364/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859470","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
Los cambios inmunofenotípicos en tiempo real en la leucemia linfoblástica pediátrica de tipo B tienen implicaciones para la detección de la enfermedad mínima residual. 儿科B型淋巴母细胞白血病的实时免疫表型变化对最小残留疾病的检测具有意义。
IF 1.1 Q4 MEDICAL LABORATORY TECHNOLOGY
Advances in laboratory medicine
Pub Date : 2025-08-29 eCollection Date: 2025-09-01 DOI: 10.1515/almed-2025-0104
Omer Javed, Neelum Mansoor, Naeem Jabbar, Hamza Khan, Talha Israr, Sidra Maqsood, Saba Jamal, Fatima Meraj
{"title":"Los cambios inmunofenotípicos en tiempo real en la leucemia linfoblástica pediátrica de tipo B tienen implicaciones para la detección de la enfermedad mínima residual.","authors":"Omer Javed, Neelum Mansoor, Naeem Jabbar, Hamza Khan, Talha Israr, Sidra Maqsood, Saba Jamal, Fatima Meraj","doi":"10.1515/almed-2025-0104","DOIUrl":"10.1515/almed-2025-0104","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"365-372"},"PeriodicalIF":1.1,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115024","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 integración de la prueba de ctDNA en el análisis de EGFR en el carcinoma pulmonar no microcítico: estrategias para el laboratorio clínico. 将ctDNA测试整合到非微细胞肺癌的EGFR分析中：临床实验室策略。
IF 1.1 Q4 MEDICAL LABORATORY TECHNOLOGY
Advances in laboratory medicine
Pub Date : 2025-08-28 eCollection Date: 2025-09-01 DOI: 10.1515/almed-2025-0092
Esther Fernández-Galán, Joan Anton Puig-Butillé
{"title":"La integración de la prueba de ctDNA en el análisis de <i>EGFR</i> en el carcinoma pulmonar no microcítico: estrategias para el laboratorio clínico.","authors":"Esther Fernández-Galán, Joan Anton Puig-Butillé","doi":"10.1515/almed-2025-0092","DOIUrl":"10.1515/almed-2025-0092","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"245-258"},"PeriodicalIF":1.1,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446920/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114943","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
Beyond mean corpuscular volume: the role of neutrophil and monocyte volume cell population data in the diagnosis of vitamin B12 deficiency in anemic patients. 超越平均红细胞体积：中性粒细胞和单核细胞体积细胞群数据在贫血患者维生素B12缺乏症诊断中的作用
IF 1.1 Q4 MEDICAL LABORATORY TECHNOLOGY
Advances in laboratory medicine
Pub Date : 2025-08-22 eCollection Date: 2025-12-01 DOI: 10.1515/almed-2025-0097
Alba Leis-Sestayo, Álvaro Piedra-Aguilera, Laura Jiménez-Añón, Jennifer Rodríguez-Domínguez, Carme García-Martín, Alicia Martínez-Iribarren, Cristian Morales-Indiano
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引用次数: 0
Biopsia líquida: Un paso adelante en la medicina de laboratorio. 液体活检：实验室医学向前迈出的一步。
IF 1.1 Q4 MEDICAL LABORATORY TECHNOLOGY
Advances in laboratory medicine
Pub Date : 2025-08-20 eCollection Date: 2025-09-01 DOI: 10.1515/almed-2025-0117
Angel Díaz-Lagares, Wladimiro Jiménez
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引用次数: 0
ADN tumoral circulante en pacientes con cáncer: perspectivas desde el laboratorio clínico. 癌症患者肿瘤DNA循环：临床实验室的展望。
IF 1.1 Q4 MEDICAL LABORATORY TECHNOLOGY
Advances in laboratory medicine
Pub Date : 2025-08-19 eCollection Date: 2025-09-01 DOI: 10.1515/almed-2025-0093
Francisco J Illana, Esther Fernández-Galán, José Luis Muñoz-Bravo, Laura Valiña Amado, Carme García Martín, Carolina González-Fernández, Sílvia Miró-Cañís, Jaume Trapé, Antonio Martínez-Peinado, Xavier Filella, Alvaro González, Antonio Barco Sánchez, Angel Díaz-Lagares
{"title":"ADN tumoral circulante en pacientes con cáncer: perspectivas desde el laboratorio clínico.","authors":"Francisco J Illana, Esther Fernández-Galán, José Luis Muñoz-Bravo, Laura Valiña Amado, Carme García Martín, Carolina González-Fernández, Sílvia Miró-Cañís, Jaume Trapé, Antonio Martínez-Peinado, Xavier Filella, Alvaro González, Antonio Barco Sánchez, Angel Díaz-Lagares","doi":"10.1515/almed-2025-0093","DOIUrl":"10.1515/almed-2025-0093","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"277-297"},"PeriodicalIF":1.1,"publicationDate":"2025-08-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145115328","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 del análisis de la relación albúmina-creatinina mediante tira reactiva como método de cribado para la determinación de albúmina en orina en atención primaria. 在初级保健中，用反应条作为测定尿液中白蛋白的筛选方法评价白蛋白-肌酸关系分析。
IF 1.1 Q4 MEDICAL LABORATORY TECHNOLOGY
Advances in laboratory medicine
Pub Date : 2025-08-15 eCollection Date: 2025-09-01 DOI: 10.1515/almed-2025-0102
Paula Liébanas García, Silvia Montolio Breva, Teresa Sans Mateu
{"title":"Evaluación del análisis de la relación albúmina-creatinina mediante tira reactiva como método de cribado para la determinación de albúmina en orina en atención primaria.","authors":"Paula Liébanas García, Silvia Montolio Breva, Teresa Sans Mateu","doi":"10.1515/almed-2025-0102","DOIUrl":"10.1515/almed-2025-0102","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 3","pages":"351-357"},"PeriodicalIF":1.1,"publicationDate":"2025-08-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446917/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145114524","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
BRAF V600E liquid biopsy-based detection in precision oncology. BRAF V600E液体活检在精准肿瘤学检测中的应用。
IF 1.1 Q4 MEDICAL LABORATORY TECHNOLOGY
Advances in laboratory medicine
Pub Date : 2025-08-15 eCollection Date: 2025-09-01 DOI: 10.1515/almed-2025-0110
Gabriela R Mendeluk, Verónica A Alonso

