Advances in laboratory medicine最新文献

{"title":"A <i>de novo</i> variant of the <i>COL3A1</i> gene: causality of vascular Ehlers-Danlos syndrome.","authors":"Estrella Gutiérrez Romero, Nuria Padilla Apuntate, Silvia Izquierdo Álvarez","doi":"10.1515/almed-2025-0172","DOIUrl":"10.1515/almed-2025-0172","url":null,"abstract":"<p><strong>Objectives: </strong>To establish diagnosis of vascular Ehlers-Danlos syndrome (VEDS) through genetic testing. This syndrome is characterized by muscle and arterial ruptures and a tendency to easy brusing, thin skin with visible veins and acrogeric facial features that may be caused by pathogenic variants (PVs) in heterozygosis in the <i>COL3A1</i> gene.</p><p><strong>Case presentation: </strong>We present the case of a man who suffered a cerebrovascular accident. Following investigations, a <i>de novo</i> probably-pathogenic variant was identified in the <i>COL3A1</i> gene, which directed initial suspicion from Marfan syndrome to a final diagnosis of VEDS.</p><p><strong>Conclusions: </strong>The variant detected in the <i>COL3A1</i> gene may support causality in the clinical context of this patient and contribute to improving therapeutic management in similar cases.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"500-503"},"PeriodicalIF":1.1,"publicationDate":"2025-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859511","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}

{"title":"High sensitive troponin T elevation in an oncology patient on treatment with Pembrolizumab.","authors":"Alberto Alcalde Morales, Miguel Reyes Milla, Rufino Mondéjar García, Antonio León Justel","doi":"10.1515/almed-2025-0148","DOIUrl":"10.1515/almed-2025-0148","url":null,"abstract":"<p><strong>Objectives: </strong>Troponins are a complex of three proteins that play a key role in the contraction of striated muscles. Currently, cardiac troponins T (cTnT) and I (cTnI) are the best biomarkers for acute myocardial infarction (AMI) diagnostic.</p><p><strong>Case presentation: </strong>Immune-mediated toxicity due to Pembrolizumab was suspected in a 70-year-old male patient with gastric adenocarcinoma. To confirm this, creatine kinase (CK) and high sensitivity troponin T (hs-cTnT) analysis was carried out, giving values above the reference range. While CK normalized over time, hs-cTnT levels remained high. Before opting to perform an endomyocardial biopsy, high-sensitive troponin I (hs-cTnI) was measured, yielding a normal value. Due to discrepancies in troponin levels, a standard protocol was followed to confirm the presence of analytical interferences, that was negative.</p><p><strong>Conclusions: </strong>The discrepancy observed between both troponin levels, and the absence of analytical interference, led us to exclude cardiac damage in our patient. So, the most probable cause of elevated cTnT was muscle involvement. This case highlights the importance of confirming troponin results using an alternative assay to rule out limited specificity and emphasizes the need for accessible tools to identify potential analytical interferences.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 2","pages":"156-159"},"PeriodicalIF":1.1,"publicationDate":"2025-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13169824/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944009","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}

{"title":"Comparative analysis of platelet counts using Beckman Coulter DxH-900, Mindray BC-6800 Plus, CellaVision DM9600 and the flow cytometry reference method: addressing the challenge of giant platelets.","authors":"Álvaro Piedra-Aguilera, Alba Leis-Sestayo, Alicia Martínez-Iribarren, Laura Jiménez-Añón, Jennifer Rodríguez-Domínguez, Ghali Ech Cherif-El Kettani, Xavier Tejedor-Ganduxé, Rebeca Jurado-Tapiador, Cristian Morales-Indiano","doi":"10.1515/almed-2025-0133","DOIUrl":"10.1515/almed-2025-0133","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate the analytical performance of platelet counts obtained by impedance- and optical-based methods on the DxH-900 and BC-6800 Plus analyzers, and by digital morphology using the CellaVision DM9600, in comparison with the international reference method (IRM), in samples with thrombocytopenia and both normal-sized and giant platelets.</p><p><strong>Methods: </strong>Platelet counts were analyzed in peripheral blood samples from patients with thrombocytopenia and normal platelet counts, including cases with normal-sized and giant platelets. Each sample was tested using two automated analyzers: the DxH-900 (impedance) and the BC-6800 Plus (impedance and optical). Results were compared with the IRM based on flow cytometry, performed on the DxFlex analyzer. Precision was assessed. The methods were compared by Passing-Bablok regression and bias calculation. Additionally, platelet morphology was reviewed digitally using CellaVision DM9600.</p><p><strong>Results: </strong>All methods demonstrated high precision and strong correlation with IRM in samples with normal-sized platelets. However, significant discrepancies were observed in the presence of giant platelets. Impedance methods showed higher imprecision (CV>10 %) and underestimated platelet counts with a negative bias exceeding -25 %. Conversely, the optical method showed better correlation (r=0.9888) and precision (CV=1.6 %), although it overestimated counts with a positive bias of 19.4 %. Digital morphology also demonstrated strong agreement with IRM.</p><p><strong>Conclusions: </strong>These findings highlight the analytical limitations of routine technologies in challenging samples and emphasize the importance of method selection for accurate platelet reporting. A correction factor for optical counts and the integration of digital morphology could enhance diagnostic reliability in cases involving giant platelets.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 1","pages":"59-63"},"PeriodicalIF":1.1,"publicationDate":"2025-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12994698/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147482436","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}