Introduction: The BRAF V600E mutation is one of the most relevant genetic mutations in precision oncology. This variation is commonly found in several types of tumors, including melanoma, colorectal cancer, and thyroid cancer, to name a few. Liquid biopsy has emerged as a minimally-invasive screening option for this mutation.

Content: This review examines the molecular biology of the BRAF V600E mutation, its role in tumor progression, and its utility in the diagnosis, prognosis and treatment of specific types of tumors. In addition, the focus is also placed on liquid biopsy-based screening options and their advantages over solid biopsy.

Summary: Detection of this mutation through liquid biopsy offers a less invasive alternative to conventional tissue biopsies, with potential utility in guiding treatment adjustments and monitoring therapeutic response.

Outlook: The use of liquid biopsy for the detection of BRAF V600E is expected to widespread in clinical practice, leading to the optimization of disease monitoring and personalized treatments for cancer patients.

BRAF V600E突变是精准肿瘤学中最相关的基因突变之一。这种变异通常存在于几种类型的肿瘤中，包括黑色素瘤、结直肠癌和甲状腺癌等。液体活检已经成为这种突变的一种微创筛查选择。内容：本文综述了BRAF V600E突变的分子生物学、在肿瘤进展中的作用以及在特定类型肿瘤的诊断、预后和治疗中的应用。此外，重点还放在基于液体活检的筛查选择及其相对于固体活检的优势上。摘要：通过液体活检检测这种突变提供了一种比传统组织活检侵入性更小的选择，在指导治疗调整和监测治疗反应方面具有潜在的效用。展望：液体活检检测BRAF V600E有望广泛应用于临床实践，从而优化癌症患者的疾病监测和个性化治疗。
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引用次数: 0
Genomic characterization of Pseudomonas aeruginosa adaptation mechanisms in bronchiectasis patients. 支气管扩张患者铜绿假单胞菌适应机制的基因组特征。
IF 1.1 Q4 MEDICAL LABORATORY TECHNOLOGY
Advances in laboratory medicine
Pub Date : 2025-08-15 eCollection Date: 2025-12-01 DOI: 10.1515/almed-2025-0044
Alba Muñoz Santa, Xavier Gómez-Arbonés, Ricardo Pifarré Teixidó, Mercè García-González, Alba Bellés Bellés

Objectives: Pseudomonas aeruginosa is one of the main causes of chronic bronchial infection (CBI), especially in patients with chronic underlying diseases such as cystic fibrosis (CF), chronic obstructive pulmonary disease (COPD), asthma and bronchiectasis (BQ). Compared to P. aeruginosa CBI in CF, BQ infection has historically received less attention. The aim of this study was to determine the antibiotic susceptibility profile of 100 isolates recovered from 100 patients with P. aeruginosa CBI BQ and to characterize some of the adaptation mechanisms in 55 isolates by whole genome sequencing (WGS).

Methods: Susceptibility testing to 10 antipseudomonal agents was done by MicroScan WalkAway broth microdilution system. WGS was performed using the Illumina DNA Prep library preparation kit. Indexed libraries were sequenced on an Illumina MiSeq benchtop sequencer (300 base pairs paired-end reads).

Results: The most common loss-of-function mutations occurred in genes encoding the MexAB-OprM efflux-pump system, the pvd cluster and the fpvA receptor, and genes involved in twitching motility such as chpA and fimV.

Conclusions: Our data indicates that P. aeruginosa adapts by accumulating loss-of-function mutations in several genes, resulting in changes to different phenotypes that may guide the development of new alternative treatment therapies.

目的：铜绿假单胞菌是慢性支气管感染（CBI）的主要原因之一，特别是在慢性基础疾病如囊性纤维化（CF）、慢性阻塞性肺疾病（COPD）、哮喘和支气管扩张（BQ）患者中。与CF中的铜绿假单胞菌CBI相比，BQ感染历来受到的关注较少。本研究的目的是通过全基因组测序（WGS）对100例铜绿假单胞菌（P. aeruginosa CBI BQ）患者中分离的100株菌株进行抗生素敏感性分析，并对55株菌株的部分适应机制进行表征。方法：采用MicroScan WalkAway肉汤微量稀释系统对10种抗假单胞菌药物进行药敏试验。WGS采用Illumina DNA Prep文库制备试剂盒。索引文库在Illumina MiSeq台式测序仪上测序（300个碱基对末端配对）。结果：最常见的功能丧失突变发生在编码MexAB-OprM外排泵系统、pvd簇和fpvA受体的基因，以及涉及抽搐运动的基因，如chpA和fimV。结论：我们的数据表明，铜绿假单胞菌通过积累几个基因的功能缺失突变来适应，从而导致不同表型的变化，这可能指导新的替代治疗方法的发展。
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引用次数: 0
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