{"title":"Evaluación del diseño y costo-efectividad de un modelo de pruebas en el lugar de atención para mejorar la capacidad de resolución de las urgencias hospitalarias.","authors":"Marta Jimenez-Barragan, Antonio Leon-Justel, Catalina Sanchez-Mora","doi":"10.1515/almed-2025-0171","DOIUrl":"10.1515/almed-2025-0171","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"467-476"},"PeriodicalIF":1.1,"publicationDate":"2025-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859487","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}

{"title":"Más allá del volumen corpuscular medio: el papel del volumen de los neutrófilos y de los monocitos en el diagnóstico del déficit de B12 en pacientes con anemia.","authors":"Alba Leis-Sestayo, Álvaro Piedra-Aguilera, Laura Jiménez-Añón, Jennifer Rodríguez-Domínguez, Carme García-Martín, Alicia Martínez-Iribarren, Cristian Morales-Indiano","doi":"10.1515/almed-2025-0163","DOIUrl":"10.1515/almed-2025-0163","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"511-513"},"PeriodicalIF":1.1,"publicationDate":"2025-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859505","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}

{"title":"Validación del reactivo fCAL turbo Buhlmann para la determinación de calprotectina en suero.","authors":"Helena Čičak, Željka Šarčević, Ana Sruk, Frane Bukvić, Daria Pašalić, Lora Dukić, Ana-Maria Šimundić","doi":"10.1515/almed-2025-0174","DOIUrl":"10.1515/almed-2025-0174","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"434-441"},"PeriodicalIF":1.1,"publicationDate":"2025-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744376/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859584","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}

{"title":"Estudio comparativo de cuatro analizadores diferentes para la evaluación prenatal del riesgo de trisomía 21.","authors":"Natalia García-Simón, Cristina Martínez-Payo, Francisco A Bernabeu-Andreu, Encarnación Donoso-Navarro","doi":"10.1515/almed-2025-0149","DOIUrl":"10.1515/almed-2025-0149","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"419-426"},"PeriodicalIF":1.1,"publicationDate":"2025-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744382/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859450","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}

{"title":"The role of the clinical laboratory in the study of mesalazine-induced nephrolithiasis and crystalluria.","authors":"Ana Isabel Balbuena, Noelia Poveda, Araceli López, María José Ferri","doi":"10.1515/almed-2025-0164","DOIUrl":"10.1515/almed-2025-0164","url":null,"abstract":"<p><strong>Objectives: </strong>The development of urinary lithiasis is a relatively frequent complication in patients with inflammatory bowel disease (IBD). A multiplicity of factors - including medication - may induce the formation of renal stones and cause complications of variable severity.</p><p><strong>Case presentation: </strong>We report a six-case series of patients with IBD treated with mesalazine who developed renoureteral colic. Spontaneous stone expulsion occurred in three patients, with infrared spectroscopy (IRS) confirming a composition of 100 % mesalazine. In the other three cases, the presence of crystalluria was confirmed in urine sediment during the renal colic. In two of these patients, IRS analysis of dried urine sediment confirmed a mesalazine composition.</p><p><strong>Conclusions: </strong>The scarce literature available on the association between the use of mesalazine and increased risk of lithiasis fails to provide frequency data. Only a previous case on mesalazine crystalluria had been reported in the literature so far, probably due to the difficulty detecting this complication. This case series emphasizes the role of urine sediment analysis in identifying crystalluria and preventing major complications during the follow-up of patients receiving mesalazine therapy.</p>","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"492-495"},"PeriodicalIF":1.1,"publicationDate":"2025-11-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859552","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}

{"title":"Utilidad del PSA en vesículas extracelulares como biomarcador de seguimiento en el cáncer de próstata.","authors":"Amaia Sandúa, José L Pérez-Gracia, Estibaliz Alegre, Álvaro González","doi":"10.1515/almed-2025-0159","DOIUrl":"10.1515/almed-2025-0159","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"6 4","pages":"450-457"},"PeriodicalIF":1.1,"publicationDate":"2025-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12744381/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145859564","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}

{"title":"Evaluation of freely available artificial intelligence (AI) tools for diagnostic support in a complex clinical and laboratory presentations: a pilot study.","authors":"Laura Pighi, Davide Negrini, Giuseppe Lippi","doi":"10.1515/almed-2025-0157","DOIUrl":"10.1515/almed-2025-0157","url":null,"abstract":"","PeriodicalId":72097,"journal":{"name":"Advances in laboratory medicine","volume":"7 1","pages":"78-79"},"PeriodicalIF":1.1,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12994700/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147482379","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}